Incidental Mutation 'IGL00497:Acot6'
ID8550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot6
Ensembl Gene ENSMUSG00000043487
Gene Nameacyl-CoA thioesterase 6
Synonyms4632408A20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00497
Quality Score
Status
Chromosome12
Chromosomal Location84100654-84111349 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84109438 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 387 (R387C)
Ref Sequence ENSEMBL: ENSMUSP00000056131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046340] [ENSMUST00000056822] [ENSMUST00000123491] [ENSMUST00000136159] [ENSMUST00000156138] [ENSMUST00000222921]
Predicted Effect probably benign
Transcript: ENSMUST00000046340
SMART Domains Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
Pfam:LRR_1 32 52 8.1e-2 PFAM
Pfam:LRR_4 54 96 3.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056822
AA Change: R387C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056131
Gene: ENSMUSG00000043487
AA Change: R387C

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 16 141 1.5e-45 PFAM
Pfam:BAAT_C 203 410 4.1e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123491
SMART Domains Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
Pfam:LRR_4 93 135 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136159
SMART Domains Protein: ENSMUSP00000123497
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
PDB:1DS9|A 1 98 3e-28 PDB
SCOP:d1h6ta2 11 88 5e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143753
Predicted Effect probably benign
Transcript: ENSMUST00000156138
SMART Domains Protein: ENSMUSP00000118584
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
PDB:1M9L|A 1 50 1e-11 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000222921
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,272,933 N1076D probably damaging Het
4930579G24Rik G A 3: 79,631,291 probably benign Het
Aatk C T 11: 120,010,186 R1128Q probably benign Het
Adam11 A G 11: 102,770,147 E118G probably damaging Het
Adcyap1r1 G A 6: 55,472,279 V73I probably damaging Het
Apol8 T C 15: 77,750,014 T121A probably damaging Het
Ccdc91 C A 6: 147,606,987 Q404K unknown Het
Cpt1b T C 15: 89,422,293 K294R probably benign Het
Dnah6 A C 6: 73,195,761 V238G probably damaging Het
Dscaml1 T C 9: 45,752,238 S1920P probably damaging Het
Gcfc2 A T 6: 81,957,970 I737L probably benign Het
Gm1840 T C 8: 5,640,563 noncoding transcript Het
Gmeb1 A G 4: 132,227,985 V293A probably benign Het
Hibch A G 1: 52,885,190 probably benign Het
Ifnab A G 4: 88,691,182 Y16H probably benign Het
Il17rc T C 6: 113,474,171 V155A probably damaging Het
Lrr1 A G 12: 69,174,582 H166R probably benign Het
Map4k5 G T 12: 69,845,732 A141E probably damaging Het
Mettl17 A T 14: 51,888,835 K233N probably damaging Het
Mon2 A G 10: 123,026,299 L740S probably damaging Het
Mpdz A C 4: 81,335,742 I1051S probably benign Het
Mroh8 A G 2: 157,216,914 F944S probably damaging Het
Myh13 A G 11: 67,342,488 Y611C probably damaging Het
Npat A G 9: 53,566,800 N951D possibly damaging Het
Osmr T C 15: 6,847,066 S126G probably benign Het
Parp14 T C 16: 35,834,836 Y1755C probably damaging Het
Phf14 T C 6: 11,941,424 probably benign Het
Prex2 T A 1: 11,186,652 M1196K possibly damaging Het
Prkd1 A T 12: 50,383,481 D614E probably damaging Het
Ptprm A G 17: 66,817,972 L794P probably damaging Het
Rb1 C T 14: 73,264,598 R449H probably damaging Het
Scfd1 A G 12: 51,427,869 D469G probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sgo1 A G 17: 53,677,102 probably benign Het
Slc11a1 A G 1: 74,381,898 probably null Het
Snw1 A G 12: 87,452,580 probably null Het
Stac3 T C 10: 127,503,664 I143T probably damaging Het
Tcta A T 9: 108,305,916 L10Q probably damaging Het
Tha1 T C 11: 117,871,005 probably benign Het
Trmt1 T C 8: 84,695,509 M254T possibly damaging Het
Trps1 T A 15: 50,661,307 M887L possibly damaging Het
Zfyve28 A G 5: 34,243,195 V53A probably damaging Het
Other mutations in Acot6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Acot6 APN 12 84106476 missense probably benign 0.01
IGL01364:Acot6 APN 12 84101066 missense possibly damaging 0.78
IGL01504:Acot6 APN 12 84109402 missense probably benign 0.05
IGL01707:Acot6 APN 12 84100989 missense probably benign 0.00
R0323:Acot6 UTSW 12 84109179 missense probably benign 0.01
R0531:Acot6 UTSW 12 84101301 missense probably benign 0.00
R1640:Acot6 UTSW 12 84101126 missense probably damaging 1.00
R1934:Acot6 UTSW 12 84106593 missense probably benign 0.18
R2876:Acot6 UTSW 12 84101262 missense possibly damaging 0.87
R4989:Acot6 UTSW 12 84109015 missense probably benign 0.02
R6365:Acot6 UTSW 12 84109412 missense probably benign
R6995:Acot6 UTSW 12 84109375 missense probably damaging 1.00
R7204:Acot6 UTSW 12 84106527 missense probably benign 0.01
R7657:Acot6 UTSW 12 84106530 missense possibly damaging 0.94
Posted On2012-12-06