Incidental Mutation 'IGL02243:Oxr1'
ID |
286077 |
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 # |
IGL02243
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
41310878-41724444 bp(+) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
T to G
at 41399097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090096]
[ENSMUST00000110297]
[ENSMUST00000179393]
[ENSMUST00000230203]
|
AlphaFold |
Q4KMM3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090096
|
SMART Domains |
Protein: ENSMUSP00000087554 Gene: ENSMUSG00000022307
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
|
SMART Domains |
Protein: ENSMUSP00000105926 Gene: ENSMUSG00000022307
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: ENSMUST00000179393
|
SMART Domains |
Protein: ENSMUSP00000136923 Gene: ENSMUSG00000022307
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: ENSMUST00000230203
|
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 |
Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
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 |
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 |
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 |
2015-04-16 |