Incidental Mutation 'R2307:Acot5'
ID 244648
Institutional Source Beutler Lab
Gene Symbol Acot5
Ensembl Gene ENSMUSG00000042540
Gene Name acyl-CoA thioesterase 5
Synonyms PTE-Ic
MMRRC Submission 040306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2307 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84116099-84122794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84122375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 320 (F320L)
Ref Sequence ENSEMBL: ENSMUSP00000042019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046422] [ENSMUST00000072505]
AlphaFold Q6Q2Z6
Predicted Effect possibly damaging
Transcript: ENSMUST00000046422
AA Change: F320L

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: F320L

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 16 141 7.4e-44 PFAM
low complexity region 147 161 N/A INTRINSIC
Pfam:BAAT_C 203 412 3.5e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072505
SMART Domains Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 15 142 1.6e-42 PFAM
low complexity region 147 161 N/A INTRINSIC
Pfam:BAAT_C 203 313 1.4e-29 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e T C 11: 70,212,087 (GRCm39) K170R probably damaging Het
Ano2 T C 6: 125,969,849 (GRCm39) S722P probably benign Het
Cep192 A G 18: 67,946,970 (GRCm39) Y215C probably benign Het
Ces2g A G 8: 105,695,044 (GRCm39) N555S probably benign Het
Cfap58 C T 19: 47,950,925 (GRCm39) Q429* probably null Het
Clcnkb A G 4: 141,139,640 (GRCm39) S121P probably damaging Het
Cltb T A 13: 54,746,564 (GRCm39) E67D probably damaging Het
Ddhd1 A T 14: 45,846,447 (GRCm39) L581Q probably damaging Het
Dnajc3 T C 14: 119,190,633 (GRCm39) probably null Het
Fgf14 T A 14: 124,221,234 (GRCm39) N190I probably damaging Het
Galnt17 T G 5: 130,929,460 (GRCm39) Y449S probably damaging Het
Grin3a C T 4: 49,793,033 (GRCm39) probably null Het
Gxylt2 A G 6: 100,764,173 (GRCm39) N286S probably damaging Het
H2-K2 A G 17: 34,216,113 (GRCm39) V120A probably benign Het
Inpp5f T C 7: 128,296,034 (GRCm39) V168A probably damaging Het
Kif1a G T 1: 93,006,491 (GRCm39) H59N probably damaging Het
Krt24 T C 11: 99,175,456 (GRCm39) Q193R possibly damaging Het
Krtap5-4 C A 7: 141,857,351 (GRCm39) S7* probably null Het
Ltn1 A G 16: 87,229,312 (GRCm39) probably null Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mep1b A T 18: 21,221,632 (GRCm39) D194V probably damaging Het
Mettl25b A T 3: 87,834,162 (GRCm39) M171K possibly damaging Het
Orc3 C T 4: 34,586,503 (GRCm39) V382M probably damaging Het
Pclo T A 5: 14,728,665 (GRCm39) probably benign Het
Pcolce T C 5: 137,607,356 (GRCm39) H45R probably damaging Het
Prf1 T C 10: 61,138,942 (GRCm39) V300A possibly damaging Het
Prorp T C 12: 55,351,101 (GRCm39) F137L probably damaging Het
Prss53 T C 7: 127,490,037 (GRCm39) I18V probably benign Het
Rnase2b A G 14: 51,400,188 (GRCm39) T90A probably benign Het
Rpap1 G A 2: 119,614,247 (GRCm39) P50L probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec16b G A 1: 157,363,062 (GRCm39) V298I probably damaging Het
Smarcd3 C T 5: 24,800,746 (GRCm39) R156Q probably damaging Het
St6galnac2 C T 11: 116,572,731 (GRCm39) A242T probably damaging Het
Syce1l T C 8: 114,369,937 (GRCm39) probably null Het
Tcam1 T C 11: 106,174,940 (GRCm39) C132R probably damaging Het
Trpa1 T C 1: 14,982,605 (GRCm39) I84V probably benign Het
Ttn G A 2: 76,717,342 (GRCm39) R455* probably null Het
Ubl5 T A 9: 20,557,876 (GRCm39) probably benign Het
Ubr2 T A 17: 47,277,141 (GRCm39) K779* probably null Het
Ugt1a10 A G 1: 87,983,669 (GRCm39) I156V probably benign Het
Unc13b A G 4: 43,239,854 (GRCm39) T3513A probably damaging Het
Vmn1r20 C T 6: 57,409,121 (GRCm39) T149I probably benign Het
Zfp804a T A 2: 82,087,201 (GRCm39) D343E probably benign Het
Other mutations in Acot5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Acot5 APN 12 84,122,262 (GRCm39) missense probably benign 0.01
IGL01978:Acot5 APN 12 84,122,172 (GRCm39) missense possibly damaging 0.90
IGL03175:Acot5 APN 12 84,122,103 (GRCm39) missense probably damaging 1.00
R0840:Acot5 UTSW 12 84,122,614 (GRCm39) nonsense probably null
R1720:Acot5 UTSW 12 84,122,655 (GRCm39) missense probably benign
R1735:Acot5 UTSW 12 84,122,261 (GRCm39) missense probably benign 0.38
R2258:Acot5 UTSW 12 84,122,643 (GRCm39) missense possibly damaging 0.94
R2260:Acot5 UTSW 12 84,122,643 (GRCm39) missense possibly damaging 0.94
R2655:Acot5 UTSW 12 84,122,650 (GRCm39) missense probably benign 0.00
R5291:Acot5 UTSW 12 84,120,293 (GRCm39) missense probably benign 0.04
R5302:Acot5 UTSW 12 84,120,215 (GRCm39) missense probably damaging 0.99
R5545:Acot5 UTSW 12 84,116,380 (GRCm39) missense possibly damaging 0.69
R5999:Acot5 UTSW 12 84,122,328 (GRCm39) missense probably benign 0.00
R6485:Acot5 UTSW 12 84,122,258 (GRCm39) missense probably damaging 1.00
R7554:Acot5 UTSW 12 84,120,254 (GRCm39) missense probably damaging 1.00
R7663:Acot5 UTSW 12 84,116,355 (GRCm39) missense probably damaging 0.97
R7833:Acot5 UTSW 12 84,122,601 (GRCm39) missense probably damaging 1.00
R9005:Acot5 UTSW 12 84,116,630 (GRCm39) missense
Z1177:Acot5 UTSW 12 84,116,668 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- CGCTGTCGTAATCAATGGCG -3'
(R):5'- GAGGATAGGCTTATCAAAATAGCTGTG -3'

Sequencing Primer
(F):5'- TAATCAATGGCGCCACGGTC -3'
(R):5'- AATCTGGGGCTTCTCCTT -3'
Posted On 2014-10-30