Incidental Mutation 'R3905:Oxsr1'
| ID |
309154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxsr1
|
| Ensembl Gene |
ENSMUSG00000036737 |
| Gene Name |
oxidative-stress responsive 1 |
| Synonyms |
2210022N24Rik, Osr1, 2810422B09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119067498-119151493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119076178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 376
(E376G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040853]
[ENSMUST00000128880]
[ENSMUST00000143728]
[ENSMUST00000170400]
|
| AlphaFold |
Q6P9R2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040853
AA Change: E376G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042155
Gene: ENSMUSG00000036737
AA Change: E376G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
17 |
291 |
1.45e-84 |
SMART |
|
low complexity region
|
332 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
Pfam:OSR1_C
|
434 |
465 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128880
|
| SMART Domains |
Protein: ENSMUSP00000122692
Gene: ENSMUSG00000036737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
100 |
6.3e-13 |
PFAM |
|
Pfam:Pkinase
|
17 |
111 |
1.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143728
|
| SMART Domains |
Protein: ENSMUSP00000117327
Gene: ENSMUSG00000036737
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VWI|D
|
1 |
32 |
2e-14 |
PDB |
|
SCOP:d1f3mc_
|
1 |
33 |
1e-7 |
SMART |
|
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170400
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
150 |
555 |
1.2e-28 |
PFAM |
|
Pfam:MFS_1
|
178 |
514 |
7.6e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are embryonic lethal. [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 |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cct7 |
A |
T |
6: 85,443,690 (GRCm39) |
I353F |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,927,531 (GRCm39) |
L324P |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,166,294 (GRCm39) |
G563R |
possibly damaging |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
A |
G |
12: 81,014,441 (GRCm39) |
I93T |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,750 (GRCm39) |
R548* |
probably null |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Oxsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Oxsr1
|
APN |
9 |
119,088,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Oxsr1
|
APN |
9 |
119,089,167 (GRCm39) |
intron |
probably benign |
|
|
IGL02542:Oxsr1
|
APN |
9 |
119,071,801 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02806:Oxsr1
|
APN |
9 |
119,070,260 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0629:Oxsr1
|
UTSW |
9 |
119,070,850 (GRCm39) |
intron |
probably benign |
|
|
R2048:Oxsr1
|
UTSW |
9 |
119,076,140 (GRCm39) |
missense |
probably benign |
|
|
R2094:Oxsr1
|
UTSW |
9 |
119,123,560 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2159:Oxsr1
|
UTSW |
9 |
119,133,880 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2165:Oxsr1
|
UTSW |
9 |
119,123,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Oxsr1
|
UTSW |
9 |
119,093,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6286:Oxsr1
|
UTSW |
9 |
119,093,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6899:Oxsr1
|
UTSW |
9 |
119,076,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Oxsr1
|
UTSW |
9 |
119,113,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7683:Oxsr1
|
UTSW |
9 |
119,070,821 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7715:Oxsr1
|
UTSW |
9 |
119,071,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Oxsr1
|
UTSW |
9 |
119,151,134 (GRCm39) |
nonsense |
probably null |
|
|
R9647:Oxsr1
|
UTSW |
9 |
119,083,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTATCATCTGCCCACAGG -3'
(R):5'- GTCTCGACTACCTAGCAAGTTGC -3'
Sequencing Primer
(F):5'- GCGTCGGGCCAGGAAAAC -3'
(R):5'- GCAAGTTGCAGACCAGCCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation