Incidental Mutation 'R6286:Oxsr1'
| ID |
508237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxsr1
|
| Ensembl Gene |
ENSMUSG00000036737 |
| Gene Name |
oxidative-stress responsive 1 |
| Synonyms |
2210022N24Rik, Osr1, 2810422B09Rik |
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119067498-119151493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119093948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 235
(V235A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040853]
[ENSMUST00000128880]
[ENSMUST00000143728]
[ENSMUST00000170400]
|
| AlphaFold |
Q6P9R2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040853
AA Change: V235A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042155
Gene: ENSMUSG00000036737
AA Change: V235A
| 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 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 |
|
| Meta Mutation Damage Score |
0.5248 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| 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 |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Eif3b |
G |
T |
5: 140,405,566 (GRCm39) |
D151Y |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,019,619 (GRCm39) |
T745A |
unknown |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Mrpl9 |
G |
C |
3: 94,351,097 (GRCm39) |
E92D |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,471,293 (GRCm39) |
Q539* |
probably null |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,053,445 (GRCm39) |
H152L |
possibly damaging |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
probably damaging |
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 |
|
R3905:Oxsr1
|
UTSW |
9 |
119,076,178 (GRCm39) |
missense |
probably benign |
|
|
R6017:Oxsr1
|
UTSW |
9 |
119,093,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCCCGATTTAAGTATCAAAAGAGA -3'
(R):5'- AGCTCATATGTCTATACTGTACTGAA -3'
Sequencing Primer
(F):5'- GATCCTTTTGAAGGCACAA -3'
(R):5'- GGGGCATAGACCTCTTTAGACTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation