Samd1 MGI Mouse Gene Detail - MGI:2142433 - sterile alpha motif domain containing 1

Symbol

Samd1
Name

sterile alpha motif domain containing 1

Feature Type

protein coding gene
IDs

MGI:2142433
NCBI Gene: 666704
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr8:84724145-84727044 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 40.24 cM
Mapping Data

1 experiment

SNPs within 2kb

78 from dbSNP Build 142
Strain Annotations

16

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2142433	protein coding gene	Chr8:84724130-84727044 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033845	protein coding gene	Chr8:84862061-84864061 (+)
A/J	MGP_AJ_G0033828	protein coding gene	Chr8:81537732-81540406 (+)
AKR/J	MGP_AKRJ_G0033754	protein coding gene	Chr8:83948019-83950780 (+)
BALB/cJ	MGP_BALBcJ_G0033821	protein coding gene	Chr8:81644415-81646340 (+)
C3H/HeJ	MGP_C3HHeJ_G0033531	protein coding gene	Chr8:84558358-84560277 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034341	protein coding gene	Chr8:88111311-88113228 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031283	protein coding gene	Chr8:75338090-75340887 (+)
CAST/EiJ	MGP_CASTEiJ_G0032861	protein coding gene	Chr8:83972703-83975350 (+)
CBA/J	MGP_CBAJ_G0033507	protein coding gene	Chr8:91231416-91235172 (+)
DBA/2J	no annotation
FVB/NJ	MGP_FVBNJ_G0033608	protein coding gene	Chr8:80098721-80100855 (+)
LP/J	MGP_LPJ_G0033752	protein coding gene	Chr8:84975166-84977091 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033650	protein coding gene	Chr8:93738297-93739509 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034358	protein coding gene	Chr8:83922762-83924763 (+)
PWK/PhJ	MGP_PWKPhJ_G0032565	protein coding gene	Chr8:80399448-80401489 (+)
SPRET/EiJ	no annotation
WSB/EiJ	MGP_WSBEiJ_G0032974	protein coding gene	Chr8:84337258-84339295 (+)

Human Ortholog

SAMD1, sterile alpha motif domain containing 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SAMD1, sterile alpha motif domain containing 1
Links

HGNC:17958

NCBI Gene ID: 90378

UniProt: Q6SPF0
Chr Location

19p13.12; chr19:14087851-14091036 (-) GRCh38

MGI Vertebrate Homology

Samd1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SAMD1
Gene Tree

Samd1

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Phenotype Summary

32 phenotypes from 1 allele in 1 genetic background
35 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

4
Chemically induced (other)

1
Gene trapped

1
Radiation induced

1
Targeted

1
Genomic Mutations

2 involving Samd1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

8 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die during fetal development with failure of blood vessels to mature, exencephaly, pallor, and degradation of organs. Mice heterozygous for the allele exhibit failure to thrive and altered steroidogenesis.

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All GO Annotations

21
GO References

6

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

770
Tissues

60
cDNA Data

49
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

28
RefSeq

2
UniProt

1
CCDS

CCDS40404.1

Ensembl

ENSMUSG00000079003 (Evidence)
NCBI Gene

666704

			Length	Strain/Species	Flank
genomic	666704	NCBI Gene Model \| MGI Sequence Detail	2900	C57BL/6J	± kb
transcript	NM_001081415	RefSeq \| MGI Sequence Detail	2256	C57BL/6
polypeptide	D3YXK1	UniProt \| EBI \| MGI Sequence Detail	519	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000014440 sterile alpha motif domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR048589 SAM domain-containing protein 1-like, WH domain

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain superfamily
GlyGen

D3YXK1 1 site

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All nucleic 50

cDNA 49

Primer pair 1

Microarray probesets 1

Summaries

All 56

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 35
Earliest

J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
Latest

J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12

TSS for Samd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr78328	Chr8:84722355-84722373 (+)	-1,781 bp
Tssr78329	Chr8:84722506-84722520 (+)	-1,632 bp
Tssr78330	Chr8:84722969-84723000 (+)	-1,160 bp
Tssr78331	Chr8:84723736-84723752 (+)	-401 bp
Tssr78332	Chr8:84723837-84723845 (+)	-304 bp
Tssr78333	Chr8:84723881-84723894 (+)	-257 bp
Tssr78334	Chr8:84723931-84723944 (+)	-207 bp
Tssr78335	Chr8:84723945-84723998 (+)	-173 bp
Tssr78336	Chr8:84723999-84724010 (+)	-140 bp
Tssr78337	Chr8:84724144-84724145 (+)	0 bp
Tssr78338	Chr8:84724242-84724283 (+)	118 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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