Etv6 MGI Mouse Gene Detail - MGI:109336

Symbol

Etv6
Name

ets variant 6
Synonyms

Tel, translocation-ets-leukemia

Feature Type

protein coding gene
IDs

MGI:109336
NCBI Gene: 14011
Alliance

gene page
Transcription Start Sites

24 TSS

Sequence Map

Chr6:134012663-134247121 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 64.58 cM, cytoband G2
Mapping Data

7 experiments

SNPs within 2kb

7442 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109336	protein coding gene	Chr6:134012663-134247121 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031402	protein coding gene	Chr6:138266432-138515440 (+)
A/J	MGP_AJ_G0031378	protein coding gene	Chr6:132868236-133105539 (+)
AKR/J	MGP_AKRJ_G0031305	protein coding gene	Chr6:136889136-137133108 (+)
BALB/cJ	MGP_BALBcJ_G0031384	protein coding gene	Chr6:132676288-132912294 (+)
C3H/HeJ	MGP_C3HHeJ_G0031106	protein coding gene	Chr6:136945763-137186529 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031844	protein coding gene	Chr6:142034421-142279389 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028976	protein coding gene	Chr6:132015289-132248680 (+)
CAST/EiJ	MGP_CASTEiJ_G0030475	protein coding gene	Chr6:136302145-136583970 (+)
CBA/J	MGP_CBAJ_G0031065	protein coding gene	Chr6:147329488-147593650 (+)
DBA/2J	MGP_DBA2J_G0031223	protein coding gene	Chr6:131716853-131951286 (+)
FVB/NJ	MGP_FVBNJ_G0031173	protein coding gene	Chr6:130632573-130870685 (+)
LP/J	MGP_LPJ_G0031307	protein coding gene	Chr6:138386802-138632331 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031213	protein coding gene	Chr6:151422085-151665653 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031877	protein coding gene	Chr6:136629336-136871994 (+)
PWK/PhJ	MGP_PWKPhJ_G0030200	protein coding gene	Chr6:130183126-130421774 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030024	protein coding gene	Chr6:134789878-135030727 (+)
WSB/EiJ	MGP_WSBEiJ_G0030566	protein coding gene	Chr6:137248452-137502652 (+)

Human Ortholog

ETV6, ETS variant transcription factor 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ETV6, ETS variant transcription factor 6
Synonyms

TEL, TEL/ABL, THC5
Links

HGNC:3495

NCBI Gene ID: 2120

UniProt: P41212
Chr Location

12p13.2; chr12:11649674-11895377 (+) GRCh38

MGI Vertebrate Homology

Etv6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ETV6
Gene Tree

Etv6

Diseases

7 with human ETV6 associations

				Human Disease	Mouse Models
				acute myeloid leukemia IDs acute myeloid leukemia DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467
				leukemia IDs leukemia DOID:1240 DOID:9145 ICD10CM:C95.90 ICD9CM:208 ICD9CM:208.9 MESH:D007938 NCI:C3161 UMLS_CUI:C0023418
				lymphoid leukemia IDs lymphoid leukemia DOID:1037 ICD10CM:C91 ICD9CM:204 ICD9CM:204.2 ICD9CM:204.9 MESH:D007945 NCI:C7539 UMLS_CUI:C0023448
				myelodysplastic syndrome IDs myelodysplastic syndrome DOID:0050908 MESH:D009190 OMIM:614286 UMLS_CUI:C2713368
				myeloid neoplasm IDs myeloid neoplasm DOID:0070004
				myeloproliferative neoplasm IDs myeloproliferative neoplasm DOID:2226 DOID:6002 ICD10CM:D47.1 NCI:C4345 UMLS_CUI:C1292778
				thrombocytopenia IDs thrombocytopenia DOID:1588 ICD10CM:D69.6 ICD9CM:287.5 MESH:D013921 OMIM:188000 OMIM:273900 OMIM:300367 OMIM:313900 OMIM:612004 ORDO:852 UMLS_CUI:C0040034

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

61 phenotypes from 6 alleles in 9 genetic backgrounds
10 phenotypes from multigenic genotypes
28 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

79
Endonuclease-mediated

4
Gene trapped

68
Targeted

7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

144 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. Heterozygosity for the p.R355* mutation affects hematopoietic stem and precursor cell (HSPC) function and slows blood clotting.

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All GO Annotations

42
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1041
Tissues

271
cDNA Data

149
Literature Summary

24

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase etv6

ZFIN etv6

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All Sequences

61
RefSeq

10
UniProt

8
CCDS

CCDS39677.1

Ensembl

ENSMUSG00000030199 (Evidence)
NCBI Gene

14011

			Length	Strain/Species	Flank
genomic	14011	NCBI Gene Model \| MGI Sequence Detail	234459	C57BL/6J	± kb
transcript	NM_001303102	RefSeq \| MGI Sequence Detail	5707	ZRU/MplStud
polypeptide	P97360	UniProt \| EBI \| MGI Sequence Detail	485	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000007229 transcription factor ETV6

(term hierarchy)
PDB

2LF7, 2LF8, 2MD5, 4MHG, 8E66, 8E67
InterPro Domains

IPR000418 Ets domain

IPR046328 ETS family

IPR003118 Pointed domain

IPR013761 Sterile alpha motif/pointed domain superfamily

IPR036390 Winged helix DNA-binding domain superfamily

IPR036388 Winged helix-like DNA-binding domain superfamily

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All nucleic 160

cDNA 152

Primer pair 5

Other 3

Microarray probesets 5

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MGD-MRK-38381, MGI:2141650, MGI:2141710

Summaries

All 95

Developmental Gene Expression 24

Diseases 2

Gene Ontology 11

Phenotypes 28
Earliest

J:38299 Depatie C, et al., High-resolution linkage map in the proximity of the host resistance locus Cmv1. Genomics. 1997 Jan 15;39(2):154-63
Latest

J:346895 Guo P, et al., A methylation-phosphorylation switch controls EZH2 stability and hematopoiesis. Elife. 2024 Feb 12;13

TSS for Etv6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr2034	Chr6:134011049-134011066 (+)	-1,605 bp
Tssr59213	Chr6:134011979-134012001 (+)	-673 bp
Tssr59214	Chr6:134012602-134012652 (+)	-36 bp
Tssr59215	Chr6:134012654-134012680 (+)	4 bp
Tssr59216	Chr6:134012735-134012746 (+)	78 bp
Tssr59217	Chr6:134012784-134012860 (+)	159 bp
Tssr59218	Chr6:134012916-134012936 (+)	263 bp
Tssr59219	Chr6:134012938-134012974 (+)	293 bp
Tssr59220	Chr6:134012987-134012997 (+)	329 bp
Tssr59221	Chr6:134013033-134013067 (+)	387 bp
Tssr59222	Chr6:134019228-134019237 (+)	6,570 bp
Tssr59223	Chr6:134020794-134020828 (+)	8,148 bp
Tssr59224	Chr6:134022412-134022435 (+)	9,761 bp
Tssr59225	Chr6:134022866-134022895 (+)	10,218 bp
Tssr59226	Chr6:134033120-134033129 (+)	20,462 bp
Tssr59227	Chr6:134056574-134056578 (+)	43,913 bp
Tssr59228	Chr6:134056621-134056634 (+)	43,965 bp
Tssr59229	Chr6:134083226-134083238 (+)	70,569 bp
Tssr59230	Chr6:134092189-134092220 (+)	79,542 bp
Tssr59231	Chr6:134121622-134121623 (+)	108,960 bp
Tssr59232	Chr6:134129237-134129241 (+)	116,576 bp
Tssr59233	Chr6:134167023-134167025 (+)	154,361 bp
Tssr59234	Chr6:134199898-134199903 (+)	187,238 bp
Tssr59235	Chr6:134239384-134239386 (+)	226,722 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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