Incidental Mutation 'R2904:Acot4'
ID 261591
Institutional Source Beutler Lab
Gene Symbol Acot4
Ensembl Gene ENSMUSG00000052392
Gene Name acyl-CoA thioesterase 4
Synonyms PTE-Ib, Pte2b, B430212I04Rik
MMRRC Submission 040491-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2904 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84084028-84091497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 84090377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 358 (T358S)
Ref Sequence ENSEMBL: ENSMUSP00000021652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021652]
AlphaFold Q8BWN8
Predicted Effect probably benign
Transcript: ENSMUST00000021652
AA Change: T358S

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021652
Gene: ENSMUSG00000052392
AA Change: T358S

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 16 141 3.4e-43 PFAM
low complexity region 148 159 N/A INTRINSIC
Pfam:Abhydrolase_5 162 361 1e-6 PFAM
Pfam:FSH1 193 364 3.5e-5 PFAM
Pfam:BAAT_C 203 412 1.1e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180751
Predicted Effect probably benign
Transcript: ENSMUST00000221229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221860
Meta Mutation Damage Score 0.3883 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 T C 5: 100,957,673 (GRCm39) E182G probably benign Het
Ap2a2 A G 7: 141,199,391 (GRCm39) K433E probably damaging Het
Card11 T A 5: 140,874,888 (GRCm39) D592V probably benign Het
Col12a1 G T 9: 79,559,307 (GRCm39) S1860R probably damaging Het
Crisp1 C T 17: 40,623,895 (GRCm39) probably null Het
Dzip1l A G 9: 99,545,722 (GRCm39) E657G probably damaging Het
Gak T C 5: 108,772,080 (GRCm39) N79S possibly damaging Het
Gm9791 T C 3: 34,059,336 (GRCm39) noncoding transcript Het
Gmpr2 T C 14: 55,910,215 (GRCm39) V15A probably damaging Het
Hectd4 T C 5: 121,430,787 (GRCm39) probably benign Het
Ift56 T C 6: 38,378,037 (GRCm39) V283A possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kdm4b G A 17: 56,662,884 (GRCm39) G152S probably benign Het
Kdm6b G A 11: 69,296,611 (GRCm39) T552I possibly damaging Het
Kdr T C 5: 76,127,069 (GRCm39) Y307C probably damaging Het
Kif11 T C 19: 37,392,103 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Madd C T 2: 91,006,017 (GRCm39) V20M probably damaging Het
Mkrn3 C A 7: 62,068,207 (GRCm39) R528L probably benign Het
Myom2 T C 8: 15,148,348 (GRCm39) V508A probably benign Het
Nav1 T C 1: 135,512,976 (GRCm39) D28G probably benign Het
Nlrp4b T A 7: 10,448,294 (GRCm39) W166R probably damaging Het
Or14j2 A T 17: 37,885,705 (GRCm39) L203Q possibly damaging Het
Or5p59 T C 7: 107,702,806 (GRCm39) Y97H probably benign Het
Rassf10 A T 7: 112,553,756 (GRCm39) D119V possibly damaging Het
Smarcc1 A G 9: 110,003,043 (GRCm39) N378D possibly damaging Het
Tas2r118 A G 6: 23,969,801 (GRCm39) F87L possibly damaging Het
Tasor2 T C 13: 3,632,185 (GRCm39) N772S possibly damaging Het
Trim21 A G 7: 102,209,178 (GRCm39) W282R probably benign Het
Uggt2 T A 14: 119,296,521 (GRCm39) Y447F possibly damaging Het
Zfp160 G A 17: 21,245,911 (GRCm39) V154I probably benign Het
Other mutations in Acot4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02255:Acot4 APN 12 84,088,799 (GRCm39) missense probably damaging 0.98
IGL02806:Acot4 APN 12 84,088,737 (GRCm39) missense probably damaging 1.00
IGL02967:Acot4 APN 12 84,090,235 (GRCm39) missense probably benign
R1827:Acot4 UTSW 12 84,088,712 (GRCm39) missense probably damaging 1.00
R2105:Acot4 UTSW 12 84,085,516 (GRCm39) missense probably damaging 1.00
R2509:Acot4 UTSW 12 84,088,647 (GRCm39) missense probably damaging 1.00
R3859:Acot4 UTSW 12 84,090,218 (GRCm39) missense probably benign 0.17
R3904:Acot4 UTSW 12 84,090,101 (GRCm39) splice site probably null
R4190:Acot4 UTSW 12 84,089,948 (GRCm39) intron probably benign
R4192:Acot4 UTSW 12 84,089,948 (GRCm39) intron probably benign
R4541:Acot4 UTSW 12 84,090,022 (GRCm39) missense probably benign 0.38
R5061:Acot4 UTSW 12 84,085,475 (GRCm39) missense probably benign 0.03
R5682:Acot4 UTSW 12 84,085,576 (GRCm39) missense probably damaging 1.00
R5864:Acot4 UTSW 12 84,090,178 (GRCm39) missense probably benign 0.04
R6818:Acot4 UTSW 12 84,088,783 (GRCm39) missense probably damaging 1.00
R7699:Acot4 UTSW 12 84,090,011 (GRCm39) missense probably damaging 1.00
R7700:Acot4 UTSW 12 84,090,011 (GRCm39) missense probably damaging 1.00
R8260:Acot4 UTSW 12 84,088,809 (GRCm39) missense possibly damaging 0.94
R8974:Acot4 UTSW 12 84,090,515 (GRCm39) missense probably benign
R9003:Acot4 UTSW 12 84,089,969 (GRCm39) missense possibly damaging 0.84
R9246:Acot4 UTSW 12 84,090,097 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTAGGAGGCTGTGAGAACC -3'
(R):5'- AATCTACCATGTCTGTTACAGGC -3'

Sequencing Primer
(F):5'- CTGTGAGAACCCCAGCATG -3'
(R):5'- ACTACAGTCTACAGGAGGCTCTG -3'
Posted On 2015-01-23