Incidental Mutation 'IGL03303:Msrb3'
ID416310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msrb3
Ensembl Gene ENSMUSG00000051236
Gene Namemethionine sulfoxide reductase B3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL03303
Quality Score
Status
Chromosome10
Chromosomal Location120781096-120899101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120784141 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000115269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092143] [ENSMUST00000130950]
Predicted Effect probably benign
Transcript: ENSMUST00000092143
AA Change: D163G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089781
Gene: ENSMUSG00000051236
AA Change: D163G

DomainStartEndE-ValueType
Pfam:SelR 41 161 1.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130950
AA Change: D91G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115269
Gene: ENSMUSG00000051236
AA Change: D91G

DomainStartEndE-ValueType
Pfam:SelR 20 90 7.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139961
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit deafness with cochlear inner and outer hair cell degeneration and increased apoptosis in the organ of Corti. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,870,077 E17G possibly damaging Het
A2m T A 6: 121,667,163 V940E probably damaging Het
Agap1 T A 1: 89,665,152 V307D probably damaging Het
Amd1 A G 10: 40,290,125 V286A possibly damaging Het
Chrne T C 11: 70,615,100 K453R possibly damaging Het
Ckm T A 7: 19,414,338 probably benign Het
Ckmt1 A G 2: 121,360,005 T138A probably benign Het
Cldn4 A G 5: 134,946,249 V166A possibly damaging Het
Dclre1a T C 19: 56,546,766 T129A possibly damaging Het
Dlgap2 T A 8: 14,727,812 D352E probably damaging Het
Dnmt1 A G 9: 20,926,710 I236T probably benign Het
Enam G T 5: 88,504,591 V1320L probably benign Het
Ezh1 A C 11: 101,195,671 probably null Het
F13b A T 1: 139,513,036 D410V possibly damaging Het
Fcrl6 A T 1: 172,597,688 Y259N probably damaging Het
Fpr-rs7 A T 17: 20,113,739 F163Y possibly damaging Het
Gpihbp1 C T 15: 75,597,978 Q181* probably null Het
Htr2b T C 1: 86,099,339 probably benign Het
Igkv1-35 A G 6: 70,011,651 I8T probably benign Het
Kcnq2 T C 2: 181,082,389 T584A probably benign Het
Khdrbs3 A G 15: 69,024,823 T111A probably benign Het
Krtap29-1 A T 11: 99,978,843 C71S probably benign Het
Lrrc4c A T 2: 97,629,592 I188F probably damaging Het
Med1 G T 11: 98,158,352 N539K probably damaging Het
Mga T A 2: 119,903,452 D260E probably damaging Het
Mnd1 A G 3: 84,104,937 I155T probably benign Het
Mycbp2 A T 14: 103,247,758 D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 probably benign Het
Nrsn2 T C 2: 152,374,211 D24G possibly damaging Het
Olfr1262 A T 2: 90,002,466 K20I possibly damaging Het
Osmr T A 15: 6,842,808 R268S probably benign Het
Pelo C A 13: 115,088,661 V343L probably damaging Het
Rp1 T A 1: 4,344,817 N2024I probably damaging Het
Rps6ka2 C T 17: 7,228,012 Q33* probably null Het
Slfn2 G A 11: 83,069,467 V91I possibly damaging Het
Socs6 G T 18: 88,869,744 A349E probably damaging Het
Syt2 A G 1: 134,741,911 N97D probably benign Het
Tas2r123 T A 6: 132,847,438 H99Q probably damaging Het
Tmc3 A G 7: 83,590,725 probably benign Het
Ube2s A T 7: 4,810,477 V35D probably damaging Het
Usp32 A T 11: 85,022,832 V891D probably damaging Het
Vmn1r169 A T 7: 23,578,009 E275D probably benign Het
Vps13c A G 9: 67,934,504 H1936R probably benign Het
Wrap73 C A 4: 154,146,543 A92E probably damaging Het
Zfhx4 C T 3: 5,403,350 T2856M probably damaging Het
Zmym1 A T 4: 127,049,134 I487N probably damaging Het
Other mutations in Msrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Msrb3 APN 10 120850001 missense possibly damaging 0.94
R0138:Msrb3 UTSW 10 120851987 missense probably damaging 1.00
R1073:Msrb3 UTSW 10 120784136 missense possibly damaging 0.96
R1946:Msrb3 UTSW 10 120852008 missense probably damaging 1.00
R2113:Msrb3 UTSW 10 120852080 missense possibly damaging 0.66
R3623:Msrb3 UTSW 10 120784198 missense probably damaging 1.00
R3741:Msrb3 UTSW 10 120784214 missense probably damaging 1.00
R4606:Msrb3 UTSW 10 120849997 missense probably damaging 1.00
R6397:Msrb3 UTSW 10 120791451 missense probably damaging 1.00
R6875:Msrb3 UTSW 10 120784106 missense probably benign 0.13
R7207:Msrb3 UTSW 10 120791400 critical splice donor site probably null
Posted On2016-08-02