Incidental Mutation 'IGL00972:Oacyl'
ID 29453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oacyl
Ensembl Gene ENSMUSG00000046610
Gene Name O-acyltransferase like
Synonyms 5330437I02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL00972
Quality Score
Status
Chromosome 18
Chromosomal Location 65831339-65884672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65858572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 226 (L226R)
Ref Sequence ENSEMBL: ENSMUSP00000113626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115097] [ENSMUST00000117694]
AlphaFold Q8BML2
Predicted Effect possibly damaging
Transcript: ENSMUST00000115097
AA Change: L299R

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: L299R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
NRF 24 145 3.58e-13 SMART
Blast:NRF 152 191 1e-6 BLAST
Pfam:Acyl_transf_3 274 664 6.8e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117694
AA Change: L226R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: L226R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:NRF 24 118 4e-14 BLAST
Pfam:Acyl_transf_3 201 591 6.7e-23 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cdc42bpa A G 1: 179,902,249 (GRCm39) Q502R probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Cyp3a44 A T 5: 145,716,534 (GRCm39) M352K possibly damaging Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Icam5 T A 9: 20,945,993 (GRCm39) V275E probably damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntn1 T A 11: 68,104,098 (GRCm39) I517F possibly damaging Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pibf1 T A 14: 99,416,885 (GRCm39) L486* probably null Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tacr3 T G 3: 134,638,116 (GRCm39) N424K probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K probably damaging Het
Other mutations in Oacyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Oacyl APN 18 65,882,711 (GRCm39) missense possibly damaging 0.65
IGL01970:Oacyl APN 18 65,882,785 (GRCm39) missense possibly damaging 0.77
IGL02030:Oacyl APN 18 65,870,981 (GRCm39) missense probably damaging 0.99
IGL02706:Oacyl APN 18 65,882,792 (GRCm39) missense probably damaging 1.00
R0529:Oacyl UTSW 18 65,875,290 (GRCm39) missense probably damaging 0.97
R0607:Oacyl UTSW 18 65,880,962 (GRCm39) missense possibly damaging 0.61
R0724:Oacyl UTSW 18 65,870,896 (GRCm39) splice site probably benign
R1138:Oacyl UTSW 18 65,858,521 (GRCm39) missense probably damaging 1.00
R1482:Oacyl UTSW 18 65,871,043 (GRCm39) missense probably damaging 1.00
R1551:Oacyl UTSW 18 65,875,280 (GRCm39) missense probably benign 0.02
R1649:Oacyl UTSW 18 65,883,167 (GRCm39) missense probably damaging 1.00
R1919:Oacyl UTSW 18 65,843,618 (GRCm39) missense possibly damaging 0.87
R4271:Oacyl UTSW 18 65,871,038 (GRCm39) missense probably damaging 1.00
R5443:Oacyl UTSW 18 65,883,253 (GRCm39) missense probably benign
R5525:Oacyl UTSW 18 65,878,427 (GRCm39) missense probably benign 0.00
R5879:Oacyl UTSW 18 65,882,743 (GRCm39) missense probably damaging 1.00
R6132:Oacyl UTSW 18 65,859,426 (GRCm39) missense probably damaging 1.00
R6367:Oacyl UTSW 18 65,858,515 (GRCm39) missense probably damaging 1.00
R7009:Oacyl UTSW 18 65,855,609 (GRCm39) nonsense probably null
R7097:Oacyl UTSW 18 65,853,323 (GRCm39) missense probably benign 0.00
R7122:Oacyl UTSW 18 65,853,323 (GRCm39) missense probably benign 0.00
R7132:Oacyl UTSW 18 65,831,480 (GRCm39) missense probably damaging 1.00
R7260:Oacyl UTSW 18 65,831,438 (GRCm39) missense probably damaging 1.00
R7403:Oacyl UTSW 18 65,870,966 (GRCm39) missense probably benign 0.15
R7501:Oacyl UTSW 18 65,858,369 (GRCm39) splice site probably null
R7759:Oacyl UTSW 18 65,843,631 (GRCm39) missense probably damaging 1.00
R7892:Oacyl UTSW 18 65,870,918 (GRCm39) missense probably benign 0.00
R7921:Oacyl UTSW 18 65,858,454 (GRCm39) missense probably benign
R7977:Oacyl UTSW 18 65,831,462 (GRCm39) missense probably benign 0.18
R7987:Oacyl UTSW 18 65,831,462 (GRCm39) missense probably benign 0.18
R9065:Oacyl UTSW 18 65,840,484 (GRCm39) missense probably damaging 1.00
R9318:Oacyl UTSW 18 65,858,415 (GRCm39) missense probably benign
R9561:Oacyl UTSW 18 65,831,414 (GRCm39) missense possibly damaging 0.52
R9609:Oacyl UTSW 18 65,843,599 (GRCm39) missense probably benign
R9613:Oacyl UTSW 18 65,864,524 (GRCm39) missense probably damaging 0.99
R9747:Oacyl UTSW 18 65,880,962 (GRCm39) missense possibly damaging 0.65
Z1177:Oacyl UTSW 18 65,858,418 (GRCm39) missense probably benign 0.04
Posted On 2013-04-17