Incidental Mutation 'R6864:Oxr1'
| ID |
535833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxr1
|
| Ensembl Gene |
ENSMUSG00000022307 |
| Gene Name |
oxidation resistance 1 |
| Synonyms |
2210416C20Rik, C7, C7B |
| MMRRC Submission |
044964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
41310878-41724444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41686783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 555
(V555G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022918]
[ENSMUST00000090095]
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000170127]
[ENSMUST00000179393]
[ENSMUST00000229511]
[ENSMUST00000229769]
[ENSMUST00000230203]
[ENSMUST00000230778]
|
| AlphaFold |
Q4KMM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022918
AA Change: V467G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: V467G
| 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: V467G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: V467G
| 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: V467G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: V467G
| 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: V555G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: V555G
| 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: V548G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: V548G
| 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: V467G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: V467G
| 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: ENSMUST00000229769
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230203
AA Change: V555G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230778
AA Change: V467G
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,293,545 (GRCm39) |
S33T |
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,877,011 (GRCm39) |
T541A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,917,557 (GRCm39) |
R334W |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,741,612 (GRCm39) |
V940D |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,471,011 (GRCm39) |
Y232N |
probably damaging |
Het |
| Bmp7 |
A |
G |
2: 172,781,855 (GRCm39) |
V3A |
probably benign |
Het |
| Calr |
A |
T |
8: 85,571,557 (GRCm39) |
H145Q |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,562,792 (GRCm39) |
T976S |
probably benign |
Het |
| Ccnk |
G |
A |
12: 108,168,473 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 85,015,029 (GRCm39) |
S1107P |
probably damaging |
Het |
| Cradd |
T |
C |
10: 95,011,789 (GRCm39) |
D117G |
probably damaging |
Het |
| Dcaf7 |
C |
T |
11: 105,937,647 (GRCm39) |
T90I |
probably damaging |
Het |
| Defb30 |
T |
A |
14: 63,273,552 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,795,745 (GRCm39) |
I854N |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,791,477 (GRCm39) |
T341A |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,206 (GRCm39) |
V309A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,905,640 (GRCm38) |
P1130L |
possibly damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,085 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,757,011 (GRCm39) |
K242* |
probably null |
Het |
| Kel |
A |
G |
6: 41,680,694 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,904,546 (GRCm39) |
K177N |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,354,795 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,343,313 (GRCm39) |
D1735G |
probably damaging |
Het |
| Ms4a1 |
C |
A |
19: 11,230,542 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mylk |
C |
A |
16: 34,694,520 (GRCm39) |
P193Q |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or2y16 |
G |
T |
11: 49,334,767 (GRCm39) |
A30S |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,580 (GRCm39) |
T74S |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,777 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or4f52 |
C |
T |
2: 111,061,542 (GRCm39) |
V199I |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,663,667 (GRCm39) |
S968N |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,715,761 (GRCm39) |
Y103C |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,451,133 (GRCm39) |
Y204C |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,391 (GRCm39) |
E546G |
probably damaging |
Het |
| Prss12 |
C |
A |
3: 123,241,033 (GRCm39) |
H76N |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,633,254 (GRCm39) |
S45R |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,750 (GRCm39) |
D837V |
probably benign |
Het |
| Slc22a6 |
G |
T |
19: 8,595,805 (GRCm39) |
C49F |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,775,874 (GRCm39) |
I328N |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,556,310 (GRCm39) |
I148V |
possibly damaging |
Het |
| Stk32b |
A |
T |
5: 37,606,149 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,115 (GRCm39) |
F525I |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,964,991 (GRCm39) |
I183T |
probably damaging |
Het |
| Tmem175 |
A |
C |
5: 108,793,845 (GRCm39) |
H325P |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,196 (GRCm39) |
V389A |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,809,011 (GRCm39) |
|
probably null |
Het |
| Trim28 |
T |
A |
7: 12,763,385 (GRCm39) |
F509I |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,713 (GRCm39) |
Q191L |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,756,117 (GRCm39) |
D63V |
possibly damaging |
Het |
| Zfp536 |
A |
G |
7: 37,267,940 (GRCm39) |
L492P |
probably damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,533 (GRCm39) |
N1069K |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,593 (GRCm39) |
H226Q |
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 |
|
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 |
|
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'- GTGTGAGGCAGTTAAATGAATATGC -3'
(R):5'- ATTTACCGAGAGCCCTGCTAC -3'
Sequencing Primer
(F):5'- ATGAATATGCACAAGTACCAGTAAG -3'
(R):5'- GGTCACCTTGAACTCACTGTGAATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation