Samd8 MGI Mouse Gene Detail - MGI:1914880 - sterile alpha motif domain containing 8

Symbol

Samd8
Name

sterile alpha motif domain containing 8
Synonyms

1110053F04Rik, 1700010P07Rik, Smsr

Feature Type

protein coding gene
IDs

MGI:1914880
NCBI Gene: 67630
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr14:21800599-21848794 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 11.86 cM, cytoband B
Mapping Data

2 experiments

SNPs within 2kb

1305 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914880	protein coding gene	Chr14:21800599-21848794 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021055	protein coding gene	Chr14:14592614-14644369 (+)
A/J	MGP_AJ_G0021004	protein coding gene	Chr14:14208904-14259214 (+)
AKR/J	MGP_AKRJ_G0020981	protein coding gene	Chr14:14773786-14825508 (+)
BALB/cJ	MGP_BALBcJ_G0021007	protein coding gene	Chr14:14315868-14364500 (+)
C3H/HeJ	MGP_C3HHeJ_G0020791	protein coding gene	Chr14:14698835-14748902 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021440	protein coding gene	Chr14:15073826-15119679 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019008	protein coding gene	Chr14:14523959-14573469 (+)
CAST/EiJ	MGP_CASTEiJ_G0020315	protein coding gene	Chr14:14507467-14557358 (+)
CBA/J	MGP_CBAJ_G0020757	protein coding gene	Chr14:15848025-15903133 (+)
DBA/2J	MGP_DBA2J_G0020880	protein coding gene	Chr14:14044457-14093601 (+)
FVB/NJ	MGP_FVBNJ_G0020863	protein coding gene	Chr14:13931747-13980439 (+)
LP/J	MGP_LPJ_G0020956	protein coding gene	Chr14:14800914-14850941 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020889	protein coding gene	Chr14:15601450-15650866 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021473	protein coding gene	Chr14:14553636-14604286 (+)
PWK/PhJ	MGP_PWKPhJ_G0020064	protein coding gene	Chr14:13631863-13680543 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019886	protein coding gene	Chr14:14370904-14419692 (+)
WSB/EiJ	MGP_WSBEiJ_G0020371	protein coding gene	Chr14:14546621-14600135 (+)

Human Ortholog

SAMD8, sterile alpha motif domain containing 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SAMD8, sterile alpha motif domain containing 8
Synonyms

HEL-177, SMSr
Links

HGNC:26320

NCBI Gene ID: 142891

neXtProt AC: NX_Q96LT4

UniProt: Q96LT4
Chr Location

10q22.2; chr10:75099586-75182123 (+) GRCh38

MGI Vertebrate Homology

Samd8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SAMD8
Gene Tree

Samd8

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Phenotype Summary

7 phenotypes from 3 alleles in 2 genetic backgrounds
3 phenotypes from multigenic genotypes
9 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

14
Gene trapped

6
Targeted

8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available

Mice homozygous for a knock-out allele exhibit decreased ceramide phosphoethanolamine synthase activity but normal liver, kidney and spleen histology.

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All GO Annotations

25
GO References

7

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

706
cDNA Data

55

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase samd8

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All Sequences

56
RefSeq

6
UniProt

5
CCDS

CCDS26866.1, CCDS88594.1

Ensembl

ENSMUSG00000021770 (Evidence)
NCBI Gene

67630

			Length	Strain/Species	Flank
genomic	67630	NCBI Gene Model \| MGI Sequence Detail	48196	C57BL/6J	± kb
transcript	NM_001359954	RefSeq \| MGI Sequence Detail	7071	C57BL/6
polypeptide	Q9DA37	UniProt \| EBI \| MGI Sequence Detail	478	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000014442 sphingomyelin synthase-related protein 1

(term hierarchy)
EC

2.7.8.-
InterPro Domains

IPR045221 Sphingomyelin synthase-like

IPR025749 Sphingomyelin synthase-like domain

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain superfamily

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All nucleic 55

cDNA 55

Microarray probesets 6

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MGI:1916072

Summaries

All 33

Gene Ontology 7

Phenotypes 9
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:340294 Chiang YP, et al., Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease. J Biol Chem. 2023 Aug 14;299(9):105162

TSS for Samd8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr124446	Chr14:21800593-21800604 (+)	0 bp
Tssr124447	Chr14:21800610-21800676 (+)	44 bp
Tssr124448	Chr14:21800681-21800692 (+)	88 bp
Tssr124449	Chr14:21807838-21807842 (+)	7,241 bp
Tssr124450	Chr14:21826834-21826867 (+)	26,252 bp
Tssr124451	Chr14:21847862-21847874 (+)	47,269 bp
Tssr124452	Chr14:21847877-21847894 (+)	47,287 bp
Tssr124453	Chr14:21848041-21848063 (+)	47,453 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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