Incidental Mutation 'IGL02999:Acot12'
ID407231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot12
Ensembl Gene ENSMUSG00000021620
Gene Nameacyl-CoA thioesterase 12
SynonymsCach, 1300004O04Rik, 4930449F15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02999
Quality Score
Status
Chromosome13
Chromosomal Location91741512-91786148 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91759981 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 94 (V94D)
Ref Sequence ENSEMBL: ENSMUSP00000022120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022120]
Predicted Effect probably damaging
Transcript: ENSMUST00000022120
AA Change: V94D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: V94D

DomainStartEndE-ValueType
Pfam:4HBT 25 97 4.2e-12 PFAM
Pfam:4HBT 198 275 2.5e-14 PFAM
low complexity region 317 328 N/A INTRINSIC
Pfam:START 350 515 1.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161337
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 79,067,590 R297S possibly damaging Het
Abca13 G A 11: 9,581,757 probably benign Het
Adgrv1 C T 13: 81,578,854 A460T probably benign Het
Atp8a2 C A 14: 59,925,122 E717* probably null Het
Brinp3 A T 1: 146,701,849 probably null Het
Camk1d C A 2: 5,354,705 V177L probably benign Het
Chst11 A G 10: 83,191,704 I322V possibly damaging Het
Cobl T C 11: 12,343,869 T296A possibly damaging Het
Dcc A C 18: 71,378,678 F869V possibly damaging Het
Dock2 G T 11: 34,692,259 T609K probably damaging Het
Ercc5 A G 1: 44,167,654 T576A probably benign Het
Faf1 A G 4: 109,861,893 I399V probably benign Het
Fndc3b T G 3: 27,538,239 E170A probably damaging Het
Ggt7 C A 2: 155,502,713 V237L probably benign Het
Gm14085 T C 2: 122,514,514 probably benign Het
Hectd1 G T 12: 51,827,422 Q24K possibly damaging Het
Krt19 T C 11: 100,141,409 probably benign Het
Lilrb4a T C 10: 51,494,143 L259P probably damaging Het
Limd1 T C 9: 123,516,799 Y548H probably damaging Het
Lingo2 A G 4: 35,708,744 I412T probably damaging Het
Lrrc34 T A 3: 30,634,633 Q173L probably damaging Het
Lrrn3 A T 12: 41,452,751 N522K probably benign Het
Mgat4e A C 1: 134,541,190 L372R probably damaging Het
Nedd4l A G 18: 65,198,707 D638G probably damaging Het
Olfm3 T C 3: 115,122,748 M423T probably damaging Het
Olfr969 T C 9: 39,795,456 L27P probably damaging Het
Pcsk7 T A 9: 45,927,599 I603N possibly damaging Het
Ptpn2 A G 18: 67,681,510 V143A probably damaging Het
Rabgap1 C A 2: 37,483,826 D283E possibly damaging Het
Reln G A 5: 21,995,365 S1379F probably damaging Het
Rpap2 T A 5: 107,601,831 F74I possibly damaging Het
Sel1l2 T C 2: 140,230,804 E637G probably damaging Het
St18 T A 1: 6,817,605 V466E probably benign Het
Stac C A 9: 111,604,130 G207C probably damaging Het
Stra6 T A 9: 58,135,113 N8K probably benign Het
Sytl4 C T X: 133,937,978 R649Q probably benign Het
Tas1r3 A G 4: 155,862,359 V263A probably damaging Het
Tprg T C 16: 25,317,468 Y70H probably damaging Het
Other mutations in Acot12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Acot12 APN 13 91781211 nonsense probably null
IGL01114:Acot12 APN 13 91757592 splice site probably benign
IGL01376:Acot12 APN 13 91784671 missense probably damaging 0.98
IGL01474:Acot12 APN 13 91772783 missense possibly damaging 0.53
IGL02206:Acot12 APN 13 91759987 missense probably damaging 1.00
IGL03237:Acot12 APN 13 91781269 missense probably benign 0.26
R0071:Acot12 UTSW 13 91781174 splice site probably benign
R0092:Acot12 UTSW 13 91741565 missense probably damaging 1.00
R0141:Acot12 UTSW 13 91771828 missense probably benign 0.02
R0331:Acot12 UTSW 13 91760064 critical splice donor site probably null
R0525:Acot12 UTSW 13 91760067 splice site probably benign
R0544:Acot12 UTSW 13 91784656 missense probably benign 0.02
R1509:Acot12 UTSW 13 91771875 critical splice donor site probably null
R1616:Acot12 UTSW 13 91772767 missense probably benign 0.02
R1773:Acot12 UTSW 13 91757557 missense probably benign 0.27
R1897:Acot12 UTSW 13 91784397 missense probably benign
R2047:Acot12 UTSW 13 91783003 missense probably damaging 1.00
R2102:Acot12 UTSW 13 91759977 missense probably benign 0.00
R3730:Acot12 UTSW 13 91760026 missense possibly damaging 0.61
R3735:Acot12 UTSW 13 91784346 missense probably benign
R3736:Acot12 UTSW 13 91784346 missense probably benign
R3912:Acot12 UTSW 13 91770089 missense probably benign 0.01
R4156:Acot12 UTSW 13 91784763 missense probably benign 0.00
R4418:Acot12 UTSW 13 91784405 missense possibly damaging 0.46
R4879:Acot12 UTSW 13 91762964 missense probably benign 0.17
R5456:Acot12 UTSW 13 91741640 missense probably damaging 1.00
R5498:Acot12 UTSW 13 91781233 missense probably damaging 1.00
R5601:Acot12 UTSW 13 91782910 missense probably benign 0.10
R5998:Acot12 UTSW 13 91757534 missense possibly damaging 0.49
R6781:Acot12 UTSW 13 91784412 splice site probably null
R7208:Acot12 UTSW 13 91781242 missense probably benign 0.06
R7330:Acot12 UTSW 13 91741532 start codon destroyed probably null 0.89
R7560:Acot12 UTSW 13 91784391 missense probably benign
R7561:Acot12 UTSW 13 91770124 missense probably damaging 0.96
R7869:Acot12 UTSW 13 91771725 missense probably benign 0.12
R7952:Acot12 UTSW 13 91771725 missense probably benign 0.12
X0050:Acot12 UTSW 13 91771837 missense probably benign 0.00
Posted On2016-08-02