Sag MGI Mouse Gene Detail - MGI:98227 - S-antigen, retina and pineal gland (arrestin)

Symbol

Sag
Name

S-antigen, retina and pineal gland (arrestin)
Synonyms

A930001K18Rik, Arr1, arrestin 1, rod arrestin, visual arrestin 1

Feature Type

protein coding gene
IDs

MGI:98227
NCBI Gene: 20215
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr1:87731402-87772880 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 44.44 cM
Mapping Data

17 experiments

SNPs within 2kb

1166 from dbSNP Build 142
Strain Annotations

18
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98227	protein coding gene	Chr1:87731402-87772880 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016270	protein coding gene	Chr1:89176270-89232389 (+)
A/J	MGP_AJ_G0016251	protein coding gene	Chr1:85832459-85881714 (+)
AKR/J	MGP_AKRJ_G0016212	protein coding gene	Chr1:88372270-88421114 (+)
BALB/cJ	MGP_BALBcJ_G0016208	protein coding gene	Chr1:85955300-85998995 (+)
C3H/HeJ	MGP_C3HHeJ_G0016036	protein coding gene	Chr1:88630999-88693344 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016665	protein coding gene	Chr1:92483381-92536140 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014386	protein coding gene	Chr1:80286178-80327261 (+)
CAST/EiJ	MGP_CASTEiJ_G0015621	protein coding gene	Chr1:87847833-87890388 (+)
CBA/J	MGP_CBAJ_G0016012	protein coding gene	Chr1:95442961-95505393 (+)
DBA/2J	MGP_DBA2J_G0016115	protein coding gene	Chr1:85127941-85172673 (+)
FVB/NJ	MGP_FVBNJ_G0016114	protein coding gene	Chr1:84192379-84235150 (+)
LP/J	MGP_LPJ_G0016186	protein coding gene	Chr1:90227822-90268547 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016140	protein coding gene	Chr1:98703564-98761706 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016707	protein coding gene	Chr1:88488722-88534415 (+)
PWK/PhJ	MGP_PWKPhJ_G0015408	protein coding gene	Chr1:84442278-84483734 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015188	protein coding gene	Chr1:87381831-87426491 (+)
WSB/EiJ	MGP_WSBEiJ_G0015685	protein coding gene	Chr1:88151125-88196400 (+)

Human Ortholog

SAG, S-antigen visual arrestin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SAG, S-antigen visual arrestin
Synonyms

RP47, RP96, S-AG
Links

HGNC:10521

NCBI Gene ID: 6295

neXtProt AC: NX_P10523

UniProt: P10523
Chr Location

2q37.1; chr2:233307816-233347055 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SAG
Gene Tree

Sag

Diseases

4 with human SAG associations

				Human Disease	Mouse Models
				hereditary night blindness IDs hereditary night blindness DOID:8498 ICD10CM:H53.63 ICD9CM_2006:368.61 ICD9CM:368.61 MESH:C537743 UMLS_CUI:C1306122
				Oguchi disease-1 IDs Oguchi disease-1 DOID:0110712 OMIM:258100
				retinitis pigmentosa IDs retinitis pigmentosa DOID:10584 DOID:14742 ICD10CM:H35.52 MESH:C538365 MESH:D012174 NCI:C85045 OMIM:PS268000 ORDO:791 UMLS_CUI:C0035334 UMLS_CUI:C0220701
				retinitis pigmentosa 47 IDs retinitis pigmentosa 47 DOID:0110369 ICD10CM:H35.5 OMIM:613758

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

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Phenotype Summary

9 phenotypes from 2 alleles in 2 genetic backgrounds
2 phenotypes from multigenic genotypes
60 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

20
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

1
Radiation induced

1
Targeted

4
Transgenic

12
Genomic Mutations

2 involving Sag
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit abnormalities in retinal rod cell outer segment morphology and rod electrophysiology.

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All GO Annotations

15
GO References

9

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

742
Tissues

17
cDNA Data

129
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sag

ZFIN sagb

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All Sequences

56
RefSeq

14
UniProt

5
CCDS

CCDS35656.1

Ensembl

ENSMUSG00000056055 (Evidence)
NCBI Gene

20215

			Length	Strain/Species	Flank
genomic	20215	NCBI Gene Model \| MGI Sequence Detail	41479	C57BL/6J	± kb
transcript	NM_009118	RefSeq \| MGI Sequence Detail	1718	ZRU/MplStud
polypeptide	P20443	UniProt \| EBI \| MGI Sequence Detail	403	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000014434 S-arrestin

(term hierarchy)
PDB

4ZWJ, 5DGY, 5W0P
InterPro Domains

IPR000698 Arrestin

IPR017864 Arrestin, conserved site

IPR011022 Arrestin C-terminal-like domain

IPR014752 Arrestin-like, C-terminal

IPR011021 Arrestin-like, N-terminal

IPR014753 Arrestin, N-terminal

IPR014756 Immunoglobulin E-set

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All nucleic 140

Genomic 8

cDNA 130

Primer pair 1

Other 1

Microarray probesets 3

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MGD-MRK-14285, MGI:2442817

Summaries

All 122

Developmental Gene Expression 9

Gene Ontology 9

Phenotypes 60
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

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

TSS for Sag:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7894	Chr1:87731360-87731384 (+)	-30 bp
Tssr7895	Chr1:87731585-87731602 (+)	192 bp
Tssr7896	Chr1:87731619-87731628 (+)	222 bp
Tssr7897	Chr1:87731637-87731651 (+)	242 bp
Tssr7898	Chr1:87731655-87731667 (+)	259 bp
Tssr7899	Chr1:87741064-87741073 (+)	9,667 bp
Tssr7900	Chr1:87742518-87742530 (+)	11,122 bp
Tssr7901	Chr1:87756011-87756014 (+)	24,611 bp
Tssr7902	Chr1:87756289-87756315 (+)	24,900 bp
Tssr7903	Chr1:87763252-87763257 (+)	31,853 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24