Incidental Mutation 'R8035:Acot7'
ID 618175
Institutional Source Beutler Lab
Gene Symbol Acot7
Ensembl Gene ENSMUSG00000028937
Gene Name acyl-CoA thioesterase 7
Synonyms 2410041A17Rik, Bach, AU014716
MMRRC Submission 067472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R8035 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 152262591-152356312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152337611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 254 (T254A)
Ref Sequence ENSEMBL: ENSMUSP00000129121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030779] [ENSMUST00000075363] [ENSMUST00000105652] [ENSMUST00000167926]
AlphaFold Q91V12
Predicted Effect possibly damaging
Transcript: ENSMUST00000030779
AA Change: T251A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: T251A

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: T249A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: T249A

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: T220A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: T220A

DomainStartEndE-ValueType
Pfam:4HBT 38 121 1.1e-16 PFAM
Pfam:4HBT 212 287 4.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167926
AA Change: T254A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: T254A

DomainStartEndE-ValueType
Pfam:4HBT 72 155 2.3e-17 PFAM
Pfam:4HBT 246 320 1.2e-19 PFAM
Meta Mutation Damage Score 0.1106 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,530,243 (GRCm39) V938A probably damaging Het
Ankle2 C T 5: 110,402,318 (GRCm39) R943C probably damaging Het
Arrdc2 T C 8: 71,292,026 (GRCm39) K7R probably benign Het
Arsi T A 18: 61,049,442 (GRCm39) H108Q probably damaging Het
Asap3 T C 4: 135,968,514 (GRCm39) Y689H probably benign Het
Bnip3 G A 7: 138,493,666 (GRCm39) T181I probably damaging Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccdc168 A G 1: 44,100,711 (GRCm39) V129A possibly damaging Het
Ccdc6 A G 10: 69,933,331 (GRCm39) I68V probably benign Het
Ccr3 T C 9: 123,829,012 (GRCm39) F116L probably benign Het
Cdh9 G T 15: 16,831,152 (GRCm39) V330F probably damaging Het
Cdkn1a T C 17: 29,318,350 (GRCm39) C155R possibly damaging Het
Ctr9 C T 7: 110,633,664 (GRCm39) A165V probably damaging Het
Cyp2b19 G A 7: 26,470,675 (GRCm39) G439R probably damaging Het
Fam161b A T 12: 84,395,430 (GRCm39) D504E probably damaging Het
Fdps G T 3: 89,002,783 (GRCm39) P122T probably benign Het
Fmn2 T C 1: 174,547,437 (GRCm39) Y1454H probably damaging Het
Gipc2 T C 3: 151,799,866 (GRCm39) E288G probably damaging Het
Gm21411 A C 4: 146,982,167 (GRCm39) probably null Het
Hnrnpc C T 14: 52,321,719 (GRCm39) D32N possibly damaging Het
Hspa12b T A 2: 130,982,859 (GRCm39) I239N probably damaging Het
Hspb8 T C 5: 116,553,485 (GRCm39) N138D probably damaging Het
Igkv4-69 T C 6: 69,260,921 (GRCm39) I69V possibly damaging Het
Itih1 A C 14: 30,664,482 (GRCm39) D81E probably benign Het
Kdm3b T C 18: 34,941,781 (GRCm39) L624S probably damaging Het
Klk6 A G 7: 43,478,086 (GRCm39) M153V probably benign Het
Lgals9 A T 11: 78,854,302 (GRCm39) Y327* probably null Het
Lims1 T A 10: 58,246,263 (GRCm39) probably benign Het
Lrp1b T A 2: 40,750,667 (GRCm39) I3080F Het
Mars2 C T 1: 55,277,456 (GRCm39) T353I possibly damaging Het
Matn4 T C 2: 164,238,960 (GRCm39) N307S probably damaging Het
Mettl17 C T 14: 52,128,947 (GRCm39) H406Y probably damaging Het
Mtor T A 4: 148,630,856 (GRCm39) M2271K probably benign Het
Mtrex T C 13: 113,035,336 (GRCm39) E539G probably benign Het
Myt1 T C 2: 181,437,532 (GRCm39) L81P probably damaging Het
Or56a3b T A 7: 104,770,757 (GRCm39) L31H probably damaging Het
Or5b118 T C 19: 13,449,263 (GRCm39) F310L probably benign Het
Or6k4 A T 1: 173,964,490 (GRCm39) Y60F probably damaging Het
Or8b38 C T 9: 37,972,961 (GRCm39) T115I probably damaging Het
Pbrm1 A G 14: 30,806,109 (GRCm39) K1030R probably damaging Het
Rap1gds1 A T 3: 138,721,311 (GRCm39) D119E probably damaging Het
Rgs9 A G 11: 109,164,150 (GRCm39) I151T probably benign Het
Slc26a7 A C 4: 14,621,338 (GRCm39) M16R possibly damaging Het
Slx4ip T G 2: 136,885,945 (GRCm39) Y88* probably null Het
Sppl2c T A 11: 104,078,192 (GRCm39) W331R probably benign Het
Srcap T C 7: 127,141,784 (GRCm39) S1855P probably benign Het
Svs5 A G 2: 164,079,053 (GRCm39) F285L probably benign Het
Tjp1 G T 7: 64,992,450 (GRCm39) A76E probably benign Het
Trip13 G C 13: 74,061,373 (GRCm39) A430G probably benign Het
Trpm6 A G 19: 18,770,226 (GRCm39) E337G probably damaging Het
Tut7 A T 13: 59,937,004 (GRCm39) N1214K probably benign Het
Vmn1r37 T A 6: 66,708,377 (GRCm39) M1K probably null Het
Wdr72 T G 9: 74,086,783 (GRCm39) probably benign Het
Zfp583 T C 7: 6,319,771 (GRCm39) K414E probably damaging Het
Zfp940 A C 7: 29,544,948 (GRCm39) S320A probably benign Het
Zfp979 A C 4: 147,697,763 (GRCm39) C315W probably damaging 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
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
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'- ACTGTCAGATACCCCTGAGG -3'
(R):5'- CAAAGCACAGCTGTCTTCCTG -3'

Sequencing Primer
(F):5'- TGTCAGATACCCCTGAGGAATTC -3'
(R):5'- TTCTCTTGGGACACAGGCAGAC -3'
Posted On 2020-01-23