Incidental Mutation 'IGL03028:Oxr1'
ID |
408284 |
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 # |
IGL03028
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
41310878-41724444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41680559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 166
(N166D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022918]
[ENSMUST00000090095]
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000170127]
[ENSMUST00000179393]
[ENSMUST00000230778]
[ENSMUST00000229769]
[ENSMUST00000230203]
[ENSMUST00000229511]
|
AlphaFold |
Q4KMM3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022918
AA Change: N166D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022918 Gene: ENSMUSG00000022307 AA Change: N166D
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 |
possibly damaging
Transcript: ENSMUST00000090095
AA Change: N166D
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087553 Gene: ENSMUSG00000022307 AA Change: N166D
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 |
possibly damaging
Transcript: ENSMUST00000090096
AA Change: N166D
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087554 Gene: ENSMUSG00000022307 AA Change: N166D
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 |
possibly damaging
Transcript: ENSMUST00000110297
AA Change: N254D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105926 Gene: ENSMUSG00000022307 AA Change: N254D
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 |
possibly damaging
Transcript: ENSMUST00000170127
AA Change: N247D
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126266 Gene: ENSMUSG00000022307 AA Change: N247D
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 |
possibly damaging
Transcript: ENSMUST00000179393
AA Change: N166D
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136923 Gene: ENSMUSG00000022307 AA Change: N166D
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 damaging
Transcript: ENSMUST00000230778
AA Change: N166D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229769
AA Change: N185D
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230203
AA Change: N254D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229511
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
C |
9: 53,506,062 (GRCm39) |
V86G |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,174,194 (GRCm39) |
W115R |
probably benign |
Het |
Ahr |
G |
A |
12: 35,554,709 (GRCm39) |
A470V |
probably benign |
Het |
Aoah |
A |
T |
13: 21,000,752 (GRCm39) |
Q62L |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,937,524 (GRCm39) |
D100E |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,570,038 (GRCm39) |
N120D |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,736,103 (GRCm39) |
L988P |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,948,972 (GRCm39) |
H789Q |
probably damaging |
Het |
Clk1 |
G |
T |
1: 58,460,261 (GRCm39) |
S123* |
probably null |
Het |
Col10a1 |
C |
T |
10: 34,271,012 (GRCm39) |
A328V |
probably benign |
Het |
Col26a1 |
G |
T |
5: 136,771,972 (GRCm39) |
D415E |
possibly damaging |
Het |
Ctla2a |
A |
G |
13: 61,083,273 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,430,622 (GRCm39) |
E318G |
probably benign |
Het |
Dnajc16 |
C |
T |
4: 141,495,043 (GRCm39) |
W523* |
probably null |
Het |
Ehhadh |
T |
C |
16: 21,581,144 (GRCm39) |
E616G |
probably damaging |
Het |
F5 |
A |
T |
1: 164,020,569 (GRCm39) |
K1015* |
probably null |
Het |
Fam78a |
A |
G |
2: 31,972,894 (GRCm39) |
W9R |
possibly damaging |
Het |
Frs2 |
A |
T |
10: 116,909,838 (GRCm39) |
M508K |
possibly damaging |
Het |
Gm3164 |
A |
T |
14: 4,440,111 (GRCm38) |
M200L |
probably benign |
Het |
Gm44511 |
T |
C |
6: 128,757,358 (GRCm39) |
S179G |
probably damaging |
Het |
Gpr25 |
G |
A |
1: 136,188,550 (GRCm39) |
S21L |
probably benign |
Het |
Hsdl2 |
A |
G |
4: 59,594,471 (GRCm39) |
D34G |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,799,215 (GRCm39) |
|
probably null |
Het |
Kl |
A |
G |
5: 150,915,015 (GRCm39) |
Y914C |
probably damaging |
Het |
Map3k3 |
T |
G |
11: 106,001,577 (GRCm39) |
V45G |
probably damaging |
Het |
Mppe1 |
A |
C |
18: 67,360,755 (GRCm39) |
C261W |
probably damaging |
Het |
Nin |
T |
C |
12: 70,082,044 (GRCm39) |
T1640A |
probably benign |
Het |
Or51a8 |
T |
A |
7: 102,550,036 (GRCm39) |
I154N |
possibly damaging |
Het |
Or51ac3 |
A |
G |
7: 103,213,796 (GRCm39) |
|
probably null |
Het |
Or5c1 |
C |
T |
2: 37,221,968 (GRCm39) |
L70F |
probably damaging |
Het |
Or5p59 |
T |
A |
7: 107,703,380 (GRCm39) |
M288K |
probably damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,664 (GRCm39) |
Y284F |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,054,442 (GRCm39) |
|
probably benign |
Het |
Pgd |
A |
G |
4: 149,246,084 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
C |
T |
13: 6,624,429 (GRCm39) |
H831Y |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Rad51 |
A |
C |
2: 118,946,795 (GRCm39) |
M1L |
possibly damaging |
Het |
Recql5 |
G |
T |
11: 115,785,257 (GRCm39) |
S746R |
possibly damaging |
Het |
Rhbdl3 |
C |
T |
11: 80,214,287 (GRCm39) |
Q133* |
probably null |
Het |
Rpp40 |
A |
T |
13: 36,088,494 (GRCm39) |
L59Q |
probably damaging |
Het |
Rtca |
C |
A |
3: 116,286,741 (GRCm39) |
|
probably benign |
Het |
Rtkn |
C |
T |
6: 83,124,853 (GRCm39) |
Q108* |
probably null |
Het |
Shoc1 |
A |
C |
4: 59,094,274 (GRCm39) |
I150S |
possibly damaging |
Het |
Sirt6 |
C |
T |
10: 81,463,375 (GRCm39) |
|
probably benign |
Het |
Slc9a4 |
G |
A |
1: 40,649,537 (GRCm39) |
V517M |
probably benign |
Het |
Smarca2 |
G |
T |
19: 26,655,712 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,735 (GRCm39) |
D111E |
probably benign |
Het |
Tgfb1 |
T |
C |
7: 25,403,621 (GRCm39) |
I311T |
probably damaging |
Het |
Tgfb2 |
C |
T |
1: 186,362,806 (GRCm39) |
|
probably null |
Het |
Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
Tnfsf4 |
T |
C |
1: 161,223,213 (GRCm39) |
F21L |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,047,837 (GRCm39) |
T47A |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,139,785 (GRCm39) |
V2515A |
possibly damaging |
Het |
Utp6 |
T |
C |
11: 79,844,450 (GRCm39) |
K192E |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,914,328 (GRCm39) |
F631S |
possibly damaging |
Het |
Zfp516 |
A |
C |
18: 82,974,038 (GRCm39) |
I79L |
possibly 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 |
IGL03126:Oxr1
|
APN |
15 |
41,683,645 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |