Incidental Mutation 'R2924:Oxr1'
| ID | 255675 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Oxr1
|
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| Ensembl Gene |
ENSMUSG00000022307 |
|---|
| Gene Name | oxidation resistance 1 |
|---|
| Synonyms | C7B, 2210416C20Rik, C7 |
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| MMRRC Submission |
040509-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | R2924 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 15 |
|---|
| Chromosomal Location | 41447482-41861048 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 41825957 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Tyrosine to Histidine
at position 526
(Y526H)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000155161
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022918]
[ENSMUST00000090095]
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000166917]
[ENSMUST00000170127]
[ENSMUST00000179393]
[ENSMUST00000230127]
[ENSMUST00000230203]
[ENSMUST00000230778]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022918
AA Change: Y526H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: Y526H
| Domain | Start | End | E-Value | Type |
|---|
|
LysM
|
11 |
54 |
2.48e-9 |
SMART |
|
low complexity region
|
113 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
TLDc
|
616 |
778 |
1.05e-80 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090095
AA Change: Y526H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: Y526H
| Domain | Start | End | E-Value | Type |
|---|
|
LysM
|
11 |
54 |
2.48e-9 |
SMART |
|
low complexity region
|
113 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
TLDc
|
589 |
751 |
1.05e-80 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090096
AA Change: Y526H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: Y526H
| Domain | Start | End | E-Value | Type |
|---|
|
LysM
|
11 |
54 |
2.48e-9 |
SMART |
|
low complexity region
|
113 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
TLDc
|
589 |
751 |
1.05e-80 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110297
AA Change: Y614H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: Y614H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
LysM
|
99 |
142 |
2.48e-9 |
SMART |
|
low complexity region
|
201 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
645 |
N/A |
INTRINSIC |
|
TLDc
|
704 |
866 |
1.05e-80 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000166917
|
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| SMART Domains |
Protein: ENSMUSP00000130456
Gene: ENSMUSG00000022307
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
54 |
216 |
1.05e-80 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170127
AA Change: Y607H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: Y607H
| Domain | Start | End | E-Value | Type |
|---|
|
LysM
|
92 |
135 |
2.48e-9 |
SMART |
|
low complexity region
|
194 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
638 |
N/A |
INTRINSIC |
|
TLDc
|
670 |
832 |
1.05e-80 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000179393
AA Change: Y526H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: Y526H
| Domain | Start | End | E-Value | Type |
|---|
|
LysM
|
11 |
54 |
2.48e-9 |
SMART |
|
low complexity region
|
113 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
TLDc
|
589 |
751 |
1.05e-80 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230127
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000230203
AA Change: Y614H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000230778
AA Change: Y526H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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| Validation Efficiency |
|
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| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in progressive cerebellar neurodegeneration and ataxia, increased apoptosis in the cerebellar granule cell layer, and premature death. [provided by MGI curators]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9 |
A |
G |
3: 97,209,753 |
S542P |
probably benign |
Het |
| Cass4 |
A |
G |
2: 172,426,672 |
R225G |
possibly damaging |
Het |
| Ddx50 |
A |
T |
10: 62,627,594 |
V440E |
probably damaging |
Het |
| Dmrtc2 |
G |
A |
7: 24,872,516 |
C12Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,809,630 |
I1693N |
probably damaging |
Het |
| Fuom |
T |
C |
7: 140,099,949 |
T110A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,836,359 |
R1354H |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,643,794 |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 |
|
probably null |
Het |
| Il2rb |
T |
C |
15: 78,491,849 |
M1V |
probably null |
Het |
| Ints6l |
A |
G |
X: 56,504,836 |
E483G |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,989,810 |
D2525N |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 |
A421V |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,824,102 |
F224L |
probably benign |
Het |
| Mrgpra1 |
G |
A |
7: 47,334,870 |
|
probably null |
Het |
| Mtbp |
G |
A |
15: 55,619,814 |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,438,729 |
T727K |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,998,003 |
K15E |
probably damaging |
Het |
| Olfr394 |
A |
G |
11: 73,887,511 |
I287T |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,178,252 |
F2563S |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,098,487 |
T236A |
probably damaging |
Het |
| Rbbp5 |
G |
C |
1: 132,492,663 |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 87,011,724 |
S512P |
probably benign |
Het |
| Srd5a1 |
A |
G |
13: 69,586,715 |
S191P |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,395,798 |
V518E |
probably damaging |
Het |
| Tmem132e |
T |
C |
11: 82,444,323 |
S652P |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,159,271 |
V102D |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 71,644,952 |
V1158A |
possibly damaging |
Het |
| Upk3a |
A |
G |
15: 85,018,149 |
Y59C |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,354,110 |
Y38C |
probably damaging |
Het |
| Zfp119a |
C |
A |
17: 55,868,343 |
D51Y |
possibly damaging |
Het |
|
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| Other mutations in Oxr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Oxr1
|
APN |
15 |
41820143 |
missense |
possibly damaging |
0.46 |
|
IGL02243:Oxr1
|
APN |
15 |
41535701 |
utr 5 prime |
probably benign |
|
|
IGL02711:Oxr1
|
APN |
15 |
41653671 |
splice site |
probably benign |
|
|
IGL02810:Oxr1
|
APN |
15 |
41813583 |
missense |
probably benign |
0.26 |
|
IGL02850:Oxr1
|
APN |
15 |
41854933 |
missense |
probably damaging |
1.00 |
|
IGL03028:Oxr1
|
APN |
15 |
41817163 |
missense |
probably damaging |
1.00 |
|
IGL03126:Oxr1
|
APN |
15 |
41820249 |
missense |
possibly damaging |
0.66 |
|
PIT4378001:Oxr1
|
UTSW |
15 |
41801582 |
missense |
probably benign |
0.01 |
|
R0004:Oxr1
|
UTSW |
15 |
41820540 |
missense |
possibly damaging |
0.64 |
|
R0276:Oxr1
|
UTSW |
15 |
41820062 |
missense |
probably damaging |
1.00 |
|
R0394:Oxr1
|
UTSW |
15 |
41817197 |
missense |
probably damaging |
1.00 |
|
R1513:Oxr1
|
UTSW |
15 |
41797474 |
missense |
probably damaging |
1.00 |
|
R1742:Oxr1
|
UTSW |
15 |
41850559 |
missense |
probably damaging |
1.00 |
|
R2145:Oxr1
|
UTSW |
15 |
41819944 |
missense |
probably damaging |
1.00 |
|
R3732:Oxr1
|
UTSW |
15 |
41848701 |
missense |
probably damaging |
1.00 |
|
R4537:Oxr1
|
UTSW |
15 |
41820519 |
missense |
possibly damaging |
0.67 |
|
R4722:Oxr1
|
UTSW |
15 |
41813649 |
missense |
probably damaging |
1.00 |
|
R4935:Oxr1
|
UTSW |
15 |
41813584 |
missense |
probably benign |
0.00 |
|
R5417:Oxr1
|
UTSW |
15 |
41820371 |
missense |
probably benign |
0.00 |
|
R6029:Oxr1
|
UTSW |
15 |
41825901 |
missense |
probably damaging |
1.00 |
|
R6187:Oxr1
|
UTSW |
15 |
41825919 |
missense |
probably damaging |
1.00 |
|
R6864:Oxr1
|
UTSW |
15 |
41823387 |
missense |
probably damaging |
1.00 |
|
R6950:Oxr1
|
UTSW |
15 |
41820555 |
missense |
probably benign |
0.00 |
|
R7225:Oxr1
|
UTSW |
15 |
41813608 |
missense |
not run |
|
|
R7288:Oxr1
|
UTSW |
15 |
41813608 |
missense |
not run |
|
|
R7305:Oxr1
|
UTSW |
15 |
41813608 |
missense |
not run |
|
|
R7575:Oxr1
|
UTSW |
15 |
41823362 |
missense |
possibly damaging |
0.80 |
|
R7729:Oxr1
|
UTSW |
15 |
41823467 |
missense |
probably damaging |
1.00 |
|
R7764:Oxr1
|
UTSW |
15 |
41819867 |
missense |
probably benign |
|
|
R7812:Oxr1
|
UTSW |
15 |
41751742 |
start codon destroyed |
probably null |
|
|
R7910:Oxr1
|
UTSW |
15 |
41653634 |
missense |
possibly damaging |
0.78 |
|
X0025:Oxr1
|
UTSW |
15 |
41820452 |
missense |
probably damaging |
1.00 |
|
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| Predicted Primers |
PCR Primer
(F):5'- GGACTTGACAAATCATAGCCAAATC -3'
(R):5'- TGGCATACCATAGGTTACACACTC -3'
Sequencing Primer
(F):5'- TGTGGTATATTTTGAAAGTCTTCAGC -3'
(R):5'- CATAGGTTACACACTCACACAAAG -3'
|
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| Posted On | 2014-12-29 |
|---|
