Incidental Mutation 'R0394:Oxr1'
ID 31893
Institutional Source Beutler Lab
Gene Symbol Oxr1
Ensembl Gene ENSMUSG00000022307
Gene Name oxidation resistance 1
Synonyms 2210416C20Rik, C7, C7B
MMRRC Submission 038600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0394 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 41310878-41724444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41680593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 177 (M177K)
Ref Sequence ENSEMBL: ENSMUSP00000155161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000229769] [ENSMUST00000230203] [ENSMUST00000230778] [ENSMUST00000229511]
AlphaFold Q4KMM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000022918
AA Change: M177K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: M177K

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: M177K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: M177K

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: M177K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: M177K

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: M265K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: M265K

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: M258K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: M258K

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: M177K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: M177K

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: ENSMUST00000229769
AA Change: M196K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230203
AA Change: M265K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000230778
AA Change: M177K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000229511
Meta Mutation Damage Score 0.7120 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (79/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,773,065 (GRCm39) S751R probably damaging Het
Abca8a A G 11: 109,917,169 (GRCm39) V1610A probably damaging Het
Actl10 A T 2: 154,394,957 (GRCm39) H202L probably benign Het
Alox12 A T 11: 70,136,761 (GRCm39) V489E probably damaging Het
Ap4m1 T A 5: 138,170,465 (GRCm39) F5I probably benign Het
Atn1 T C 6: 124,726,696 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,661,608 (GRCm39) N529K probably benign Het
B3gntl1 C T 11: 121,510,541 (GRCm39) G336D probably damaging Het
Bmp1 G A 14: 70,727,474 (GRCm39) A703V probably damaging Het
Brat1 T G 5: 140,704,141 (GRCm39) L798R probably damaging Het
Cacna1c C T 6: 118,602,458 (GRCm39) G1302R probably damaging Het
Cdr2 A T 7: 120,557,954 (GRCm39) D190E probably benign Het
Cenpe T C 3: 134,922,186 (GRCm39) probably benign Het
Clstn1 A G 4: 149,728,635 (GRCm39) D687G probably benign Het
Coro1a A G 7: 126,299,812 (GRCm39) F337L probably benign Het
Ddx49 T A 8: 70,749,575 (GRCm39) I252F probably damaging Het
Dennd2a T A 6: 39,499,746 (GRCm39) D273V possibly damaging Het
Derl2 A T 11: 70,905,387 (GRCm39) F32I probably benign Het
Dmrta1 A G 4: 89,580,276 (GRCm39) Y412C probably damaging Het
Dsg1a A G 18: 20,466,807 (GRCm39) N559S probably damaging Het
Dusp26 G T 8: 31,581,987 (GRCm39) R27L probably benign Het
Eif2ak3 T C 6: 70,862,202 (GRCm39) I492T probably benign Het
Exoc7 G T 11: 116,191,224 (GRCm39) Q219K probably damaging Het
F2r T C 13: 95,740,984 (GRCm39) T184A probably damaging Het
Fbf1 G A 11: 116,043,288 (GRCm39) probably benign Het
Fbxo28 A G 1: 182,144,580 (GRCm39) M328T probably benign Het
Fsip2 T A 2: 82,821,419 (GRCm39) D5717E possibly damaging Het
Gnpat C A 8: 125,606,964 (GRCm39) S373R possibly damaging Het
Golgb1 G T 16: 36,695,941 (GRCm39) probably benign Het
Greb1l T C 18: 10,523,374 (GRCm39) V844A probably damaging Het
Hps1 G T 19: 42,759,338 (GRCm39) probably null Het
Inppl1 G T 7: 101,477,402 (GRCm39) probably benign Het
Isca1 C T 13: 59,906,699 (GRCm39) probably null Het
Itgb2 T A 10: 77,378,309 (GRCm39) C46S probably damaging Het
Kifc5b C T 17: 27,142,056 (GRCm39) T178M probably benign Het
Krt80 T C 15: 101,250,180 (GRCm39) T22A probably damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Ltbp2 C T 12: 84,853,198 (GRCm39) probably benign Het
Mettl18 A G 1: 163,823,910 (GRCm39) D77G probably benign Het
Mfsd2a A G 4: 122,843,961 (GRCm39) L336P probably benign Het
Mgat4b A G 11: 50,121,746 (GRCm39) probably null Het
Mtmr14 C T 6: 113,257,649 (GRCm39) R233* probably null Het
Nbea T C 3: 55,937,328 (GRCm39) Y761C probably damaging Het
Neb A T 2: 52,067,571 (GRCm39) probably null Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Obi1 T C 14: 104,716,289 (GRCm39) R695G possibly damaging Het
Or6c70 T A 10: 129,709,811 (GRCm39) I272L probably benign Het
Pgm2l1 A G 7: 99,901,405 (GRCm39) Y98C probably damaging Het
Pi4kb G T 3: 94,904,115 (GRCm39) probably benign Het
Pi4kb G A 3: 94,904,116 (GRCm39) probably benign Het
Pirb T A 7: 3,722,247 (GRCm39) S199C probably benign Het
Prss23 A C 7: 89,159,055 (GRCm39) I338S probably damaging Het
Rapgef3 A T 15: 97,655,700 (GRCm39) probably benign Het
Rdh7 T A 10: 127,720,539 (GRCm39) T278S probably benign Het
Rrp1b A G 17: 32,277,538 (GRCm39) D606G probably benign Het
Rxfp1 T A 3: 79,559,684 (GRCm39) Y379F possibly damaging Het
Rxfp2 T C 5: 149,990,853 (GRCm39) V514A probably benign Het
Scel A T 14: 103,799,954 (GRCm39) E202V probably benign Het
Slc25a36 G A 9: 96,962,257 (GRCm39) A244V probably benign Het
Slc2a13 T G 15: 91,400,595 (GRCm39) Q209P probably damaging Het
Slc38a6 A G 12: 73,399,304 (GRCm39) N456S probably benign Het
Slc6a12 G T 6: 121,323,957 (GRCm39) probably null Het
Spag6l T C 16: 16,598,493 (GRCm39) I333V probably benign Het
Spen G A 4: 141,201,514 (GRCm39) A2371V probably benign Het
St6galnac1 T C 11: 116,657,466 (GRCm39) D366G probably damaging Het
Stk33 T C 7: 108,940,696 (GRCm39) S5G probably benign Het
Tex56 T C 13: 35,116,636 (GRCm39) probably benign Het
Tle2 T C 10: 81,413,482 (GRCm39) L84P probably damaging Het
Tmem14a T C 1: 21,296,876 (GRCm39) M78T probably damaging Het
Top2b T A 14: 16,413,556 (GRCm38) probably null Het
Trmt13 A G 3: 116,376,299 (GRCm39) F364S probably damaging Het
Unkl T A 17: 25,449,751 (GRCm39) probably null Het
Uvrag A G 7: 98,653,926 (GRCm39) probably benign Het
Vmn2r8 T A 5: 108,949,938 (GRCm39) N303I probably benign Het
Vsig10l A G 7: 43,114,879 (GRCm39) N360S probably damaging Het
Zdhhc25 T C 15: 88,485,123 (GRCm39) Y153H probably damaging Het
Zfp646 T C 7: 127,482,434 (GRCm39) V1537A possibly damaging Het
Zfp664 T A 5: 124,963,129 (GRCm39) Y174* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGAACCTTGGAGATTGAATGGTGC -3'
(R):5'- CTGATTACTTCCACACTGGGCCTTG -3'

Sequencing Primer
(F):5'- ATTGAATGGTGCTTTCTGTTTCCTC -3'
(R):5'- AACTACACACGCTACTCTTTCGG -3'
Posted On 2013-04-24