Incidental Mutation 'IGL01978:Acot5'
ID 181773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot5
Ensembl Gene ENSMUSG00000042540
Gene Name acyl-CoA thioesterase 5
Synonyms PTE-Ic
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01978
Quality Score
Status
Chromosome 12
Chromosomal Location 84116099-84122794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84122172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 252 (V252A)
Ref Sequence ENSEMBL: ENSMUSP00000072322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046422] [ENSMUST00000072505]
AlphaFold Q6Q2Z6
Predicted Effect possibly damaging
Transcript: ENSMUST00000046422
AA Change: V252A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: V252A

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 possibly damaging
Transcript: ENSMUST00000072505
AA Change: V252A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540
AA Change: V252A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,453,164 (GRCm39) T6S probably damaging Het
Bmper A T 9: 23,292,737 (GRCm39) N349Y probably damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Col9a2 G A 4: 120,901,863 (GRCm39) G139E unknown Het
Cplane1 A T 15: 8,248,866 (GRCm39) N1805I probably damaging Het
Cyp2j8 A C 4: 96,392,246 (GRCm39) probably null Het
Dcbld2 A G 16: 58,284,682 (GRCm39) D612G probably benign Het
Dsc3 C T 18: 20,107,253 (GRCm39) R456Q possibly damaging Het
Fat2 T C 11: 55,160,972 (GRCm39) T3253A probably benign Het
Hoxc12 T A 15: 102,845,299 (GRCm39) H4Q probably damaging Het
Il6st A G 13: 112,633,891 (GRCm39) E445G possibly damaging Het
Ipo8 T C 6: 148,678,787 (GRCm39) E937G probably benign Het
Kif5a A C 10: 127,081,608 (GRCm39) D185E probably benign Het
Klhl38 T C 15: 58,178,485 (GRCm39) D495G probably damaging Het
Klra5 A G 6: 129,888,393 (GRCm39) V11A probably benign Het
Lrch1 G A 14: 75,023,782 (GRCm39) T581M probably damaging Het
Mecom A G 3: 30,017,315 (GRCm39) I450T probably damaging Het
Mrgprb2 C A 7: 48,202,312 (GRCm39) V138L probably damaging Het
Muc15 G A 2: 110,561,941 (GRCm39) A126T probably benign Het
Mybpc1 A T 10: 88,367,632 (GRCm39) I522K probably damaging Het
Nectin1 G A 9: 43,703,444 (GRCm39) R234H probably damaging Het
Or5b98 T C 19: 12,931,406 (GRCm39) F151S probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Pdia6 T A 12: 17,324,423 (GRCm39) H91Q possibly damaging Het
Pfkfb4 A T 9: 108,858,010 (GRCm39) H445L probably damaging Het
Pkd1l1 T C 11: 8,911,336 (GRCm39) T314A unknown Het
Rb1cc1 A G 1: 6,308,592 (GRCm39) D159G probably damaging Het
Rhoh T A 5: 66,050,031 (GRCm39) S100R probably benign Het
Rsbn1 T A 3: 103,868,816 (GRCm39) D618E probably damaging Het
Slc25a47 T C 12: 108,817,116 (GRCm39) V4A probably damaging Het
Svs3b T A 2: 164,098,541 (GRCm39) M1L probably benign Het
Thsd7a T C 6: 12,331,005 (GRCm39) N1379S probably benign Het
Tmed3 T C 9: 89,586,806 (GRCm39) D58G probably benign Het
Trh G A 6: 92,219,596 (GRCm39) A240V probably benign Het
Ubox5 A T 2: 130,442,372 (GRCm39) V105E probably benign Het
Vmn2r67 A G 7: 84,800,649 (GRCm39) probably null Het
Vps13c A G 9: 67,837,925 (GRCm39) H1825R probably benign Het
Wasf1 C A 10: 40,812,197 (GRCm39) P329T unknown Het
Wee2 T C 6: 40,432,087 (GRCm39) F219L probably damaging Het
Zp3r T C 1: 130,526,678 (GRCm39) D175G probably damaging Het
Other mutations in Acot5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Acot5 APN 12 84,122,262 (GRCm39) missense probably benign 0.01
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
R2307:Acot5 UTSW 12 84,122,375 (GRCm39) missense possibly damaging 0.90
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
Posted On 2014-05-07