Incidental Mutation 'IGL02255:Acot4'
ID286563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot4
Ensembl Gene ENSMUSG00000052392
Gene Nameacyl-CoA thioesterase 4
SynonymsB430212I04Rik, Pte2b, PTE-Ib
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.043) question?
Stock #IGL02255
Quality Score
Status
Chromosome12
Chromosomal Location84038379-84048601 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84042025 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 216 (L216F)
Ref Sequence ENSEMBL: ENSMUSP00000021652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021652]
Predicted Effect probably damaging
Transcript: ENSMUST00000021652
AA Change: L216F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021652
Gene: ENSMUSG00000052392
AA Change: L216F

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 16 141 3.4e-43 PFAM
low complexity region 148 159 N/A INTRINSIC
Pfam:Abhydrolase_5 162 361 1e-6 PFAM
Pfam:FSH1 193 364 3.5e-5 PFAM
Pfam:BAAT_C 203 412 1.1e-82 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000128162
AA Change: L150F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180751
Predicted Effect probably benign
Transcript: ENSMUST00000221229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221860
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 C T 7: 28,614,723 C349Y probably damaging Het
C330027C09Rik T A 16: 49,010,813 D541E probably damaging Het
Cdc42ep5 G A 7: 4,151,400 Q130* probably null Het
Dmxl2 A G 9: 54,393,768 I2353T probably benign Het
Dnmt3a T A 12: 3,872,886 probably benign Het
Dtx3l A G 16: 35,933,336 V300A probably benign Het
Fbxo15 G T 18: 84,964,196 probably null Het
Fbxw22 C A 9: 109,386,551 probably benign Het
Gli2 A T 1: 118,844,349 probably null Het
Gli3 T A 13: 15,648,719 I342N probably damaging Het
Gm5431 T A 11: 48,888,958 N657I possibly damaging Het
Mybpc1 A T 10: 88,536,428 I766N probably damaging Het
Olfr1475 T A 19: 13,479,985 Y71F probably damaging Het
Pkhd1 A T 1: 20,584,101 I244N probably damaging Het
Ret G T 6: 118,175,120 probably null Het
Rrp12 A T 19: 41,872,971 F966I probably damaging Het
Rubcn T C 16: 32,827,345 I681V probably benign Het
Selenof T C 3: 144,596,827 V121A possibly damaging Het
Srl A T 16: 4,487,558 V541D probably damaging Het
Thbs2 T C 17: 14,689,785 E184G probably benign Het
Vmn2r81 G A 10: 79,247,972 W60* probably null Het
Zfp526 A G 7: 25,225,533 M406V possibly damaging Het
Other mutations in Acot4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Acot4 APN 12 84041963 missense probably damaging 1.00
IGL02967:Acot4 APN 12 84043461 missense probably benign
R1827:Acot4 UTSW 12 84041938 missense probably damaging 1.00
R2105:Acot4 UTSW 12 84038742 missense probably damaging 1.00
R2509:Acot4 UTSW 12 84041873 missense probably damaging 1.00
R2904:Acot4 UTSW 12 84043603 missense probably benign 0.31
R3859:Acot4 UTSW 12 84043444 missense probably benign 0.17
R3904:Acot4 UTSW 12 84043327 unclassified probably null
R4190:Acot4 UTSW 12 84043174 intron probably benign
R4192:Acot4 UTSW 12 84043174 intron probably benign
R4541:Acot4 UTSW 12 84043248 missense probably benign 0.38
R5061:Acot4 UTSW 12 84038701 missense probably benign 0.03
R5682:Acot4 UTSW 12 84038802 missense probably damaging 1.00
R5864:Acot4 UTSW 12 84043404 missense probably benign 0.04
R6818:Acot4 UTSW 12 84042009 missense probably damaging 1.00
Posted On2015-04-16