Incidental Mutation 'R6938:Acot7'
ID 540374
Institutional Source Beutler Lab
Gene Symbol Acot7
Ensembl Gene ENSMUSG00000028937
Gene Name acyl-CoA thioesterase 7
Synonyms 2410041A17Rik, Bach, AU014716
MMRRC Submission 045052-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6938 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 152262591-152356312 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 152302351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030779] [ENSMUST00000075363] [ENSMUST00000105652] [ENSMUST00000167926]
AlphaFold Q91V12
Predicted Effect probably null
Transcript: ENSMUST00000030779
SMART Domains Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937

DomainStartEndE-ValueType
Pfam:4HBT 69 152 1e-16 PFAM
Pfam:4HBT 243 318 4.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000075363
SMART Domains Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937

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 probably null
Transcript: ENSMUST00000105652
SMART Domains Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937

DomainStartEndE-ValueType
Pfam:4HBT 38 121 1.1e-16 PFAM
Pfam:4HBT 212 287 4.4e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167926
SMART Domains Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937

DomainStartEndE-ValueType
Pfam:4HBT 72 155 2.3e-17 PFAM
Pfam:4HBT 246 320 1.2e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,082,949 (GRCm39) M320T probably benign Het
Adam22 A T 5: 8,196,499 (GRCm39) Y259N probably benign Het
Akap9 C A 5: 4,096,628 (GRCm39) A2501D possibly damaging Het
Angpt2 G T 8: 18,748,105 (GRCm39) S385* probably null Het
Asxl2 G C 12: 3,526,149 (GRCm39) R255T probably damaging Het
Btg3 T C 16: 78,157,216 (GRCm39) I244V probably benign Het
Casr T C 16: 36,316,283 (GRCm39) T596A probably damaging Het
Ccl1 A T 11: 82,067,684 (GRCm39) V82D probably damaging Het
Col18a1 T A 10: 76,948,333 (GRCm39) probably benign Het
Crybg1 T C 10: 43,873,379 (GRCm39) D1243G probably benign Het
Dnaaf9 A C 2: 130,617,673 (GRCm39) H297Q probably benign Het
Drc3 A T 11: 60,284,949 (GRCm39) probably null Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gbp4 T C 5: 105,282,943 (GRCm39) D109G probably damaging Het
Gstz1 A G 12: 87,193,943 (GRCm39) probably null Het
Kctd10 C A 5: 114,508,191 (GRCm39) E106* probably null Het
Kctd20 G A 17: 29,180,555 (GRCm39) G110S probably benign Het
Klk1b26 A T 7: 43,665,718 (GRCm39) T177S probably benign Het
Kyat3 T A 3: 142,431,183 (GRCm39) V118E probably damaging Het
Maml3 T C 3: 52,011,159 (GRCm39) K136E probably damaging Het
Mex3d T C 10: 80,218,074 (GRCm39) N381S possibly damaging Het
Mmrn2 A T 14: 34,120,671 (GRCm39) T514S probably benign Het
Nlrp1b G A 11: 71,109,042 (GRCm39) A153V probably damaging Het
Or13e8 C T 4: 43,696,286 (GRCm39) V296M probably damaging Het
Pcolce T C 5: 137,603,878 (GRCm39) T365A probably benign Het
Plbd1 T C 6: 136,593,985 (GRCm39) I377V probably benign Het
Plk2 T A 13: 110,533,214 (GRCm39) Y192* probably null Het
Rev3l T A 10: 39,738,706 (GRCm39) V2820D probably damaging Het
Secisbp2l G T 2: 125,592,272 (GRCm39) P650T probably damaging Het
Slc9a5 T C 8: 106,080,064 (GRCm39) L69P probably damaging Het
Sp9 T C 2: 73,103,616 (GRCm39) C57R probably damaging Het
Tbl3 A T 17: 24,924,187 (GRCm39) V190D possibly damaging Het
Timm8b A G 9: 50,516,294 (GRCm39) D49G possibly damaging Het
Tmem231 T C 8: 112,660,144 (GRCm39) S53G probably damaging Het
Topbp1 T A 9: 103,205,753 (GRCm39) V797D probably damaging Het
Trip11 A T 12: 101,803,886 (GRCm39) D1665E probably damaging Het
Txk C A 5: 72,856,492 (GRCm39) R433L probably damaging Het
Vmn1r19 T C 6: 57,381,992 (GRCm39) S182P possibly damaging Het
Vps13b T G 15: 35,423,344 (GRCm39) I221M probably damaging Het
Xpo7 T C 14: 70,903,464 (GRCm39) N1082D probably benign Het
Other mutations in Acot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Acot7 APN 4 152,345,353 (GRCm39) missense probably benign 0.39
IGL01758:Acot7 APN 4 152,302,250 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- CATAAGGACTTGCTGGGCTG -3'
(R):5'- TGTTGCCACAGTCAGCTTCG -3'

Sequencing Primer
(F):5'- CTGGACTGGGCTGATGGC -3'
(R):5'- AGGGAGCCTGTAAACTGCATTCC -3'
Posted On 2018-11-06