Incidental Mutation 'R6132:Oacyl'
ID 487208
Institutional Source Beutler Lab
Gene Symbol Oacyl
Ensembl Gene ENSMUSG00000046610
Gene Name O-acyltransferase like
Synonyms 5330437I02Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 65831339-65884672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65859426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 255 (G255W)
Ref Sequence ENSEMBL: ENSMUSP00000113626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115097] [ENSMUST00000117694]
AlphaFold Q8BML2
Predicted Effect probably damaging
Transcript: ENSMUST00000115097
AA Change: G328W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: G328W

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 probably damaging
Transcript: ENSMUST00000117694
AA Change: G255W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: G255W

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null Het
Other mutations in Oacyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Oacyl APN 18 65,882,711 (GRCm39) missense possibly damaging 0.65
IGL00972:Oacyl APN 18 65,858,572 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- AGTATGGCGCTTGCTTCTTC -3'
(R):5'- TACTCATGACAATGGCACTATCTAG -3'

Sequencing Primer
(F):5'- GCTTCTTCTCAAGGTGAAGTCAG -3'
(R):5'- TAGGCAGGACATCTGTTATGCAACC -3'
Posted On 2017-10-10