Incidental Mutation 'IGL01991:Acot7'
ID182860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot7
Ensembl Gene ENSMUSG00000028937
Gene Nameacyl-CoA thioesterase 7
Synonyms2410041A17Rik, Bach, AU014716
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL01991
Quality Score
Status
Chromosome4
Chromosomal Location152178134-152271855 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 152223079 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 152 (K152E)
Ref Sequence ENSEMBL: ENSMUSP00000074827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030779] [ENSMUST00000075363] [ENSMUST00000105652] [ENSMUST00000167926]
Predicted Effect probably benign
Transcript: ENSMUST00000030779
AA Change: K154E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: K154E

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: K152E

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: K152E

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 benign
Transcript: ENSMUST00000105652
AA Change: K123E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: K123E

DomainStartEndE-ValueType
Pfam:4HBT 38 121 1.1e-16 PFAM
Pfam:4HBT 212 287 4.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167926
AA Change: K157E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: K157E

DomainStartEndE-ValueType
Pfam:4HBT 72 155 2.3e-17 PFAM
Pfam:4HBT 246 320 1.2e-19 PFAM
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,953,110 F145I probably benign Het
Adamts13 G T 2: 26,990,598 G731V probably damaging Het
Als2cl C T 9: 110,892,917 R584C probably benign Het
Apba1 T A 19: 23,937,472 S679T possibly damaging Het
Asxl3 G A 18: 22,516,162 V403I probably damaging Het
Card11 T C 5: 140,913,378 T14A possibly damaging Het
Creb1 T C 1: 64,559,754 F97L probably benign Het
Crispld1 T A 1: 17,753,017 H407Q probably benign Het
Crtac1 A T 19: 42,414,121 L16Q possibly damaging Het
Cyp2c29 T C 19: 39,330,315 I452T probably damaging Het
Dennd5b A T 6: 149,080,824 D95E probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Gm6878 G A 14: 67,306,229 probably benign Het
Gm7682 A T 5: 94,445,846 Q10L probably benign Het
Greb1 T C 12: 16,699,681 Y1048C probably damaging Het
Iqcc T A 4: 129,617,789 E105V probably benign Het
Lhx8 A G 3: 154,324,554 L116P probably damaging Het
Lrrk2 A G 15: 91,779,946 D1962G probably damaging Het
Map1b T A 13: 99,429,569 M2215L unknown Het
Mapk8ip3 A T 17: 24,927,861 L136Q possibly damaging Het
Mical3 T C 6: 120,935,211 N1896D probably damaging Het
Mprip A G 11: 59,755,012 E674G probably damaging Het
Olfr1045 T C 2: 86,198,533 N73S probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdzrn4 T A 15: 92,401,926 probably null Het
Prom1 T C 5: 44,047,506 T209A probably benign Het
Prom2 C A 2: 127,529,222 C785F probably damaging Het
Psg20 T C 7: 18,684,425 Q139R probably benign Het
Rapgef6 T A 11: 54,552,869 C93S probably benign Het
Rassf2 C T 2: 132,000,432 probably null Het
Scn11a A G 9: 119,819,904 I31T probably damaging Het
Slc4a5 A T 6: 83,263,543 D164V possibly damaging Het
Slco3a1 T C 7: 74,284,396 D676G possibly damaging Het
Tmcc2 T C 1: 132,361,092 I208V probably benign Het
Traf4 T C 11: 78,160,046 D428G possibly damaging Het
Trio T C 15: 27,871,274 I586V possibly damaging Het
Unc80 T A 1: 66,469,509 C46* probably null Het
Vmn2r89 A G 14: 51,452,219 N60D probably benign Het
Wscd1 A T 11: 71,787,723 K391* probably null Het
Wwc2 A T 8: 47,869,866 L400* probably null Het
Other mutations in Acot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Acot7 APN 4 152260896 missense probably benign 0.39
IGL01758:Acot7 APN 4 152217793 missense probably damaging 0.96
R1329:Acot7 UTSW 4 152229784 nonsense probably null
R1605:Acot7 UTSW 4 152206828 missense possibly damaging 0.46
R1625:Acot7 UTSW 4 152186291 missense probably benign 0.01
R1739:Acot7 UTSW 4 152260912 missense probably damaging 1.00
R4169:Acot7 UTSW 4 152217793 missense probably damaging 0.96
R4473:Acot7 UTSW 4 152206856 missense probably damaging 1.00
R4857:Acot7 UTSW 4 152237754 missense possibly damaging 0.76
R4884:Acot7 UTSW 4 152186207 intron probably benign
R5000:Acot7 UTSW 4 152186363 missense probably benign 0.00
R6123:Acot7 UTSW 4 152199945 missense probably benign
R6633:Acot7 UTSW 4 152178259 missense probably benign
R6938:Acot7 UTSW 4 152217894 critical splice donor site probably null
R7025:Acot7 UTSW 4 152178189 missense unknown
Posted On2014-05-07