Incidental Mutation 'IGL01301:Msra'
ID 73240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msra
Ensembl Gene ENSMUSG00000054733
Gene Name methionine sulfoxide reductase A
Synonyms 2310045J23Rik, 6530413P12Rik, MSR-A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL01301
Quality Score
Status
Chromosome 14
Chromosomal Location 64360074-64693352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64447884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 135 (Y135C)
Ref Sequence ENSEMBL: ENSMUSP00000147689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067927] [ENSMUST00000210363] [ENSMUST00000210428]
AlphaFold Q9D6Y7
Predicted Effect probably damaging
Transcript: ENSMUST00000067927
AA Change: Y177C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065754
Gene: ENSMUSG00000054733
AA Change: Y177C

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:PMSR 65 219 2.4e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210363
AA Change: Y113C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210428
AA Change: Y135C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this allele display an increased sensitivity to oxidative stress, reductions in related enzyme levels, and reduced life spans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
Defb21 A G 2: 152,416,671 (GRCm39) E49G possibly damaging Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Gm9884 T A 1: 25,869,729 (GRCm39) probably benign Het
Hectd2 T C 19: 36,546,770 (GRCm39) probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mindy1 T C 3: 95,195,701 (GRCm39) L148P probably damaging Het
Mkrn2 C A 6: 115,588,750 (GRCm39) Y164* probably null Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Ngdn G T 14: 55,254,571 (GRCm39) A41S probably benign Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rad23b T C 4: 55,366,774 (GRCm39) probably benign Het
Rgs13 T C 1: 144,047,152 (GRCm39) probably benign Het
Sfpq T C 4: 126,920,553 (GRCm39) probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Slco1a1 A G 6: 141,878,256 (GRCm39) probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Vmn1r18 T C 6: 57,366,652 (GRCm39) probably benign Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp395 T A 14: 65,632,200 (GRCm39) probably null Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M probably damaging Het
Other mutations in Msra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Msra APN 14 64,360,774 (GRCm39) missense probably damaging 0.99
IGL02500:Msra APN 14 64,522,637 (GRCm39) splice site probably benign
IGL03227:Msra APN 14 64,551,192 (GRCm39) missense probably benign 0.06
ANU18:Msra UTSW 14 64,447,884 (GRCm39) missense probably damaging 1.00
R0485:Msra UTSW 14 64,678,210 (GRCm39) missense possibly damaging 0.64
R0632:Msra UTSW 14 64,447,981 (GRCm39) missense probably benign 0.04
R1557:Msra UTSW 14 64,360,775 (GRCm39) missense possibly damaging 0.75
R1940:Msra UTSW 14 64,522,505 (GRCm39) splice site probably benign
R2133:Msra UTSW 14 64,471,377 (GRCm39) missense probably damaging 1.00
R2135:Msra UTSW 14 64,360,657 (GRCm39) missense probably damaging 1.00
R6119:Msra UTSW 14 64,678,183 (GRCm39) missense probably damaging 1.00
R6602:Msra UTSW 14 64,360,788 (GRCm39) missense probably benign 0.01
R7233:Msra UTSW 14 64,360,714 (GRCm39) missense probably damaging 1.00
R7249:Msra UTSW 14 64,678,212 (GRCm39) missense probably benign 0.17
R8047:Msra UTSW 14 64,522,612 (GRCm39) missense probably damaging 1.00
R9271:Msra UTSW 14 64,471,269 (GRCm39) splice site probably null
R9411:Msra UTSW 14 64,471,331 (GRCm39) missense probably benign 0.25
Posted On 2013-10-07