Incidental Mutation 'IGL02064:Acsf3'
ID 283312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsf3
Ensembl Gene ENSMUSG00000015016
Gene Name acyl-CoA synthetase family member 3
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # IGL02064
Quality Score
Status
Chromosome 8
Chromosomal Location 123502225-123544619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123506986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 93 (L93P)
Ref Sequence ENSEMBL: ENSMUSP00000148725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015160] [ENSMUST00000127664] [ENSMUST00000212781] [ENSMUST00000212790]
AlphaFold Q3URE1
Predicted Effect probably benign
Transcript: ENSMUST00000015160
AA Change: L93P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: L93P

DomainStartEndE-ValueType
Pfam:AMP-binding 47 478 3.9e-86 PFAM
Pfam:AMP-binding_C 486 561 6.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000212781
AA Change: L93P

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000212790
AA Change: L93P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212903
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-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Acsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Acsf3 APN 8 123,507,381 (GRCm39) splice site probably benign
IGL01930:Acsf3 APN 8 123,507,085 (GRCm39) missense probably benign 0.03
IGL02321:Acsf3 APN 8 123,506,853 (GRCm39) missense possibly damaging 0.57
IGL02342:Acsf3 APN 8 123,544,237 (GRCm39) missense probably benign 0.03
R0233:Acsf3 UTSW 8 123,507,031 (GRCm39) missense probably damaging 1.00
R0233:Acsf3 UTSW 8 123,507,031 (GRCm39) missense probably damaging 1.00
R0240:Acsf3 UTSW 8 123,506,920 (GRCm39) missense probably damaging 1.00
R0240:Acsf3 UTSW 8 123,506,920 (GRCm39) missense probably damaging 1.00
R0566:Acsf3 UTSW 8 123,508,266 (GRCm39) missense possibly damaging 0.95
R1255:Acsf3 UTSW 8 123,512,705 (GRCm39) critical splice donor site probably null
R1836:Acsf3 UTSW 8 123,506,922 (GRCm39) missense probably damaging 0.99
R1886:Acsf3 UTSW 8 123,510,741 (GRCm39) missense probably damaging 1.00
R1977:Acsf3 UTSW 8 123,508,272 (GRCm39) missense probably damaging 1.00
R2204:Acsf3 UTSW 8 123,540,383 (GRCm39) missense probably damaging 0.98
R4735:Acsf3 UTSW 8 123,508,218 (GRCm39) missense probably damaging 1.00
R4795:Acsf3 UTSW 8 123,506,896 (GRCm39) missense possibly damaging 0.59
R4850:Acsf3 UTSW 8 123,544,175 (GRCm39) missense probably damaging 1.00
R5092:Acsf3 UTSW 8 123,544,131 (GRCm39) missense probably benign 0.12
R5435:Acsf3 UTSW 8 123,507,020 (GRCm39) missense probably damaging 1.00
R6115:Acsf3 UTSW 8 123,517,411 (GRCm39) missense probably damaging 1.00
R6147:Acsf3 UTSW 8 123,508,213 (GRCm39) missense probably damaging 1.00
R6283:Acsf3 UTSW 8 123,512,694 (GRCm39) missense probably damaging 1.00
R6848:Acsf3 UTSW 8 123,517,329 (GRCm39) missense probably damaging 1.00
R7268:Acsf3 UTSW 8 123,517,401 (GRCm39) missense probably benign 0.16
R7291:Acsf3 UTSW 8 123,540,316 (GRCm39) missense probably benign 0.03
R7319:Acsf3 UTSW 8 123,539,770 (GRCm39) missense probably damaging 1.00
R7350:Acsf3 UTSW 8 123,512,685 (GRCm39) missense probably benign 0.00
R7402:Acsf3 UTSW 8 123,507,163 (GRCm39) missense probably damaging 1.00
R7890:Acsf3 UTSW 8 123,512,704 (GRCm39) critical splice donor site probably null
R7908:Acsf3 UTSW 8 123,512,562 (GRCm39) missense probably damaging 0.99
R8058:Acsf3 UTSW 8 123,540,373 (GRCm39) missense possibly damaging 0.88
R8345:Acsf3 UTSW 8 123,508,284 (GRCm39) missense probably benign 0.25
R9468:Acsf3 UTSW 8 123,539,769 (GRCm39) missense probably damaging 1.00
Z1177:Acsf3 UTSW 8 123,506,703 (GRCm39) start gained probably benign
Posted On 2015-04-16