Incidental Mutation 'R4537:Oxr1'
| ID |
333392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxr1
|
| Ensembl Gene |
ENSMUSG00000022307 |
| Gene Name |
oxidation resistance 1 |
| Synonyms |
2210416C20Rik, C7, C7B |
| MMRRC Submission |
041774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
41310878-41724444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41683915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 515
(Q515R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022918]
[ENSMUST00000090095]
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000170127]
[ENSMUST00000179393]
[ENSMUST00000229511]
[ENSMUST00000230203]
[ENSMUST00000230778]
[ENSMUST00000229769]
|
| AlphaFold |
Q4KMM3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022918
AA Change: Q427R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: Q427R
| 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: Q427R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: Q427R
| 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: Q427R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: Q427R
| 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: Q515R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: Q515R
| 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: Q508R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: Q508R
| 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: Q427R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: Q427R
| 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 |
possibly damaging
Transcript: ENSMUST00000230203
AA Change: Q515R
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230778
AA Change: Q427R
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229769
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
| Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
| Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,424 (GRCm39) |
T560A |
probably benign |
Het |
| Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
| Fus |
A |
G |
7: 127,575,087 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm14412 |
T |
A |
2: 177,006,352 (GRCm39) |
K514N |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
| Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
| Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
| Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
| Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
| Slc2a3 |
C |
A |
6: 122,714,063 (GRCm39) |
G157V |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Srd5a3 |
G |
A |
5: 76,297,798 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
| Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCACTGCAGCAAGAGGC -3'
(R):5'- ACATGTTCCCGGAATAAAGCC -3'
Sequencing Primer
(F):5'- GGCAGGTGAAGACAGTGTATC -3'
(R):5'- CCAGTCAAGAGTGGTTTGCTTCTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation