Incidental Mutation 'IGL02810:Oxr1'
ID360529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxr1
Ensembl Gene ENSMUSG00000022307
Gene Nameoxidation resistance 1
SynonymsC7B, 2210416C20Rik, C7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02810
Quality Score
Status
Chromosome15
Chromosomal Location41447482-41861048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 41813583 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 91 (V91I)
Ref Sequence ENSEMBL: ENSMUSP00000155161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000229511] [ENSMUST00000229769] [ENSMUST00000230203] [ENSMUST00000230778]
Predicted Effect probably benign
Transcript: ENSMUST00000022918
AA Change: V91I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: V91I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000090095
AA Change: V91I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: V91I

DomainStartEndE-ValueType
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: ENSMUST00000090096
AA Change: V91I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: V91I

DomainStartEndE-ValueType
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
AA Change: V179I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: V179I

DomainStartEndE-ValueType
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: ENSMUST00000170127
AA Change: V172I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: V172I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000179393
AA Change: V91I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: V91I

DomainStartEndE-ValueType
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
AA Change: V110I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000230203
AA Change: V179I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000230778
AA Change: V91I

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,101,535 K1491E probably damaging Het
Abi3bp T C 16: 56,677,775 S696P probably damaging Het
Ago1 A G 4: 126,443,093 V273A probably benign Het
Bbs2 A G 8: 94,086,911 Y213H probably benign Het
Car10 T A 11: 93,578,696 Y142N probably damaging Het
Ccdc130 A G 8: 84,264,368 probably benign Het
Eml6 T C 11: 29,849,016 K415E possibly damaging Het
Exoc3l A T 8: 105,295,348 I41N probably damaging Het
Fam214b C A 4: 43,034,429 V389F probably damaging Het
Fat3 T C 9: 16,376,850 D459G probably damaging Het
Gabbr1 T C 17: 37,062,762 F401L probably damaging Het
Galnt10 G A 11: 57,725,586 R109Q probably damaging Het
Gpr108 C T 17: 57,242,742 D265N probably benign Het
Helb T C 10: 120,091,703 N834S possibly damaging Het
Igkv8-30 A G 6: 70,117,358 V23A probably benign Het
Iqck A T 7: 118,971,439 K271N possibly damaging Het
Klhl17 T C 4: 156,234,057 E36G possibly damaging Het
Klrb1b A G 6: 128,818,467 probably null Het
Mybl1 T C 1: 9,678,388 T328A probably benign Het
Mybl1 G A 1: 9,673,115 P571S probably damaging Het
Nav3 A T 10: 109,816,274 D873E probably damaging Het
Nms T C 1: 38,948,644 Y147H possibly damaging Het
Nrde2 A T 12: 100,143,758 M338K possibly damaging Het
Oasl2 T A 5: 114,897,791 F43I probably damaging Het
Pcnx2 C T 8: 125,887,203 C503Y probably benign Het
Polr2m A T 9: 71,483,566 I14K probably benign Het
Ppara T C 15: 85,777,677 S40P probably damaging Het
Shisa6 T A 11: 66,224,948 T288S possibly damaging Het
Slc26a5 T C 5: 21,813,383 probably benign Het
Spag1 A G 15: 36,234,547 N818D probably damaging Het
Srcap T C 7: 127,521,663 probably null Het
Tctn1 C T 5: 122,242,601 probably null Het
Triobp A G 15: 79,002,203 N507S possibly damaging Het
Ugt2b34 C A 5: 86,906,524 V133L probably benign Het
Zcchc6 A G 13: 59,782,016 probably null Het
Other mutations in Oxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Oxr1 APN 15 41820143 missense possibly damaging 0.46
IGL02243:Oxr1 APN 15 41535701 utr 5 prime probably benign
IGL02711:Oxr1 APN 15 41653671 splice site probably benign
IGL02850:Oxr1 APN 15 41854933 missense probably damaging 1.00
IGL03028:Oxr1 APN 15 41817163 missense probably damaging 1.00
IGL03126:Oxr1 APN 15 41820249 missense possibly damaging 0.66
PIT4378001:Oxr1 UTSW 15 41801582 missense probably benign 0.01
R0004:Oxr1 UTSW 15 41820540 missense possibly damaging 0.64
R0276:Oxr1 UTSW 15 41820062 missense probably damaging 1.00
R0394:Oxr1 UTSW 15 41817197 missense probably damaging 1.00
R1513:Oxr1 UTSW 15 41797474 missense probably damaging 1.00
R1742:Oxr1 UTSW 15 41850559 missense probably damaging 1.00
R2145:Oxr1 UTSW 15 41819944 missense probably damaging 1.00
R2924:Oxr1 UTSW 15 41825957 missense probably benign 0.01
R3732:Oxr1 UTSW 15 41848701 missense probably damaging 1.00
R4537:Oxr1 UTSW 15 41820519 missense possibly damaging 0.67
R4722:Oxr1 UTSW 15 41813649 missense probably damaging 1.00
R4935:Oxr1 UTSW 15 41813584 missense probably benign 0.00
R5417:Oxr1 UTSW 15 41820371 missense probably benign 0.00
R6029:Oxr1 UTSW 15 41825901 missense probably damaging 1.00
R6187:Oxr1 UTSW 15 41825919 missense probably damaging 1.00
R6864:Oxr1 UTSW 15 41823387 missense probably damaging 1.00
R6950:Oxr1 UTSW 15 41820555 missense probably benign 0.00
R7225:Oxr1 UTSW 15 41813608 missense not run
R7288:Oxr1 UTSW 15 41813608 missense not run
R7305:Oxr1 UTSW 15 41813608 missense not run
X0025:Oxr1 UTSW 15 41820452 missense probably damaging 1.00
Posted On2015-12-18