Incidental Mutation 'R4722:Oxr1'
| ID |
354561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxr1
|
| Ensembl Gene |
ENSMUSG00000022307 |
| Gene Name |
oxidation resistance 1 |
| Synonyms |
2210416C20Rik, C7, C7B |
| MMRRC Submission |
041987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4722 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
41310878-41724444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41677045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 132
(S132P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022918]
[ENSMUST00000090095]
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000170127]
[ENSMUST00000179393]
[ENSMUST00000229511]
[ENSMUST00000229769]
[ENSMUST00000230778]
[ENSMUST00000230203]
|
| AlphaFold |
Q4KMM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022918
AA Change: S113P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: S113P
| 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 damaging
Transcript: ENSMUST00000090095
AA Change: S113P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: S113P
| 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: ENSMUST00000090096
AA Change: S113P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: S113P
| 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: ENSMUST00000110297
AA Change: S201P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: S201P
| 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 damaging
Transcript: ENSMUST00000170127
AA Change: S194P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: S194P
| 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 damaging
Transcript: ENSMUST00000179393
AA Change: S113P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: S113P
| 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 damaging
Transcript: ENSMUST00000229769
AA Change: S132P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230778
AA Change: S113P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230203
AA Change: S201P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5574 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
T |
12: 55,107,922 (GRCm39) |
D92E |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,484,403 (GRCm39) |
F1620L |
probably damaging |
Het |
| Abcf1 |
T |
C |
17: 36,268,933 (GRCm39) |
|
probably benign |
Het |
| Adtrp |
T |
C |
13: 41,920,823 (GRCm39) |
H248R |
probably benign |
Het |
| Aldh1b1 |
T |
G |
4: 45,803,472 (GRCm39) |
F337V |
probably damaging |
Het |
| Amz2 |
C |
T |
11: 109,325,457 (GRCm39) |
L272F |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 81,859,009 (GRCm39) |
M1K |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,284,906 (GRCm39) |
V66E |
possibly damaging |
Het |
| AW554918 |
C |
A |
18: 25,307,772 (GRCm39) |
Y28* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,035,271 (GRCm39) |
P343L |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,822,445 (GRCm39) |
I846K |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,091,017 (GRCm39) |
M688K |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,586,298 (GRCm39) |
I505F |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,290,521 (GRCm39) |
V290A |
possibly damaging |
Het |
| Dtl |
G |
T |
1: 191,288,953 (GRCm39) |
Q254K |
possibly damaging |
Het |
| Enpp2 |
T |
G |
15: 54,750,985 (GRCm39) |
K265T |
probably damaging |
Het |
| Epm2aip1 |
TGTCGCCG |
TG |
9: 111,101,152 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
A |
5: 3,593,949 (GRCm39) |
|
probably null |
Het |
| Fuom |
A |
G |
7: 139,679,480 (GRCm39) |
|
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,799,734 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,252,374 (GRCm39) |
I171N |
possibly damaging |
Het |
| Gipc3 |
T |
G |
10: 81,177,129 (GRCm39) |
D147A |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,218,572 (GRCm39) |
K767R |
probably damaging |
Het |
| Kctd8 |
G |
A |
5: 69,498,544 (GRCm39) |
P34L |
possibly damaging |
Het |
| Kmt2b |
G |
A |
7: 30,282,627 (GRCm39) |
R403C |
probably damaging |
Het |
| Krt84 |
A |
T |
15: 101,436,846 (GRCm39) |
I396N |
probably damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,573,104 (GRCm39) |
F217L |
probably damaging |
Het |
| Med27 |
T |
A |
2: 29,414,447 (GRCm39) |
D290E |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,015,486 (GRCm39) |
Q184R |
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,585,265 (GRCm39) |
K591M |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,674,069 (GRCm39) |
L233H |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,443,580 (GRCm39) |
H253N |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,091,852 (GRCm39) |
E56G |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,443,492 (GRCm39) |
|
probably null |
Het |
| Or10a4 |
T |
A |
7: 106,696,777 (GRCm39) |
I35N |
possibly damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,146 (GRCm39) |
N305S |
probably damaging |
Het |
| Or4c104 |
T |
G |
2: 88,586,356 (GRCm39) |
H221P |
possibly damaging |
Het |
| Or4c15 |
T |
C |
2: 88,760,324 (GRCm39) |
I112V |
possibly damaging |
Het |
| Or5p61 |
T |
A |
7: 107,758,445 (GRCm39) |
I212F |
probably benign |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,933 (GRCm39) |
T582I |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,844,858 (GRCm39) |
I176T |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,734 (GRCm39) |
T30A |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,976,480 (GRCm39) |
M1294T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,438,952 (GRCm39) |
N20K |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,531,228 (GRCm39) |
T550S |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,638 (GRCm39) |
Y117* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,751,052 (GRCm39) |
K331I |
unknown |
Het |
| Slc5a1 |
A |
G |
5: 33,304,055 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,244 (GRCm39) |
E249G |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,650,496 (GRCm39) |
S544P |
probably damaging |
Het |
| St6galnac3 |
A |
T |
3: 153,117,166 (GRCm39) |
Y186N |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,420,900 (GRCm39) |
F346S |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,945 (GRCm39) |
I75K |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,791,313 (GRCm39) |
M1737T |
possibly damaging |
Het |
| Toe1 |
A |
T |
4: 116,662,397 (GRCm39) |
Y283N |
probably damaging |
Het |
| Tubal3 |
G |
T |
13: 3,978,185 (GRCm39) |
G34C |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,078 (GRCm39) |
Y85C |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,985,439 (GRCm39) |
C277S |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,307,536 (GRCm39) |
S162P |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,190,177 (GRCm39) |
S117P |
probably benign |
Het |
| Zic4 |
G |
T |
9: 91,261,257 (GRCm39) |
G164C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATTTCCTGGGGAAGGT -3'
(R):5'- CTCTACATTATGGGCAAGGTCCAT -3'
Sequencing Primer
(F):5'- AAGGTTGTTTGTTGGCCCTTAACAG -3'
(R):5'- TGGGCAAGGTCCATTCTAAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation