Incidental Mutation 'IGL01474:Acot12'
ID88394
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: 0.067) question?
Stock #IGL01474
Quality Score
Status
Chromosome13
Chromosomal Location91741512-91786148 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91772783 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 336 (K336I)
Ref Sequence ENSEMBL: ENSMUSP00000022120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022120]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022120
AA Change: K336I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: K336I

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 56,861,621 I166T possibly damaging Het
Bpifc T A 10: 86,000,639 M1L probably damaging Het
Ccnb2 T A 9: 70,419,023 N44I probably benign Het
Cdc73 C T 1: 143,671,332 V276M probably benign Het
Cnot7 A G 8: 40,507,449 probably null Het
Col11a1 T A 3: 114,217,134 probably benign Het
Coro1c T C 5: 113,882,155 probably benign Het
Crocc A G 4: 141,035,392 probably benign Het
Dync2h1 A T 9: 7,102,493 Y396N probably benign Het
Gm2888 T A 14: 3,032,041 D116E probably damaging Het
Gm29326 A T 7: 29,562,589 noncoding transcript Het
Gm9774 G T 3: 92,428,343 Q351K probably damaging Het
Greb1 A G 12: 16,684,501 V1496A probably benign Het
Hdac7 A G 15: 97,797,939 probably null Het
Hectd4 A G 5: 121,336,649 T2778A possibly damaging Het
Hist2h2bb A G 3: 96,269,809 probably benign Het
Hivep2 A T 10: 14,143,662 H2059L probably damaging Het
Ift88 A T 14: 57,478,074 I525F probably benign Het
Itga5 G A 15: 103,354,270 Q324* probably null Het
Klhl14 T G 18: 21,557,854 H513P probably damaging Het
Lama5 A T 2: 180,196,570 D837E probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Muc6 C A 7: 141,651,307 C215F probably damaging Het
Myh15 A G 16: 49,132,098 K844E probably damaging Het
Neb A G 2: 52,328,905 V31A unknown Het
Nipbl A G 15: 8,311,209 I2009T possibly damaging Het
Olfr700 A G 7: 106,805,940 I174T probably benign Het
Piwil2 T C 14: 70,398,218 R536G probably benign Het
Pld3 A G 7: 27,532,619 V412A probably damaging Het
Prkaa2 A C 4: 105,049,332 probably null Het
Rdh9 T C 10: 127,790,945 L289P probably damaging Het
Rusc2 C T 4: 43,416,434 S580L probably damaging Het
Sidt2 A G 9: 45,946,982 probably null Het
Slc18b1 A T 10: 23,803,850 K92N probably benign Het
Slc20a2 G A 8: 22,535,557 V92M possibly damaging Het
Slc4a11 A T 2: 130,685,544 F644I probably damaging Het
Spata31d1d A T 13: 59,730,215 probably benign Het
Spef2 T C 15: 9,663,158 M846V probably benign Het
Syncrip T C 9: 88,480,747 T3A probably benign 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
IGL02206:Acot12 APN 13 91759987 missense probably damaging 1.00
IGL02999:Acot12 APN 13 91759981 missense probably damaging 0.97
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 On2013-11-18