Incidental Mutation 'IGL03303:Msrb3'
ID 416310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msrb3
Ensembl Gene ENSMUSG00000051236
Gene Name methionine sulfoxide reductase B3
Synonyms D430026P16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # IGL03303
Quality Score
Status
Chromosome 10
Chromosomal Location 120617001-120735006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120620046 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
Ezh1 A C 11: 101,086,497 (GRCm39) probably null Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Or4c127 A T 2: 89,832,810 (GRCm39) K20I possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Pelo C A 13: 115,225,197 (GRCm39) V343L probably damaging Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Socs6 G T 18: 88,887,868 (GRCm39) A349E probably damaging Het
Syt2 A G 1: 134,669,649 (GRCm39) N97D probably benign Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Ube2s A T 7: 4,813,476 (GRCm39) V35D probably damaging Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N probably damaging Het
Other mutations in Msrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Msrb3 APN 10 120,685,906 (GRCm39) missense possibly damaging 0.94
R0138:Msrb3 UTSW 10 120,687,892 (GRCm39) missense probably damaging 1.00
R1073:Msrb3 UTSW 10 120,620,041 (GRCm39) missense possibly damaging 0.96
R1946:Msrb3 UTSW 10 120,687,913 (GRCm39) missense probably damaging 1.00
R2113:Msrb3 UTSW 10 120,687,985 (GRCm39) missense possibly damaging 0.66
R3623:Msrb3 UTSW 10 120,620,103 (GRCm39) missense probably damaging 1.00
R3741:Msrb3 UTSW 10 120,620,119 (GRCm39) missense probably damaging 1.00
R4606:Msrb3 UTSW 10 120,685,902 (GRCm39) missense probably damaging 1.00
R6397:Msrb3 UTSW 10 120,627,356 (GRCm39) missense probably damaging 1.00
R6875:Msrb3 UTSW 10 120,620,011 (GRCm39) missense probably benign 0.13
R7207:Msrb3 UTSW 10 120,627,305 (GRCm39) critical splice donor site probably null
R8729:Msrb3 UTSW 10 120,687,974 (GRCm39) missense probably null 0.95
Posted On 2016-08-02