Incidental Mutation 'R1073:Msrb3'
| ID |
85537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msrb3
|
| Ensembl Gene |
ENSMUSG00000051236 |
| Gene Name |
methionine sulfoxide reductase B3 |
| Synonyms |
D430026P16Rik |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
120617001-120735006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120620041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 93
(S93C)
|
| 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: S165C
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089781
Gene: ENSMUSG00000051236
AA Change: S165C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SelR
|
41 |
161 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130950
AA Change: S93C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115269
Gene: ENSMUSG00000051236
AA Change: S93C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SelR
|
20 |
90 |
7.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139961
|
| Meta Mutation Damage Score |
0.2154 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAAAGCCATCTCCGTTTGC -3'
(R):5'- GGTACAAAGTCTGTCTGGAGCCATC -3'
Sequencing Primer
(F):5'- agagagagagaaagagagagagag -3'
(R):5'- TCTTCAGCTATTGACAGGCAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation