Incidental Mutation 'R5466:Msrb1'
ID 433259
Institutional Source Beutler Lab
Gene Symbol Msrb1
Ensembl Gene ENSMUSG00000075705
Gene Name methionine sulfoxide reductase B1
Synonyms Sepx1, Sepr, D17Wsu82e, SelR
MMRRC Submission 043027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5466 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24955616-24961752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24958533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 39 (H39L)
Ref Sequence ENSEMBL: ENSMUSP00000110917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045186] [ENSMUST00000101800] [ENSMUST00000115262] [ENSMUST00000170239]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045186
SMART Domains Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 181 5.1e-72 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101800
AA Change: H39L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099300
Gene: ENSMUSG00000075705
AA Change: H39L

DomainStartEndE-ValueType
Pfam:SelR 5 105 9.7e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115262
AA Change: H39L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110917
Gene: ENSMUSG00000075705
AA Change: H39L

DomainStartEndE-ValueType
Pfam:SelR 7 106 6.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170239
SMART Domains Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 375 1.2e-178 PFAM
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit oxidative stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,541,733 (GRCm39) A17E probably benign Het
Actc1 T C 2: 113,880,979 (GRCm39) D82G probably damaging Het
Aox1 G C 1: 58,080,619 (GRCm39) E23Q probably damaging Het
Arap3 A G 18: 38,129,789 (GRCm39) V124A probably benign Het
Armc5 A G 7: 127,839,336 (GRCm39) N218S probably damaging Het
Cacna2d1 T A 5: 16,451,712 (GRCm39) V192E probably damaging Het
Col6a5 T A 9: 105,808,282 (GRCm39) E922V unknown Het
Dennd4b G A 3: 90,175,807 (GRCm39) probably null Het
Dnah12 A G 14: 26,493,007 (GRCm39) D1256G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,325,684 (GRCm39) E707G probably damaging Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fgf11 T C 11: 69,690,267 (GRCm39) I107V probably damaging Het
Fuca2 C T 10: 13,388,441 (GRCm39) Q406* probably null Het
Gm10428 A G 11: 62,643,932 (GRCm39) probably benign Het
Gm17430 A G 18: 9,726,228 (GRCm39) V148A probably benign Het
Gm5930 A T 14: 44,575,014 (GRCm39) N57K probably damaging Het
Gucy2c T A 6: 136,758,463 (GRCm39) K48* probably null Het
Ip6k2 C T 9: 108,675,661 (GRCm39) R109C probably damaging Het
Kif21b T A 1: 136,075,263 (GRCm39) F159I probably damaging Het
Macf1 A T 4: 123,346,658 (GRCm39) S1981T possibly damaging Het
Mga T A 2: 119,733,178 (GRCm39) L9M probably damaging Het
Mov10l1 T C 15: 88,869,904 (GRCm39) probably null Het
Or4c117 A T 2: 88,955,477 (GRCm39) F199L probably benign Het
Or6b1 A T 6: 42,815,027 (GRCm39) T71S probably benign Het
Pcdha1 G A 18: 37,065,312 (GRCm39) A659T possibly damaging Het
Pcm1 T A 8: 41,725,499 (GRCm39) probably null Het
Rfpl4b C A 10: 38,697,394 (GRCm39) C69F probably damaging Het
Tnn G A 1: 159,948,106 (GRCm39) T869I possibly damaging Het
Trp53i11 C A 2: 93,029,728 (GRCm39) L121I possibly damaging Het
Uimc1 A G 13: 55,223,661 (GRCm39) S204P probably damaging Het
Usp43 A T 11: 67,804,709 (GRCm39) N169K probably damaging Het
Vldlr A G 19: 27,217,243 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,579,030 (GRCm39) I834M probably damaging Het
Zbtb21 A G 16: 97,751,698 (GRCm39) S690P possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Msrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3922:Msrb1 UTSW 17 24,959,057 (GRCm39) missense probably damaging 0.97
R4776:Msrb1 UTSW 17 24,959,147 (GRCm39) missense probably damaging 1.00
R6865:Msrb1 UTSW 17 24,955,685 (GRCm39) missense possibly damaging 0.88
R7196:Msrb1 UTSW 17 24,958,556 (GRCm39) missense probably benign 0.30
R9738:Msrb1 UTSW 17 24,958,535 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTAACCAATGGGCCATGAGCAG -3'
(R):5'- GGTGGAGACCTGAGATAACCTC -3'

Sequencing Primer
(F):5'- AGGGTGCTGAATGGGCTCC -3'
(R):5'- CCTCATGAGGGAGCAAAAGAAAAG -3'
Posted On 2016-10-06