Incidental Mutation 'IGL01758:Acot7'
ID 153469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot7
Ensembl Gene ENSMUSG00000028937
Gene Name acyl-CoA thioesterase 7
Synonyms 2410041A17Rik, Bach, AU014716
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01758
Quality Score
Status
Chromosome 4
Chromosomal Location 152262591-152356312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152302250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 121 (C121R)
Ref Sequence ENSEMBL: ENSMUSP00000129121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030779] [ENSMUST00000075363] [ENSMUST00000105652] [ENSMUST00000167926]
AlphaFold Q91V12
Predicted Effect probably damaging
Transcript: ENSMUST00000030779
AA Change: C118R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: C118R

DomainStartEndE-ValueType
Pfam:4HBT 69 152 1e-16 PFAM
Pfam:4HBT 243 318 4.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000075363
AA Change: C116R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: C116R

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 30 36 N/A INTRINSIC
Pfam:4HBT 67 150 1.2e-16 PFAM
Pfam:4HBT 241 316 5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105652
AA Change: C87R

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: C87R

DomainStartEndE-ValueType
Pfam:4HBT 38 121 1.1e-16 PFAM
Pfam:4HBT 212 287 4.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144733
Predicted Effect probably damaging
Transcript: ENSMUST00000167926
AA Change: C121R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: C121R

DomainStartEndE-ValueType
Pfam:4HBT 72 155 2.3e-17 PFAM
Pfam:4HBT 246 320 1.2e-19 PFAM
Meta Mutation Damage Score 0.0976 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele activated in neurons exhibit abnormal glucose and lipid homeostasis, altered metabolism, increaased adiposity, decreased lean mass, progressive neurodegeneration, and neurological defects in aged mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,645 (GRCm39) D860G possibly damaging Het
Adam19 A T 11: 46,003,751 (GRCm39) H193L probably benign Het
AI661453 T A 17: 47,777,548 (GRCm39) probably benign Het
Bod1l T C 5: 41,983,953 (GRCm39) probably benign Het
Brd4 T C 17: 32,431,803 (GRCm39) probably benign Het
Capn12 G A 7: 28,586,048 (GRCm39) probably null Het
Cdh18 A G 15: 23,474,269 (GRCm39) Q713R probably benign Het
Cfap52 A T 11: 67,844,406 (GRCm39) L103Q possibly damaging Het
Dpy19l4 T A 4: 11,265,846 (GRCm39) T475S probably damaging Het
Dync2i1 G A 12: 116,182,418 (GRCm39) P728L possibly damaging Het
Fat2 A T 11: 55,187,035 (GRCm39) D1270E probably damaging Het
Hfm1 T C 5: 107,052,659 (GRCm39) K275E probably damaging Het
Ift172 T C 5: 31,438,058 (GRCm39) D426G probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Or13f5 G T 4: 52,825,468 (GRCm39) E24* probably null Het
Or8b50 T A 9: 38,518,589 (GRCm39) I276K probably damaging Het
Ptgs2 A T 1: 149,977,740 (GRCm39) probably null Het
Rxfp1 T A 3: 79,559,523 (GRCm39) I433F possibly damaging Het
Sbf1 C T 15: 89,187,418 (GRCm39) probably benign Het
Serpinb13 T G 1: 106,928,484 (GRCm39) F368C probably damaging Het
Slc9c1 T A 16: 45,361,824 (GRCm39) S80R probably damaging Het
Spats2l G T 1: 57,918,715 (GRCm39) V30L probably damaging Het
Stat1 A G 1: 52,176,080 (GRCm39) E195G probably damaging Het
Tbx5 T A 5: 119,983,023 (GRCm39) probably benign Het
Tmem165 A G 5: 76,352,010 (GRCm39) T164A probably damaging Het
Trim66 A T 7: 109,085,252 (GRCm39) probably null Het
Trip10 T A 17: 57,568,409 (GRCm39) V405E possibly damaging Het
Vmn2r92 T A 17: 18,372,275 (GRCm39) C28* probably null Het
Zbtb8a C T 4: 129,251,640 (GRCm39) C277Y probably damaging Het
Zfp638 T C 6: 83,956,508 (GRCm39) F1705S probably damaging Het
Other mutations in Acot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Acot7 APN 4 152,345,353 (GRCm39) missense probably benign 0.39
IGL01991:Acot7 APN 4 152,307,536 (GRCm39) missense possibly damaging 0.84
R1329:Acot7 UTSW 4 152,314,241 (GRCm39) nonsense probably null
R1605:Acot7 UTSW 4 152,291,285 (GRCm39) missense possibly damaging 0.46
R1625:Acot7 UTSW 4 152,270,748 (GRCm39) missense probably benign 0.01
R1739:Acot7 UTSW 4 152,345,369 (GRCm39) missense probably damaging 1.00
R4169:Acot7 UTSW 4 152,302,250 (GRCm39) missense probably damaging 0.96
R4473:Acot7 UTSW 4 152,291,313 (GRCm39) missense probably damaging 1.00
R4857:Acot7 UTSW 4 152,322,211 (GRCm39) missense possibly damaging 0.76
R4884:Acot7 UTSW 4 152,270,664 (GRCm39) intron probably benign
R5000:Acot7 UTSW 4 152,270,820 (GRCm39) missense probably benign 0.00
R6123:Acot7 UTSW 4 152,284,402 (GRCm39) missense probably benign
R6633:Acot7 UTSW 4 152,262,716 (GRCm39) missense probably benign
R6938:Acot7 UTSW 4 152,302,351 (GRCm39) critical splice donor site probably null
R7025:Acot7 UTSW 4 152,262,646 (GRCm39) missense unknown
R7813:Acot7 UTSW 4 152,307,575 (GRCm39) missense probably damaging 1.00
R8035:Acot7 UTSW 4 152,337,611 (GRCm39) missense possibly damaging 0.75
R8793:Acot7 UTSW 4 152,284,380 (GRCm39) missense probably benign
R8803:Acot7 UTSW 4 152,302,272 (GRCm39) missense probably damaging 1.00
R9288:Acot7 UTSW 4 152,291,263 (GRCm39) missense probably damaging 1.00
R9644:Acot7 UTSW 4 152,270,752 (GRCm39) nonsense probably null
R9734:Acot7 UTSW 4 152,345,474 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04