Incidental Mutation 'R2985:Oxld1'
ID 257790
Institutional Source Beutler Lab
Gene Symbol Oxld1
Ensembl Gene ENSMUSG00000039670
Gene Name oxidoreductase like domain containing 1
Synonyms 1810049H13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R2985 (G1)
Quality Score 221
Status Not validated
Chromosome 11
Chromosomal Location 120347432-120348894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120347862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
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: T112A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036860
Gene: ENSMUSG00000039670
AA Change: T112A

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: T74A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150400
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
Predicted Effect probably benign
Transcript: ENSMUST00000176120
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Ccdc83 A G 7: 89,885,575 (GRCm39) probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cul1 T A 6: 47,479,441 (GRCm39) F236I probably damaging Het
Etl4 T C 2: 20,786,660 (GRCm39) V470A probably damaging Het
Fndc1 T C 17: 7,975,155 (GRCm39) E1428G possibly damaging Het
Gal3st1 A G 11: 3,948,618 (GRCm39) Y275C probably damaging Het
Jakmip2 G A 18: 43,704,246 (GRCm39) T366I possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Obscn A G 11: 59,023,915 (GRCm39) F585S probably damaging Het
Or8b56 G A 9: 38,739,406 (GRCm39) V140I probably benign Het
Pcdha9 A G 18: 37,131,255 (GRCm39) N108S possibly damaging Het
Pkd1l2 T C 8: 117,792,290 (GRCm39) S501G probably benign Het
Pls1 G A 9: 95,667,635 (GRCm39) T91M possibly damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Trpm5 G T 7: 142,636,675 (GRCm39) L421I probably damaging Het
Ttn A T 2: 76,574,618 (GRCm39) V25425E probably damaging Het
Zfp112 A G 7: 23,821,720 (GRCm39) D20G probably benign 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
R4941:Oxld1 UTSW 11 120,347,862 (GRCm39) missense probably benign 0.03
R5993:Oxld1 UTSW 11 120,347,835 (GRCm39) missense probably benign 0.29
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'- ACGTGCTCCTCTAGAATGGC -3'
(R):5'- CCAGTATGTCCACTTCCCAG -3'

Sequencing Primer
(F):5'- TCCTCTAGAATGGCCAGGG -3'
(R):5'- AGTATGTCCACTTCCCAGATAGG -3'
Posted On 2015-01-11