Incidental Mutation 'R6397:Msrb3'
| ID |
516039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msrb3
|
| Ensembl Gene |
ENSMUSG00000051236 |
| Gene Name |
methionine sulfoxide reductase B3 |
| Synonyms |
D430026P16Rik |
| MMRRC Submission |
044545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R6397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
120617001-120735006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120627356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 42
(T42I)
|
| 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: T114I
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089781
Gene: ENSMUSG00000051236
AA Change: T114I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SelR
|
41 |
161 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130950
AA Change: T42I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115269
Gene: ENSMUSG00000051236
AA Change: T42I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SelR
|
20 |
90 |
7.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139961
|
| Meta Mutation Damage Score |
0.0969 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
94% (29/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Cdh1 |
T |
C |
8: 107,330,922 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dipk1a |
T |
A |
5: 108,059,504 (GRCm39) |
K105* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,705,308 (GRCm39) |
V1137A |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Ifi203 |
C |
A |
1: 173,754,770 (GRCm39) |
V654L |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,813,355 (GRCm39) |
L787P |
probably damaging |
Het |
| Kazald1 |
A |
G |
19: 45,065,317 (GRCm39) |
E66G |
probably benign |
Het |
| Map4 |
T |
A |
9: 109,856,784 (GRCm39) |
D151E |
possibly damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,156 (GRCm39) |
C744Y |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,487,827 (GRCm39) |
H836L |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,582,152 (GRCm39) |
N653D |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,971 (GRCm39) |
Y139C |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,338 (GRCm39) |
T39A |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,558 (GRCm39) |
S313T |
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,488,516 (GRCm39) |
R65* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,285,219 (GRCm39) |
N528D |
probably benign |
Het |
| Pstpip2 |
T |
G |
18: 77,961,079 (GRCm39) |
C221G |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,610 (GRCm39) |
H195L |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sptbn2 |
A |
T |
19: 4,792,446 (GRCm39) |
E1367V |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,927 (GRCm39) |
V346A |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,353,173 (GRCm39) |
E871G |
unknown |
Het |
| Tlr9 |
A |
G |
9: 106,102,305 (GRCm39) |
N532S |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,738 (GRCm39) |
A400T |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,131 (GRCm39) |
Y828* |
probably null |
Het |
| Vps45 |
A |
G |
3: 95,950,164 (GRCm39) |
I255T |
probably benign |
Het |
| Yap1 |
T |
C |
9: 8,001,467 (GRCm39) |
Y173C |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,055 (GRCm39) |
I821F |
probably benign |
Het |
| Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
|
| Other mutations in Msrb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02546:Msrb3
|
APN |
10 |
120,685,906 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03303:Msrb3
|
APN |
10 |
120,620,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGACTGACGGTATCATTCAAC -3'
(R):5'- TTCTCGAAGCTTGAAGGAGGC -3'
Sequencing Primer
(F):5'- TTCAACCATTAAAAAGAACCTGCTG -3'
(R):5'- AGCTTGAAGGAGGCCTGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation