Incidental Mutation 'R5993:Oxld1'
ID 480955
Institutional Source Beutler Lab
Gene Symbol Oxld1
Ensembl Gene ENSMUSG00000039670
Gene Name oxidoreductase like domain containing 1
Synonyms 1810049H13Rik
MMRRC Submission 044172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5993 (G1)
Quality Score 212.009
Status Not validated
Chromosome 11
Chromosomal Location 120347432-120348894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120347835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 121 (S121P)
Ref Sequence ENSEMBL: ENSMUSP00000036860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026452] [ENSMUST00000044007] [ENSMUST00000058370] [ENSMUST00000175970]
AlphaFold Q9CR10
Predicted Effect probably benign
Transcript: ENSMUST00000026452
SMART Domains Protein: ENSMUSP00000026452
Gene: ENSMUSG00000025386

DomainStartEndE-ValueType
Pfam:PDE6_gamma 6 87 6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044007
AA Change: S121P

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036860
Gene: ENSMUSG00000039670
AA Change: S121P

DomainStartEndE-ValueType
Pfam:Oxidored-like 131 173 1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058370
SMART Domains Protein: ENSMUSP00000062540
Gene: ENSMUSG00000049957

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
coiled coil region 160 189 N/A INTRINSIC
low complexity region 219 245 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000137632
AA Change: S83P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155421
Predicted Effect probably benign
Transcript: ENSMUST00000176120
Predicted Effect probably benign
Transcript: ENSMUST00000175970
SMART Domains Protein: ENSMUSP00000134921
Gene: ENSMUSG00000049957

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,236,604 (GRCm39) N805K probably damaging Het
Add1 A C 5: 34,758,877 (GRCm39) S64R probably damaging Het
Alas1 A G 9: 106,111,328 (GRCm39) F613L probably benign Het
Ankrd17 A T 5: 90,487,531 (GRCm39) probably benign Het
Anks3 C T 16: 4,776,001 (GRCm39) G67D probably damaging Het
Aspm C T 1: 139,407,269 (GRCm39) T2052I probably benign Het
Atp8b4 C T 2: 126,245,154 (GRCm39) V332I probably benign Het
Bin2 CGGAGCTGA C 15: 100,542,901 (GRCm39) probably null Het
Bpifb3 T A 2: 153,771,234 (GRCm39) M382K probably benign Het
Ccdc149 C T 5: 52,560,117 (GRCm39) R246Q probably damaging Het
Ccdc57 T C 11: 120,785,550 (GRCm39) K462E possibly damaging Het
Cux1 T C 5: 136,392,125 (GRCm39) T9A probably benign Het
Cyp2c23 A G 19: 44,000,799 (GRCm39) Y362H probably damaging Het
D430041D05Rik A G 2: 103,998,412 (GRCm39) I998T probably damaging Het
Dclre1a A C 19: 56,531,169 (GRCm39) Y726D probably damaging Het
Dnah5 T C 15: 28,299,372 (GRCm39) V1578A probably benign Het
Dppa4 C T 16: 48,109,709 (GRCm39) R110* probably null Het
Drc7 T A 8: 95,800,820 (GRCm39) V614E probably benign Het
Garin2 C A 12: 78,762,210 (GRCm39) N12K probably damaging Het
Gcc1 G A 6: 28,424,851 (GRCm39) probably null Het
Greb1l G A 18: 10,544,455 (GRCm39) D1350N probably benign Het
Kcnc1 G A 7: 46,076,956 (GRCm39) V253M probably damaging Het
Krt78 T A 15: 101,858,884 (GRCm39) I323F probably damaging Het
Man2b2 A G 5: 36,978,324 (GRCm39) V320A probably benign Het
Mphosph9 A T 5: 124,454,161 (GRCm39) F112Y probably benign Het
Mrc1 A G 2: 14,310,138 (GRCm39) T800A probably damaging Het
Mroh1 C A 15: 76,330,880 (GRCm39) A1197E probably damaging Het
Nlrp10 A T 7: 108,526,220 (GRCm39) H39Q probably benign Het
Nop2 C T 6: 125,120,982 (GRCm39) T588I probably benign Het
Pakap A G 4: 57,855,273 (GRCm39) K444E possibly damaging Het
Prox1 T A 1: 189,894,436 (GRCm39) D3V probably damaging Het
Ptk7 T C 17: 46,876,296 (GRCm39) T1052A probably benign Het
Rhot2 T A 17: 26,060,085 (GRCm39) T299S probably benign Het
Rhov A G 2: 119,100,533 (GRCm39) F235L probably damaging Het
Runx1t1 A T 4: 13,841,863 (GRCm39) R158S probably damaging Het
Runx1t1 A T 4: 13,875,490 (GRCm39) E431D probably benign Het
Sema3e A G 5: 14,274,307 (GRCm39) E186G probably damaging Het
Sema5b T A 16: 35,466,572 (GRCm39) L158H probably damaging Het
Serpina3j A G 12: 104,280,946 (GRCm39) T40A probably benign Het
Shroom3 A T 5: 93,088,047 (GRCm39) S185C probably damaging Het
Skint6 A T 4: 112,666,276 (GRCm39) V1183D probably benign Het
Smg1 A G 7: 117,739,732 (GRCm39) V3405A probably benign Het
Supt16 C A 14: 52,415,791 (GRCm39) R357L probably damaging Het
Thrap3 A T 4: 126,069,253 (GRCm39) probably null Het
Topaz1 T C 9: 122,578,104 (GRCm39) L338S probably benign Het
Ttll3 T A 6: 113,374,992 (GRCm39) Y139* probably null Het
Ttn T G 2: 76,626,251 (GRCm39) D6641A probably damaging Het
Wwc1 T C 11: 35,743,163 (GRCm39) D886G probably benign Het
Zc3h7a T A 16: 10,968,526 (GRCm39) K484N probably damaging Het
Other mutations in Oxld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Oxld1 APN 11 120,347,714 (GRCm39) missense probably damaging 1.00
R1912:Oxld1 UTSW 11 120,347,732 (GRCm39) missense probably damaging 1.00
R2985:Oxld1 UTSW 11 120,347,862 (GRCm39) missense probably benign 0.03
R4941:Oxld1 UTSW 11 120,347,862 (GRCm39) missense probably benign 0.03
R6169:Oxld1 UTSW 11 120,347,675 (GRCm39) missense possibly damaging 0.93
R6801:Oxld1 UTSW 11 120,347,650 (GRCm39) missense probably damaging 1.00
R7464:Oxld1 UTSW 11 120,347,963 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTCCTCTAGAATGGCCAG -3'
(R):5'- ACCAGTATGTCCACTTCCCAG -3'

Sequencing Primer
(F):5'- ATACACAGTTAGGGCAGC -3'
(R):5'- AGTATGTCCACTTCCCAGATAGG -3'
Posted On 2017-06-26