Incidental Mutation 'IGL03227:Msra'
| ID |
414127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
64360074-64693352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64551192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 50
(V50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067927]
[ENSMUST00000210363]
[ENSMUST00000210428]
|
| AlphaFold |
Q9D6Y7 |
| PDB Structure |
Solution structure of murine myristoylated msrA [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067927
AA Change: V50A
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000065754
Gene: ENSMUSG00000054733
AA Change: V50A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:PMSR
|
65 |
219 |
2.4e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210363
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210428
AA Change: V8A
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,586,556 (GRCm39) |
G172E |
probably damaging |
Het |
| Alas2 |
A |
G |
X: 149,340,262 (GRCm39) |
K151E |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,066,089 (GRCm39) |
T4353A |
probably benign |
Het |
| Arhgef1 |
C |
A |
7: 24,622,276 (GRCm39) |
D554E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,056,715 (GRCm39) |
L857Q |
probably damaging |
Het |
| Atp2b4 |
C |
A |
1: 133,657,445 (GRCm39) |
|
probably benign |
Het |
| Bche |
C |
A |
3: 73,608,945 (GRCm39) |
K160N |
probably damaging |
Het |
| Bmx |
A |
G |
X: 162,986,192 (GRCm39) |
M537T |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,922,017 (GRCm39) |
N27S |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,394,586 (GRCm39) |
L159H |
probably damaging |
Het |
| Cd34 |
G |
A |
1: 194,640,771 (GRCm39) |
C212Y |
probably damaging |
Het |
| Erich2 |
C |
T |
2: 70,343,114 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,361,107 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,452 (GRCm39) |
T254A |
probably benign |
Het |
| Fscn3 |
T |
C |
6: 28,434,429 (GRCm39) |
S335P |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Lbr |
T |
C |
1: 181,663,620 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,255,426 (GRCm39) |
F205L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,958,435 (GRCm39) |
I550N |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,218,618 (GRCm39) |
|
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,422,468 (GRCm39) |
S563T |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,518 (GRCm39) |
M59T |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,711 (GRCm39) |
V363E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,257,677 (GRCm39) |
T347M |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,999,920 (GRCm39) |
|
probably benign |
Het |
| Rtl9 |
A |
C |
X: 141,882,824 (GRCm39) |
T79P |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,576,410 (GRCm39) |
|
probably null |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Smurf1 |
G |
T |
5: 144,835,992 (GRCm39) |
P123H |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,571,639 (GRCm39) |
T590A |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,796,483 (GRCm39) |
S780P |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,764,143 (GRCm39) |
Y250H |
probably benign |
Het |
| Zfp770 |
A |
T |
2: 114,027,570 (GRCm39) |
C166* |
probably null |
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 |
|
|
ANU18:Msra
|
UTSW |
14 |
64,447,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation