Bola3 MGI Mouse Gene Detail - MGI:1925903

Symbol

Bola3
Name

bolA family member 3
Synonyms

1810056O20Rik

Feature Type

protein coding gene
IDs

MGI:1925903
NCBI Gene: 78653
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr6:83326129-83337118 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 35.94 cM
Mapping Data

1 experiment

SNPs within 2kb

440 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925903	protein coding gene	Chr6:83326129-83337118 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030930	protein coding gene	Chr6:84355031-84366020 (+)
A/J	MGP_AJ_G0030899	protein coding gene	Chr6:81143899-81154889 (+)
AKR/J	MGP_AKRJ_G0030827	protein coding gene	Chr6:83498174-83509037 (+)
BALB/cJ	MGP_BALBcJ_G0030909	protein coding gene	Chr6:81167987-81179521 (+)
C3H/HeJ	MGP_C3HHeJ_G0030801	protein coding gene	Chr6:100882423-100895520 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031369	protein coding gene	Chr6:86667088-86679663 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028555	protein coding gene	Chr6:79494158-79505629 (+)
CAST/EiJ	MGP_CASTEiJ_G0030018	protein coding gene	Chr6:83508912-83521552 (+)
CBA/J	MGP_CBAJ_G0030596	protein coding gene	Chr6:90079408-90090286 (+)
DBA/2J	MGP_DBA2J_G0030749	protein coding gene	Chr6:80460229-80471107 (+)
FVB/NJ	MGP_FVBNJ_G0030702	protein coding gene	Chr6:79667619-79679302 (+)
LP/J	MGP_LPJ_G0030828	protein coding gene	Chr6:84361136-84372736 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030738	protein coding gene	Chr6:94383294-94398702 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031393	protein coding gene	Chr6:83300022-83311104 (+)
PWK/PhJ	MGP_PWKPhJ_G0029733	protein coding gene	Chr6:79362155-79373849 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029561	protein coding gene	Chr6:82152223-82163208 (+)
WSB/EiJ	MGP_WSBEiJ_G0030099	protein coding gene	Chr6:83736992-83747694 (+)

Human Ortholog

BOLA3, bolA family member 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BOLA3, bolA family member 3
Synonyms

MMDS2
Links

HGNC:24415

NCBI Gene ID: 388962

UniProt: Q53S33
Chr Location

2p13.1; chr2:74135400-74147912 (-) GRCh38

MGI Vertebrate Homology

Bola3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BOLA3
Protein SuperFamily

BolA
Gene Tree

Bola3

Diseases

1 with human BOLA3 associations

				Human Disease	Mouse Models
				multiple mitochondrial dysfunctions syndrome 2 IDs multiple mitochondrial dysfunctions syndrome 2 DOID:0080134 OMIM:614299 ORDO:401874

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

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Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
15 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

8
Endonuclease-mediated

2
Gene trapped

3
Spontaneous

1
Targeted

2
Genomic Mutations

2 involving Bola3
Incidental Mutations

CvDC
Find Mice (IMSR)

8 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice in which the gene is deleted in fat tissue, show impaired glucose tolerance, impaired norepinephrine-induced brown adipose tissue thermogenesis, increased weight gain at thermoneutral temperature and decreased brown adipose tissue glucose uptake

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All GO Annotations

21
GO References

8

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

706
cDNA Data

47

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bola3

ZFIN bola3

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All Sequences

62
RefSeq

10
UniProt

5
CCDS

CCDS20278.1, CCDS90068.1, CCDS90069.1

Ensembl

ENSMUSG00000045160 (Evidence)
NCBI Gene

78653

			Length	Strain/Species	Flank
genomic	78653	NCBI Gene Model \| MGI Sequence Detail	10990	C57BL/6J	± kb
transcript	NM_001363773	RefSeq \| MGI Sequence Detail	2365	Not Specified
polypeptide	Q8CEI1	UniProt \| EBI \| MGI Sequence Detail	110	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004788 BolA-like protein 3

(term hierarchy)
InterPro Domains

IPR036065 BolA-like superfamily

IPR002634 BolA protein

IPR052275 Mitochondrial Fe-S cluster assembly factor
GlyGen

Q8CEI1 1 site, 1 O-linked glycan (1 site)

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All nucleic 48

cDNA 48

Microarray probesets 5

Summaries

All 42

Gene Ontology 8

Phenotypes 15
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Bola3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57350	Chr6:83326433-83326478 (+)	327 bp
Tssr57351	Chr6:83328217-83328230 (+)	2,095 bp
Tssr57352	Chr6:83328231-83328246 (+)	2,110 bp
Tssr57353	Chr6:83330200-83330231 (+)	4,087 bp
Tssr57354	Chr6:83330272-83330287 (+)	4,151 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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