Incidental Mutation 'IGL02064:Acsf3'
ID283312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsf3
Ensembl Gene ENSMUSG00000015016
Gene Nameacyl-CoA synthetase family member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02064
Quality Score
Status
Chromosome8
Chromosomal Location122775486-122817880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122780247 bp
ZygosityHeterozygous
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]
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
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Cldn10 T C 14: 118,855,012 I8T probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fryl A G 5: 73,124,769 probably benign Het
Gm8298 T C 3: 59,877,042 L312P probably damaging Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Pcdh19 A G X: 133,685,970 M432T probably benign Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Slc6a21 T A 7: 45,286,459 I38N possibly damaging Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Tbc1d14 A T 5: 36,507,675 L237* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q probably damaging Het
Other mutations in Acsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Acsf3 APN 8 122780642 splice site probably benign
IGL01930:Acsf3 APN 8 122780346 missense probably benign 0.03
IGL02321:Acsf3 APN 8 122780114 missense possibly damaging 0.57
IGL02342:Acsf3 APN 8 122817498 missense probably benign 0.03
R0233:Acsf3 UTSW 8 122780292 missense probably damaging 1.00
R0233:Acsf3 UTSW 8 122780292 missense probably damaging 1.00
R0240:Acsf3 UTSW 8 122780181 missense probably damaging 1.00
R0240:Acsf3 UTSW 8 122780181 missense probably damaging 1.00
R0566:Acsf3 UTSW 8 122781527 missense possibly damaging 0.95
R1255:Acsf3 UTSW 8 122785966 critical splice donor site probably null
R1836:Acsf3 UTSW 8 122780183 missense probably damaging 0.99
R1886:Acsf3 UTSW 8 122784002 missense probably damaging 1.00
R1977:Acsf3 UTSW 8 122781533 missense probably damaging 1.00
R2204:Acsf3 UTSW 8 122813644 missense probably damaging 0.98
R4735:Acsf3 UTSW 8 122781479 missense probably damaging 1.00
R4795:Acsf3 UTSW 8 122780157 missense possibly damaging 0.59
R4850:Acsf3 UTSW 8 122817436 missense probably damaging 1.00
R5092:Acsf3 UTSW 8 122817392 missense probably benign 0.12
R5435:Acsf3 UTSW 8 122780281 missense probably damaging 1.00
R6115:Acsf3 UTSW 8 122790672 missense probably damaging 1.00
R6147:Acsf3 UTSW 8 122781474 missense probably damaging 1.00
R6283:Acsf3 UTSW 8 122785955 missense probably damaging 1.00
R6848:Acsf3 UTSW 8 122790590 missense probably damaging 1.00
R7268:Acsf3 UTSW 8 122790662 missense probably benign 0.16
R7291:Acsf3 UTSW 8 122813577 missense probably benign 0.03
R7319:Acsf3 UTSW 8 122813031 missense probably damaging 1.00
R7350:Acsf3 UTSW 8 122785946 missense probably benign 0.00
R7402:Acsf3 UTSW 8 122780424 missense probably damaging 1.00
Posted On2015-04-16