Incidental Mutation 'IGL00579:Oxsr1'
| ID |
332690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119067498-119151493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119088277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 43
(R43S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040853]
[ENSMUST00000128880]
[ENSMUST00000143728]
[ENSMUST00000170400]
|
| AlphaFold |
Q6P9R2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040853
AA Change: R314S
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042155
Gene: ENSMUSG00000036737
AA Change: R314S
| 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 |
probably damaging
Transcript: ENSMUST00000143728
AA Change: R43S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117327
Gene: ENSMUSG00000036737
AA Change: R43S
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
| Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
| Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
| Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
| Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
| Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
| Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
| Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
| Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
| Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
| Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
| Other mutations in Oxsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3905:Oxsr1
|
UTSW |
9 |
119,076,178 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation