Incidental Mutation 'R9036:Sag'
ID 687354
Institutional Source Beutler Lab
Gene Symbol Sag
Ensembl Gene ENSMUSG00000056055
Gene Name S-antigen, retina and pineal gland (arrestin)
Synonyms arrestin 1, rod arrestin, Arr1, visual arrestin 1, A930001K18Rik
MMRRC Submission 068865-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87731402-87772880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87749054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 151 (K151R)
Ref Sequence ENSEMBL: ENSMUSP00000076948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077772] [ENSMUST00000177757]
AlphaFold P20443
Predicted Effect probably damaging
Transcript: ENSMUST00000077772
AA Change: K151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055
AA Change: K151R

DomainStartEndE-ValueType
Pfam:Arrestin_N 23 181 2.8e-36 PFAM
Arrestin_C 200 361 8.24e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177757
AA Change: K151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055
AA Change: K151R

DomainStartEndE-ValueType
Pfam:Arrestin_N 23 181 2.7e-34 PFAM
Arrestin_C 200 361 8.24e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 G T 11: 54,227,840 (GRCm39) probably null Het
Anapc5 A G 5: 122,957,716 (GRCm39) L69P possibly damaging Het
Aoc1l3 CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC CCTAAATTTCC 6: 48,965,074 (GRCm39) probably benign Het
Arfgef1 A T 1: 10,259,055 (GRCm39) S681T probably benign Het
Arhgef19 A G 4: 140,976,549 (GRCm39) D437G probably damaging Het
Arhgef25 A G 10: 127,019,089 (GRCm39) V576A probably benign Het
Arl5b T C 2: 15,073,012 (GRCm39) probably null Het
Atg10 T A 13: 91,189,071 (GRCm39) T80S probably benign Het
BC034090 A G 1: 155,117,419 (GRCm39) V233A possibly damaging Het
Bicdl2 C T 17: 23,887,158 (GRCm39) R482C probably damaging Het
Ccdc63 G A 5: 122,247,346 (GRCm39) P500S probably benign Het
Ccn2 A T 10: 24,472,647 (GRCm39) T186S probably benign Het
Ccng1 A T 11: 40,643,078 (GRCm39) I123K possibly damaging Het
Ccp110 C T 7: 118,324,680 (GRCm39) S734F probably damaging Het
Cds2 T C 2: 132,139,614 (GRCm39) probably null Het
Cenpw G A 10: 30,074,523 (GRCm39) T58I probably benign Het
Cfap61 T A 2: 145,850,839 (GRCm39) L326I probably benign Het
Cgn T A 3: 94,674,551 (GRCm39) Q862L possibly damaging Het
Cntrl T A 2: 35,016,071 (GRCm39) D362E probably damaging Het
Col22a1 C T 15: 71,762,431 (GRCm39) G76E probably damaging Het
Cplane1 C T 15: 8,252,622 (GRCm39) T1948I possibly damaging Het
Crip2 A G 12: 113,108,030 (GRCm39) T140A probably benign Het
Csde1 T C 3: 102,950,976 (GRCm39) V229A probably damaging Het
Cyp2d34 A G 15: 82,500,523 (GRCm39) F439L probably damaging Het
Dync1h1 A G 12: 110,606,186 (GRCm39) T2419A probably benign Het
Dync2h1 A T 9: 7,051,495 (GRCm39) F3147I probably damaging Het
Dynlt1f T C 17: 6,916,707 (GRCm39) T101A probably benign Het
Efcab3 A G 11: 104,927,601 (GRCm39) H4790R probably benign Het
Efcab8 G A 2: 153,622,888 (GRCm39) S19N Het
Eno2 A T 6: 124,740,091 (GRCm39) I315K possibly damaging Het
Erich3 A G 3: 154,468,886 (GRCm39) T1113A unknown Het
Fam217a A T 13: 35,095,007 (GRCm39) Y251N possibly damaging Het
Fcrlb A T 1: 170,734,938 (GRCm39) H396Q probably benign Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Fgd5 A T 6: 92,046,447 (GRCm39) K1397* probably null Het
Frem1 C A 4: 82,831,785 (GRCm39) L2010F probably benign Het
Fzd8 A G 18: 9,214,661 (GRCm39) Y581C probably damaging Het
Gcc2 T C 10: 58,106,411 (GRCm39) V549A possibly damaging Het
Gcnt4 G A 13: 97,083,042 (GRCm39) V113I probably benign Het
Gldn A G 9: 54,245,747 (GRCm39) I433V probably benign Het
Gm3336 A G 8: 71,173,069 (GRCm39) D27G unknown Het
Gm6133 T A 18: 78,393,146 (GRCm39) Y47N probably damaging Het
Gm8257 A T 14: 44,893,877 (GRCm39) N62K probably benign Het
Gpr18 T G 14: 122,149,667 (GRCm39) R119S probably damaging Het
Grm5 A T 7: 87,685,397 (GRCm39) I505F possibly damaging Het
Hdgfl1 T C 13: 26,953,428 (GRCm39) E215G probably benign Het
Heg1 T A 16: 33,527,339 (GRCm39) C100S probably benign Het
Isg20l2 T C 3: 87,839,302 (GRCm39) V171A probably benign Het
Lrrc49 A T 9: 60,495,150 (GRCm39) C694S probably benign Het
Map7d1 A T 4: 126,133,911 (GRCm39) I217N probably damaging Het
Mbnl2 A T 14: 120,562,712 (GRCm39) Q21L probably benign Het
Mfsd10 A T 5: 34,792,751 (GRCm39) F220Y probably benign Het
Mmp1b A C 9: 7,387,909 (GRCm39) N28K probably null Het
Muc16 A T 9: 18,555,975 (GRCm39) N3439K unknown Het
Myef2l C A 3: 10,157,341 (GRCm39) Q495K unknown Het
Myo9a A T 9: 59,687,584 (GRCm39) K230* probably null Het
Mysm1 T C 4: 94,835,294 (GRCm39) T790A probably benign Het
Nell2 C T 15: 95,194,117 (GRCm39) C532Y probably damaging Het
Nmnat1 T A 4: 149,553,482 (GRCm39) N210I probably damaging Het
Or14j7 T G 17: 38,235,168 (GRCm39) V237G probably benign Het
Or2aj6 A T 16: 19,443,295 (GRCm39) L185* probably null Het
Or4k41 T C 2: 111,280,343 (GRCm39) I286T probably damaging Het
Or7g16 G A 9: 18,727,569 (GRCm39) T7I probably damaging Het
Pabpc6 T C 17: 9,888,281 (GRCm39) D90G probably damaging Het
Pacs2 A T 12: 113,026,104 (GRCm39) I554F possibly damaging Het
Padi3 C A 4: 140,523,004 (GRCm39) V323L probably benign Het
Piezo1 G A 8: 123,215,090 (GRCm39) P1484L Het
Pogk A G 1: 166,227,254 (GRCm39) I299T possibly damaging Het
Ptprk A G 10: 28,461,928 (GRCm39) I1164V probably benign Het
Raph1 A G 1: 60,542,124 (GRCm39) M278T unknown Het
Rasa3 T A 8: 13,645,851 (GRCm39) Q163L probably benign Het
Rbm6 T A 9: 107,660,911 (GRCm39) K884I probably damaging Het
Rtl1 A G 12: 109,559,691 (GRCm39) V716A probably benign Het
Scara5 G A 14: 66,000,197 (GRCm39) V456M probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc4a1 A T 11: 102,243,279 (GRCm39) V784D probably damaging Het
Sstr1 T C 12: 58,259,569 (GRCm39) I64T possibly damaging Het
Steap1 A G 5: 5,790,708 (GRCm39) I80T probably benign Het
Tbc1d24 T A 17: 24,427,491 (GRCm39) D157V probably benign Het
Thsd7a T C 6: 12,418,249 (GRCm39) E660G Het
Trappc3l A G 10: 33,932,786 (GRCm39) probably benign Het
Tsc22d2 T C 3: 58,323,497 (GRCm39) S130P probably benign Het
Tti2 T A 8: 31,645,814 (GRCm39) I376N probably damaging Het
Ttll2 C A 17: 7,619,054 (GRCm39) W291L probably benign Het
Ttll3 G A 6: 113,376,657 (GRCm39) V345I possibly damaging Het
Ttn A G 2: 76,565,046 (GRCm39) Y28394H probably damaging Het
Usp45 A G 4: 21,832,201 (GRCm39) Y684C probably damaging Het
Vdr A G 15: 97,765,089 (GRCm39) S217P probably benign Het
Xpot A G 10: 121,447,580 (GRCm39) L105P probably damaging Het
Zan A G 5: 137,464,206 (GRCm39) I533T probably damaging Het
Zbtb8a T C 4: 129,248,059 (GRCm39) E404G probably benign Het
Zfp106 T A 2: 120,369,906 (GRCm39) I62F probably damaging Het
Zfp451 A T 1: 33,815,562 (GRCm39) F796Y probably damaging Het
Other mutations in Sag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Sag APN 1 87,752,146 (GRCm39) critical splice acceptor site probably null
IGL00822:Sag APN 1 87,772,748 (GRCm39) splice site probably null
IGL01140:Sag APN 1 87,751,086 (GRCm39) missense probably benign 0.22
IGL01612:Sag APN 1 87,733,071 (GRCm39) missense probably damaging 0.98
IGL02183:Sag APN 1 87,756,197 (GRCm39) splice site probably null
IGL02893:Sag APN 1 87,762,315 (GRCm39) missense probably benign 0.01
R0049:Sag UTSW 1 87,762,340 (GRCm39) missense probably damaging 0.99
R0049:Sag UTSW 1 87,762,340 (GRCm39) missense probably damaging 0.99
R0091:Sag UTSW 1 87,742,402 (GRCm39) missense probably damaging 0.96
R0531:Sag UTSW 1 87,762,351 (GRCm39) critical splice donor site probably null
R0609:Sag UTSW 1 87,740,713 (GRCm39) missense probably damaging 0.98
R1328:Sag UTSW 1 87,738,016 (GRCm39) splice site probably benign
R1395:Sag UTSW 1 87,756,163 (GRCm39) missense probably benign 0.01
R1748:Sag UTSW 1 87,759,662 (GRCm39) missense probably damaging 1.00
R1858:Sag UTSW 1 87,742,570 (GRCm39) missense probably benign
R2020:Sag UTSW 1 87,733,037 (GRCm39) missense probably damaging 1.00
R3854:Sag UTSW 1 87,752,240 (GRCm39) splice site probably benign
R4021:Sag UTSW 1 87,749,027 (GRCm39) critical splice acceptor site probably null
R4298:Sag UTSW 1 87,772,737 (GRCm39) missense probably benign
R4630:Sag UTSW 1 87,762,340 (GRCm39) missense probably damaging 0.99
R5352:Sag UTSW 1 87,740,715 (GRCm39) missense probably benign 0.01
R5680:Sag UTSW 1 87,749,059 (GRCm39) missense possibly damaging 0.83
R6164:Sag UTSW 1 87,752,175 (GRCm39) missense probably damaging 1.00
R6407:Sag UTSW 1 87,742,528 (GRCm39) missense probably benign
R7431:Sag UTSW 1 87,749,059 (GRCm39) missense possibly damaging 0.83
R7548:Sag UTSW 1 87,772,638 (GRCm39) missense probably benign 0.01
R8122:Sag UTSW 1 87,762,289 (GRCm39) missense probably damaging 1.00
R8679:Sag UTSW 1 87,738,032 (GRCm39) missense probably benign 0.27
R8723:Sag UTSW 1 87,751,175 (GRCm39) critical splice donor site probably null
R8878:Sag UTSW 1 87,756,158 (GRCm39) missense probably benign 0.01
R8891:Sag UTSW 1 87,759,683 (GRCm39) missense probably damaging 1.00
R8995:Sag UTSW 1 87,733,052 (GRCm39) missense probably benign 0.00
R9123:Sag UTSW 1 87,751,043 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGATCACTATAGGCGTGG -3'
(R):5'- AGCAGATAGTTCAGGCCTTATC -3'

Sequencing Primer
(F):5'- GCGTGGCCTGTGTTCTG -3'
(R):5'- GCCTTATCTGCCCTGATCTGAGAG -3'
Posted On 2021-11-19