Incidental Mutation 'IGL03126:Oxr1'
ID |
410171 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oxr1
|
Ensembl Gene |
ENSMUSG00000022307 |
Gene Name |
oxidation resistance 1 |
Synonyms |
2210416C20Rik, C7, C7B |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03126
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
41310878-41724444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41683645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 356
(Q356L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022918]
[ENSMUST00000090095]
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000170127]
[ENSMUST00000179393]
[ENSMUST00000229511]
[ENSMUST00000230203]
[ENSMUST00000229769]
[ENSMUST00000230778]
|
AlphaFold |
Q4KMM3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022918
AA Change: Q337L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000022918 Gene: ENSMUSG00000022307 AA Change: Q337L
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: Q337L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000087553 Gene: ENSMUSG00000022307 AA Change: Q337L
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: Q337L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000087554 Gene: ENSMUSG00000022307 AA Change: Q337L
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: Q425L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000105926 Gene: ENSMUSG00000022307 AA Change: Q425L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170127
AA Change: Q418L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000126266 Gene: ENSMUSG00000022307 AA Change: Q418L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179393
AA Change: Q337L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000136923 Gene: ENSMUSG00000022307 AA Change: Q337L
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: ENSMUST00000229511
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230203
AA Change: Q425L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229769
AA Change: Q356L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230778
AA Change: Q337L
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
Other mutations in Oxr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00913:Oxr1
|
APN |
15 |
41,683,539 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02243:Oxr1
|
APN |
15 |
41,399,097 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02711:Oxr1
|
APN |
15 |
41,517,067 (GRCm39) |
splice site |
probably benign |
|
IGL02810:Oxr1
|
APN |
15 |
41,676,979 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02850:Oxr1
|
APN |
15 |
41,718,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03028:Oxr1
|
APN |
15 |
41,680,559 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Oxr1
|
UTSW |
15 |
41,664,978 (GRCm39) |
missense |
probably benign |
0.01 |
R0004:Oxr1
|
UTSW |
15 |
41,683,936 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0276:Oxr1
|
UTSW |
15 |
41,683,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R0394:Oxr1
|
UTSW |
15 |
41,680,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R1513:Oxr1
|
UTSW |
15 |
41,660,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R1742:Oxr1
|
UTSW |
15 |
41,713,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Oxr1
|
UTSW |
15 |
41,683,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R2924:Oxr1
|
UTSW |
15 |
41,689,353 (GRCm39) |
missense |
probably benign |
0.01 |
R3732:Oxr1
|
UTSW |
15 |
41,712,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R4537:Oxr1
|
UTSW |
15 |
41,683,915 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4722:Oxr1
|
UTSW |
15 |
41,677,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Oxr1
|
UTSW |
15 |
41,676,980 (GRCm39) |
missense |
probably benign |
0.00 |
R5417:Oxr1
|
UTSW |
15 |
41,683,767 (GRCm39) |
missense |
probably benign |
0.00 |
R6029:Oxr1
|
UTSW |
15 |
41,689,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Oxr1
|
UTSW |
15 |
41,689,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6864:Oxr1
|
UTSW |
15 |
41,686,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R6950:Oxr1
|
UTSW |
15 |
41,683,951 (GRCm39) |
missense |
probably benign |
0.00 |
R7225:Oxr1
|
UTSW |
15 |
41,677,004 (GRCm39) |
missense |
not run |
|
R7288:Oxr1
|
UTSW |
15 |
41,677,004 (GRCm39) |
missense |
not run |
|
R7305:Oxr1
|
UTSW |
15 |
41,677,004 (GRCm39) |
missense |
not run |
|
R7575:Oxr1
|
UTSW |
15 |
41,686,758 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7729:Oxr1
|
UTSW |
15 |
41,686,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Oxr1
|
UTSW |
15 |
41,683,263 (GRCm39) |
missense |
probably benign |
|
R7812:Oxr1
|
UTSW |
15 |
41,615,138 (GRCm39) |
start codon destroyed |
probably null |
|
R7910:Oxr1
|
UTSW |
15 |
41,517,030 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8749:Oxr1
|
UTSW |
15 |
41,574,260 (GRCm39) |
missense |
probably benign |
|
R9024:Oxr1
|
UTSW |
15 |
41,694,518 (GRCm39) |
missense |
probably damaging |
0.97 |
R9032:Oxr1
|
UTSW |
15 |
41,718,317 (GRCm39) |
missense |
probably benign |
0.03 |
R9306:Oxr1
|
UTSW |
15 |
41,686,861 (GRCm39) |
missense |
possibly damaging |
0.76 |
X0025:Oxr1
|
UTSW |
15 |
41,683,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |