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) question?
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

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
SMART Domains Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307

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: ENSMUST00000179393
SMART Domains Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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