Incidental Mutation 'ANU18:Msra'
ID |
262556 |
Institutional Source |
Beutler Lab
|
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)
|
Stock # |
ANU18
|
Quality Score |
225 |
Status
|
Not validated
|
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
Domain | Start | End | E-Value | Type |
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
D630003M21Rik |
A |
G |
2: 158,059,568 (GRCm39) |
S111P |
probably benign |
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 |
Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
Lct |
T |
A |
1: 128,235,784 (GRCm39) |
R408* |
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 |
Rab40b |
C |
G |
11: 121,248,788 (GRCm39) |
V156L |
probably benign |
Het |
Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
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 |
Tshz1 |
A |
G |
18: 84,032,786 (GRCm39) |
Y541H |
probably damaging |
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 |
Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
probably damaging |
Het |
|
Other mutations in Msra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00898:Msra
|
APN |
14 |
64,360,774 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01301:Msra
|
APN |
14 |
64,447,884 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCTGACAGAGCGACAGCACC -3'
(R):5'- ACTGGTCACAACAACTATGTCCACTG -3'
Sequencing Primer
(F):5'- TCATTCACCAGGATGAGCTG -3'
(R):5'- TTGGTACACAGTACCGGTCA -3'
|
Posted On |
2015-02-04 |