Incidental Mutation 'IGL02706:Oacyl'
ID304340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oacyl
Ensembl Gene ENSMUSG00000046610
Gene NameO-acyltransferase like
Synonyms5330437I02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02706
Quality Score
Status
Chromosome18
Chromosomal Location65698268-65751601 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65749721 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 629 (Y629F)
Ref Sequence ENSEMBL: ENSMUSP00000110749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115097] [ENSMUST00000117694]
Predicted Effect probably damaging
Transcript: ENSMUST00000115097
AA Change: Y629F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: Y629F

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: Y556F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: Y556F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134343
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,298,992 E781G probably benign Het
Abcc8 C T 7: 46,166,921 R265Q probably benign Het
Agtr1b A T 3: 20,315,863 I193N probably benign Het
Atp6v1e2 A G 17: 86,944,934 I12T probably damaging Het
Cacna1g T C 11: 94,456,992 T757A probably damaging Het
Cldn15 A G 5: 136,974,831 K200R probably benign Het
Dip2b G T 15: 100,215,311 V1302F probably damaging Het
Dnajb6 T A 5: 29,752,423 Y68N probably damaging Het
Dok1 T A 6: 83,032,334 E179V probably damaging Het
Epha4 T C 1: 77,426,845 T342A probably damaging Het
Etf1 A T 18: 34,931,637 S6R possibly damaging Het
Fryl T C 5: 73,093,163 I987V probably benign Het
Gba2 C T 4: 43,567,257 G897S probably benign Het
Habp2 G T 19: 56,310,138 probably null Het
Hapln1 G T 13: 89,605,459 S248I possibly damaging Het
Hydin A G 8: 110,410,566 D667G probably damaging Het
Kcnma1 T A 14: 23,309,154 H1074L probably damaging Het
Kctd9 T C 14: 67,724,681 probably null Het
L3mbtl4 A G 17: 68,486,919 D306G probably damaging Het
Lgalsl T C 11: 20,830,090 R49G probably damaging Het
Lpo C T 11: 87,817,773 S133N probably benign Het
Lrp8 A T 4: 107,803,319 R59* probably null Het
Mctp1 T C 13: 76,823,069 F629S probably damaging Het
Med1 A G 11: 98,156,707 probably benign Het
Nbea T C 3: 56,037,278 H555R probably damaging Het
Nedd1 T C 10: 92,686,285 H630R possibly damaging Het
Nr3c2 A T 8: 76,908,416 probably null Het
Nubp2 A T 17: 24,883,197 V267E probably benign Het
Olfr1475 A T 19: 13,480,098 Y33* probably null Het
Olfr353 A G 2: 36,890,719 I43T probably damaging Het
Olfr54 T A 11: 51,027,264 H87Q probably damaging Het
Pknox2 T C 9: 36,936,379 H114R probably benign Het
Ppp2r1b A G 9: 50,878,834 D564G possibly damaging Het
Ppp3ca T G 3: 136,905,318 N367K possibly damaging Het
Ptprn2 T C 12: 116,888,898 V525A probably damaging Het
Reps1 T G 10: 18,123,015 probably benign Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sipa1l1 A G 12: 82,397,433 I973V possibly damaging Het
Ssh2 T A 11: 77,453,406 V739D possibly damaging Het
Tbc1d24 A G 17: 24,185,421 F250L probably benign Het
Ube3a T A 7: 59,272,133 H84Q possibly damaging Het
Usp34 T C 11: 23,388,659 probably benign Het
Zdhhc8 G T 16: 18,224,894 L481I probably damaging Het
Zfp574 A G 7: 25,081,365 H604R probably damaging Het
Zfp945 A T 17: 22,857,282 M63K probably damaging Het
Other mutations in Oacyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Oacyl APN 18 65749640 missense possibly damaging 0.65
IGL00972:Oacyl APN 18 65725501 missense possibly damaging 0.95
IGL01970:Oacyl APN 18 65749714 missense possibly damaging 0.77
IGL02030:Oacyl APN 18 65737910 missense probably damaging 0.99
R0529:Oacyl UTSW 18 65742219 missense probably damaging 0.97
R0607:Oacyl UTSW 18 65747891 missense possibly damaging 0.61
R0724:Oacyl UTSW 18 65737825 splice site probably benign
R1138:Oacyl UTSW 18 65725450 missense probably damaging 1.00
R1482:Oacyl UTSW 18 65737972 missense probably damaging 1.00
R1551:Oacyl UTSW 18 65742209 missense probably benign 0.02
R1649:Oacyl UTSW 18 65750096 missense probably damaging 1.00
R1919:Oacyl UTSW 18 65710547 missense possibly damaging 0.87
R4271:Oacyl UTSW 18 65737967 missense probably damaging 1.00
R5443:Oacyl UTSW 18 65750182 missense probably benign
R5525:Oacyl UTSW 18 65745356 missense probably benign 0.00
R5879:Oacyl UTSW 18 65749672 missense probably damaging 1.00
R6132:Oacyl UTSW 18 65726355 missense probably damaging 1.00
R6367:Oacyl UTSW 18 65725444 missense probably damaging 1.00
Posted On2015-04-16