Incidental Mutation 'IGL00822:Sag'
ID26575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sag
Ensembl Gene ENSMUSG00000056055
Gene NameS-antigen, retina and pineal gland (arrestin)
Synonymsarrestin 1, A930001K18Rik, arrestin, visual arrestin 1, Arr1, rod arrestin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00822
Quality Score
Status
Chromosome1
Chromosomal Location87803680-87845158 bp(+) (GRCm38)
Type of Mutationunclassified (3 bp from exon)
DNA Base Change (assembly) A to G at 87845026 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077772] [ENSMUST00000177757]
Predicted Effect probably benign
Transcript: ENSMUST00000077772
SMART Domains Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055

DomainStartEndE-ValueType
Pfam:Arrestin_N 23 181 2.8e-36 PFAM
Arrestin_C 200 361 8.24e-30 SMART
Predicted Effect probably null
Transcript: ENSMUST00000177757
SMART Domains Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055

DomainStartEndE-ValueType
Pfam:Arrestin_N 23 181 2.7e-34 PFAM
Arrestin_C 200 361 8.24e-30 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in retinal rod cell outer segment morphology and rod electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,535,758 S332P probably benign Het
Abcb4 T C 5: 8,950,046 F1005L probably benign Het
Actr2 G A 11: 20,094,367 R80W probably damaging Het
Adck1 T C 12: 88,455,516 I299T probably damaging Het
Armc4 A T 18: 7,181,817 L836M probably damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Car15 A T 16: 17,836,634 M146K probably damaging Het
Cyp4f39 A G 17: 32,470,832 N84S probably benign Het
Dock8 G T 19: 25,188,409 E1886* probably null Het
Kansl2 T C 15: 98,528,853 probably benign Het
Klc2 A T 19: 5,111,513 V323E probably damaging Het
Lrrc7 A G 3: 158,185,474 V352A probably damaging Het
Lrrc8c G T 5: 105,608,308 A650S probably benign Het
Ltbp1 A G 17: 75,151,321 Y299C probably damaging Het
Myh13 A G 11: 67,361,328 T1421A probably damaging Het
Myl3 C A 9: 110,766,489 T56K possibly damaging Het
Nod1 T C 6: 54,944,946 Y129C probably damaging Het
Otog G A 7: 46,295,880 S2187N probably benign Het
Pank4 G A 4: 154,980,602 R786H possibly damaging Het
Scn2b G A 9: 45,125,544 V117M probably damaging Het
Sec16b G T 1: 157,564,555 A886S probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spns3 A T 11: 72,499,353 probably null Het
Styk1 T C 6: 131,301,662 K350E possibly damaging Het
Tns3 G A 11: 8,443,976 T1291I probably damaging Het
Xntrpc A G 7: 102,084,368 I175V probably damaging Het
Zfp106 G A 2: 120,514,160 R1745C probably damaging Het
Other mutations in Sag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Sag APN 1 87824424 critical splice acceptor site probably null
IGL01140:Sag APN 1 87823364 missense probably benign 0.22
IGL01612:Sag APN 1 87805349 missense probably damaging 0.98
IGL02183:Sag APN 1 87828475 splice site probably null
IGL02893:Sag APN 1 87834593 missense probably benign 0.01
R0049:Sag UTSW 1 87834618 missense probably damaging 0.99
R0049:Sag UTSW 1 87834618 missense probably damaging 0.99
R0091:Sag UTSW 1 87814680 missense probably damaging 0.96
R0531:Sag UTSW 1 87834629 critical splice donor site probably null
R0609:Sag UTSW 1 87812991 missense probably damaging 0.98
R1328:Sag UTSW 1 87810294 splice site probably benign
R1395:Sag UTSW 1 87828441 missense probably benign 0.01
R1748:Sag UTSW 1 87831940 missense probably damaging 1.00
R1858:Sag UTSW 1 87814848 missense probably benign
R2020:Sag UTSW 1 87805315 missense probably damaging 1.00
R3854:Sag UTSW 1 87824518 splice site probably benign
R4021:Sag UTSW 1 87821305 critical splice acceptor site probably null
R4298:Sag UTSW 1 87845015 missense probably benign
R4630:Sag UTSW 1 87834618 missense probably damaging 0.99
R5352:Sag UTSW 1 87812993 missense probably benign 0.01
R5680:Sag UTSW 1 87821337 missense possibly damaging 0.83
R6164:Sag UTSW 1 87824453 missense probably damaging 1.00
R6407:Sag UTSW 1 87814806 missense probably benign
R7431:Sag UTSW 1 87821337 missense possibly damaging 0.83
R7548:Sag UTSW 1 87844916 missense probably benign 0.01
Posted On2013-04-17