Samhd1 MGI Mouse Gene Detail - MGI:1927468 - SAM domain and HD domain, 1

Symbol

Samhd1
Name

SAM domain and HD domain, 1
Synonyms

E330031J07Rik

Feature Type

protein coding gene
IDs

MGI:1927468
NCBI Gene: 56045
Gene Overview

MyGene.info: SAMHD1
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr2:157097533-157135265 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 78.00 cM, cytoband H2
Mapping Data

3 experiments

SNPs within 2kb

403 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1927468	protein coding gene	Chr2:157097529-157135277 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026776	protein coding gene	Chr2:162073745-162114687 (-)
A/J	MGP_AJ_G0026742	protein coding gene	Chr2:155596681-155634652 (-)
AKR/J	MGP_AKRJ_G0026713	protein coding gene	Chr2:160172607-160211590 (-)
BALB/cJ	MGP_BALBcJ_G0026751	protein coding gene	Chr2:155881980-155920341 (-)
C3H/HeJ	MGP_C3HHeJ_G0026493	protein coding gene	Chr2:160472585-160511834 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027200	protein coding gene	Chr2:166844384-166906004 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024570	protein coding gene	Chr2:149057324-149096766 (-)
CAST/EiJ	MGP_CASTEiJ_G0025955	protein coding gene	Chr2:160826831-160864122 (-)
CBA/J	MGP_CBAJ_G0026470	protein coding gene	Chr2:172896360-172939363 (-)
DBA/2J	MGP_DBA2J_G0026608	protein coding gene	Chr2:154769128-154806277 (-)
FVB/NJ	MGP_FVBNJ_G0026575	protein coding gene	Chr2:153166545-153206074 (-)
LP/J	MGP_LPJ_G0026713	protein coding gene	Chr2:162168598-162209715 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026596	protein coding gene	Chr2:176738577-176785046 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027256	protein coding gene	Chr2:159986945-160028210 (-)
PWK/PhJ	MGP_PWKPhJ_G0025689	protein coding gene	Chr2:154278000-154317633 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025492	protein coding gene	Chr2:158937931-158979813 (-)
WSB/EiJ	MGP_WSBEiJ_G0026025	protein coding gene	Chr2:160875683-160916597 (-)

Human Ortholog

SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Vertebrate Orthologs

10

Human Ortholog

SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Orthology source: HomoloGene, HGNC
Synonyms

CHBL2, DCIP, HDDC1, hSAMHD1, MOP-5, SBBI88
Links

HGNC:15925

NCBI Gene ID: 25939

neXtProt AC: NX_Q9Y3Z3

UniProt: Q9Y3Z3
Chr Location

20q11.23; chr20:36890882-36951843 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 9160
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: SAMHD1
Gene Tree

Samhd1

Diseases

2 with human SAMHD1 associations

				Human Disease	Mouse Models
				Aicardi-Goutieres syndrome IDs Aicardi-Goutieres syndrome DOID:0050629 ICD10CM:G31.8 OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 ORDO:51
				Chilblain lupus IDs Chilblain lupus DOID:0060386 MESH:C535924 OMIM:610448 OMIM:614415 ORDO:90280 UMLS_CUI:C0024145

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

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Phenotype Summary

6 phenotypes from 6 alleles in 3 genetic backgrounds
12 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Endonuclease-mediated

2
Gene trapped

2
Targeted

9
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

5 strains or lines available

Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1.

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All GO Annotations

46
GO References

7

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

21
Tissues

3
cDNA Data

19
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase samhd1

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Samhd1 interacts with 325 markers (Mir7-1, Mir9-1, Mir9-2, ...) View All

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All Sequences

76
RefSeq

6
UniProt

10
CCDS

CCDS16973.2, CCDS50783.1

Ensembl

ENSMUSG00000027639 (Evidence)
NCBI Gene

56045

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027639	Ensembl Gene Model \| MGI Sequence Detail	37733	C57BL/6J	± kb
transcript	ENSMUST00000057725	Ensembl \| MGI Sequence Detail	3926	Not Applicable
polypeptide	ENSMUSP00000059717	Ensembl \| MGI Sequence Detail	658	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000014443 deoxynucleoside triphosphate triphosphohydrolase SAMHD1

(term hierarchy)
PDB

6BRG, 6BRH, 6BRK
EC

3.1.5.-
InterPro Domains

IPR006674 HD domain

IPR003607 HD/PDEase domain

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain superfamily

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All nucleic 19

cDNA 19

Microarray probesets 10

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MGI:2442130

Summaries

All 42

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 12
Earliest

J:23604 Lafuse WP, et al., Cloning and characterization of a novel cDNA that is IFN-gamma-induced in mouse peritoneal macrophages and encodes a putative GTP-binding protein. J Leukoc Biol. 1995 Mar;57(3):477-83
Latest

J:262069 Thientosapol ES, et al., SAMHD1 enhances immunoglobulin hypermutation by promoting transversion mutation. Proc Natl Acad Sci U S A. 2018 May 8;115(19):4921-4926

TSS for Samhd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr27162	Chr2:157135200-157135215 (-)	57 bp
Tssr27161	Chr2:157135112-157135134 (-)	142 bp
Tssr27160	Chr2:157135085-157135110 (-)	167 bp
Tssr27155	Chr2:157130041-157130063 (-)	5,213 bp
Tssr27154	Chr2:157130019-157130034 (-)	5,238 bp
Tssr27153	Chr2:157129982-157129992 (-)	5,278 bp
Tssr27138	Chr2:157110591-157110645 (-)	24,647 bp
Tssr27116	Chr2:157099473-157099535 (-)	35,761 bp
Tssr27115	Chr2:157099376-157099390 (-)	35,882 bp
Tssr27114	Chr2:157099260-157099279 (-)	35,995 bp
Tssr27113	Chr2:157099186-157099208 (-)	36,068 bp
Tssr27112	Chr2:157099169-157099180 (-)	36,090 bp
Tssr27111	Chr2:157099139-157099153 (-)	36,119 bp
Tssr27110	Chr2:157098988-157099015 (-)	36,263 bp
Tssr27109	Chr2:157098934-157098947 (-)	36,324 bp
Tssr27108	Chr2:157098862-157098880 (-)	36,394 bp
Tssr27107	Chr2:157098736-157098747 (-)	36,523 bp
Tssr27106	Chr2:157098592-157098624 (-)	36,657 bp
Tssr27105	Chr2:157098503-157098521 (-)	36,753 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)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 10/08/2019 MGI 6.14