Incidental Mutation 'R7208:Acot12'
ID 560883
Institutional Source Beutler Lab
Gene Symbol Acot12
Ensembl Gene ENSMUSG00000021620
Gene Name acyl-CoA thioesterase 12
Synonyms Cach, 4930449F15Rik, 1300004O04Rik
MMRRC Submission 045285-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R7208 (G1)
Quality Score 140.008
Status Validated
Chromosome 13
Chromosomal Location 91889635-91934271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91929361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 396 (L396P)
Ref Sequence ENSEMBL: ENSMUSP00000022120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022120]
AlphaFold Q9DBK0
Predicted Effect probably benign
Transcript: ENSMUST00000022120
AA Change: L396P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: L396P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,629 (GRCm39) K854E probably damaging Het
Abcd2 G T 15: 91,074,885 (GRCm39) Y309* probably null Het
Ache G A 5: 137,289,751 (GRCm39) G360D probably damaging Het
Acox2 T G 14: 8,241,303 (GRCm38) D603A probably benign Het
Adam3 C A 8: 25,201,417 (GRCm39) K245N probably damaging Het
Ankhd1 T C 18: 36,758,081 (GRCm39) I925T probably benign Het
Arhgap27 C T 11: 103,251,585 (GRCm39) V48M probably damaging Het
Atm A T 9: 53,423,308 (GRCm39) probably null Het
B4galt4 T A 16: 38,574,302 (GRCm39) F92Y probably damaging Het
Brwd1 C T 16: 95,837,159 (GRCm39) R891Q probably damaging Het
Calcr T C 6: 3,687,612 (GRCm39) Q462R probably benign Het
Ccdc112 T C 18: 46,420,698 (GRCm39) R351G probably damaging Het
Ccdc80 T G 16: 44,917,073 (GRCm39) S610A probably benign Het
Cdh20 C A 1: 104,881,796 (GRCm39) N420K possibly damaging Het
Cntn3 G A 6: 102,255,383 (GRCm39) R172* probably null Het
Ctnnd1 G T 2: 84,452,390 (GRCm39) Q78K possibly damaging Het
D16Ertd472e A T 16: 78,372,814 (GRCm39) L41H probably damaging Het
Dclk2 A T 3: 86,706,909 (GRCm39) probably null Het
Dmwd C T 7: 18,814,234 (GRCm39) H295Y probably benign Het
Dnai2 T C 11: 114,647,988 (GRCm39) V588A unknown Het
Dnai4 T G 4: 102,923,549 (GRCm39) I427L probably benign Het
Dtx4 C T 19: 12,459,437 (GRCm39) probably null Het
Dync2h1 C A 9: 7,141,059 (GRCm39) D1323Y probably damaging Het
Fcgbp T A 7: 27,803,446 (GRCm39) H1683Q probably benign Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Gm9195 A G 14: 72,689,192 (GRCm39) S1876P possibly damaging Het
Grhl2 A C 15: 37,335,980 (GRCm39) K431T probably damaging Het
Grm7 T G 6: 111,335,530 (GRCm39) I647S possibly damaging Het
Gtf2ird1 T C 5: 134,439,948 (GRCm39) N94S probably benign Het
Gvin2 A C 7: 105,551,386 (GRCm39) S555R possibly damaging Het
Hmgcs1 G T 13: 120,162,620 (GRCm39) G195W probably damaging Het
Hrc A T 7: 44,985,989 (GRCm39) Y380F possibly damaging Het
Kcnu1 C T 8: 26,409,665 (GRCm39) Q863* probably null Het
Lemd2 G A 17: 27,415,165 (GRCm39) P300L probably damaging Het
Lnpep A T 17: 17,773,172 (GRCm39) Y665* probably null Het
Lrfn1 A G 7: 28,166,564 (GRCm39) T653A probably benign Het
Ly6g6c A G 17: 35,286,387 (GRCm39) T8A unknown Het
Mcm5 T C 8: 75,848,344 (GRCm39) probably null Het
Med28 A T 5: 45,680,794 (GRCm39) D86V probably damaging Het
Mup11 A G 4: 60,615,725 (GRCm39) S171P possibly damaging Het
Nckap1 A G 2: 80,370,542 (GRCm39) F383L probably benign Het
Nid1 G C 13: 13,642,970 (GRCm39) G303R probably benign Het
Nkain3 A G 4: 20,282,892 (GRCm39) V147A probably benign Het
Or12k8 A G 2: 36,975,670 (GRCm39) V30A probably benign Het
Pde9a G A 17: 31,639,258 (GRCm39) V63I possibly damaging Het
Pdlim2 T A 14: 70,411,826 (GRCm39) I69F probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phf20l1 T C 15: 66,476,638 (GRCm39) I245T probably benign Het
Prmt8 C T 6: 127,666,792 (GRCm39) R394H possibly damaging Het
Prorp A G 12: 55,355,430 (GRCm39) probably null Het
Prpf4b T A 13: 35,067,994 (GRCm39) D274E unknown Het
Psmd6 A T 14: 14,112,225 (GRCm38) probably null Het
Rgs16 T C 1: 153,617,416 (GRCm39) L69P probably damaging Het
Robo3 A T 9: 37,336,020 (GRCm39) I482N probably damaging Het
Scara3 C T 14: 66,168,715 (GRCm39) V301I possibly damaging Het
Serpina1b T A 12: 103,694,553 (GRCm39) H397L probably benign Het
Skint11 T A 4: 114,088,944 (GRCm39) L246Q probably damaging Het
Skint5 T A 4: 113,396,536 (GRCm39) R1212S unknown Het
Slc11a2 T C 15: 100,300,213 (GRCm39) D348G probably benign Het
Slc15a2 T C 16: 36,576,643 (GRCm39) K495E probably benign Het
Son T G 16: 91,458,990 (GRCm39) D2072E unknown Het
Stau1 A G 2: 166,805,494 (GRCm39) V34A probably damaging Het
Stk3 G T 15: 35,073,262 (GRCm39) L153I possibly damaging Het
Swi5 A T 2: 32,177,922 (GRCm39) V13E probably benign Het
Syne2 A T 12: 76,078,172 (GRCm39) probably null Het
Synm T C 7: 67,384,663 (GRCm39) M558V probably benign Het
Tep1 T A 14: 51,062,013 (GRCm39) probably null Het
Tmc6 A G 11: 117,667,151 (GRCm39) V149A probably benign Het
Tmem214 T A 5: 31,028,065 (GRCm39) V95E possibly damaging Het
Tnnt2 T A 1: 135,778,114 (GRCm39) probably null Het
Txlna A G 4: 129,525,071 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,038,948 (GRCm39) I841T probably damaging Het
Wasf2 G A 4: 132,923,045 (GRCm39) V452I probably damaging Het
Wdr62 C T 7: 29,951,761 (GRCm39) D673N probably damaging Het
Wdr95 C T 5: 149,518,836 (GRCm39) T559I probably benign Het
Zbtb40 A T 4: 136,726,937 (GRCm39) probably null Het
Zfat T C 15: 68,051,856 (GRCm39) E646G probably benign Het
Other mutations in Acot12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Acot12 APN 13 91,929,330 (GRCm39) nonsense probably null
IGL01114:Acot12 APN 13 91,905,711 (GRCm39) splice site probably benign
IGL01376:Acot12 APN 13 91,932,790 (GRCm39) missense probably damaging 0.98
IGL01474:Acot12 APN 13 91,920,902 (GRCm39) missense possibly damaging 0.53
IGL02206:Acot12 APN 13 91,908,106 (GRCm39) missense probably damaging 1.00
IGL02999:Acot12 APN 13 91,908,100 (GRCm39) missense probably damaging 0.97
IGL03237:Acot12 APN 13 91,929,388 (GRCm39) missense probably benign 0.26
R0071:Acot12 UTSW 13 91,929,293 (GRCm39) splice site probably benign
R0092:Acot12 UTSW 13 91,889,684 (GRCm39) missense probably damaging 1.00
R0141:Acot12 UTSW 13 91,919,947 (GRCm39) missense probably benign 0.02
R0331:Acot12 UTSW 13 91,908,183 (GRCm39) critical splice donor site probably null
R0525:Acot12 UTSW 13 91,908,186 (GRCm39) splice site probably benign
R0544:Acot12 UTSW 13 91,932,775 (GRCm39) missense probably benign 0.02
R1509:Acot12 UTSW 13 91,919,994 (GRCm39) critical splice donor site probably null
R1616:Acot12 UTSW 13 91,920,886 (GRCm39) missense probably benign 0.02
R1773:Acot12 UTSW 13 91,905,676 (GRCm39) missense probably benign 0.27
R1897:Acot12 UTSW 13 91,932,516 (GRCm39) missense probably benign
R2047:Acot12 UTSW 13 91,931,122 (GRCm39) missense probably damaging 1.00
R2102:Acot12 UTSW 13 91,908,096 (GRCm39) missense probably benign 0.00
R3730:Acot12 UTSW 13 91,908,145 (GRCm39) missense possibly damaging 0.61
R3735:Acot12 UTSW 13 91,932,465 (GRCm39) missense probably benign
R3736:Acot12 UTSW 13 91,932,465 (GRCm39) missense probably benign
R3912:Acot12 UTSW 13 91,918,208 (GRCm39) missense probably benign 0.01
R4156:Acot12 UTSW 13 91,932,882 (GRCm39) missense probably benign 0.00
R4418:Acot12 UTSW 13 91,932,524 (GRCm39) missense possibly damaging 0.46
R4879:Acot12 UTSW 13 91,911,083 (GRCm39) missense probably benign 0.17
R5456:Acot12 UTSW 13 91,889,759 (GRCm39) missense probably damaging 1.00
R5498:Acot12 UTSW 13 91,929,352 (GRCm39) missense probably damaging 1.00
R5601:Acot12 UTSW 13 91,931,029 (GRCm39) missense probably benign 0.10
R5998:Acot12 UTSW 13 91,905,653 (GRCm39) missense possibly damaging 0.49
R6781:Acot12 UTSW 13 91,932,531 (GRCm39) splice site probably null
R7330:Acot12 UTSW 13 91,889,651 (GRCm39) start codon destroyed probably null 0.89
R7560:Acot12 UTSW 13 91,932,510 (GRCm39) missense probably benign
R7561:Acot12 UTSW 13 91,918,243 (GRCm39) missense probably damaging 0.96
R7869:Acot12 UTSW 13 91,919,844 (GRCm39) missense probably benign 0.12
R9377:Acot12 UTSW 13 91,918,221 (GRCm39) missense probably benign 0.00
R9411:Acot12 UTSW 13 91,919,919 (GRCm39) missense probably damaging 1.00
R9542:Acot12 UTSW 13 91,931,110 (GRCm39) missense probably damaging 1.00
X0050:Acot12 UTSW 13 91,919,956 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACCACATAGATGCCTTACTTG -3'
(R):5'- CACCATGTATCAAGCAGTGGAG -3'

Sequencing Primer
(F):5'- GCAAGGATGTATGACTGCCCATTC -3'
(R):5'- CCATGTATCAAGCAGTGGAGAACTAC -3'
Posted On 2019-06-26