Incidental Mutation 'IGL03028:Oxr1'
ID 408284
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) question?
Stock # IGL03028
Quality Score
Status
Chromosome 15
Chromosomal Location 41310878-41724444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41680559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 166 (N166D)
Ref Sequence ENSEMBL: ENSMUSP00000155161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000230778] [ENSMUST00000229769] [ENSMUST00000230203] [ENSMUST00000229511]
AlphaFold Q4KMM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000022918
AA Change: N166D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: N166D

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 possibly damaging
Transcript: ENSMUST00000090095
AA Change: N166D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: N166D

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 possibly damaging
Transcript: ENSMUST00000090096
AA Change: N166D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: N166D

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 possibly damaging
Transcript: ENSMUST00000110297
AA Change: N254D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: N254D

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 possibly damaging
Transcript: ENSMUST00000170127
AA Change: N247D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: N247D

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 possibly damaging
Transcript: ENSMUST00000179393
AA Change: N166D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: N166D

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 damaging
Transcript: ENSMUST00000230778
AA Change: N166D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000229769
AA Change: N185D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230203
AA Change: N254D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000229511
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Oxr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02