Incidental Mutation 'IGL02321:Acsf3'
ID288227
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: 0.072) question?
Stock #IGL02321
Quality Score
Status
Chromosome8
Chromosomal Location122775486-122817880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 122780114 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 49 (R49C)
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: R49C

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: R49C

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: R49C

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000212790
AA Change: R49C

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,216,572 E1476G probably benign Het
Alg2 T C 4: 47,474,249 Y13C probably benign Het
Apoa4 A G 9: 46,242,920 D273G probably damaging Het
Axl C T 7: 25,758,769 V854I probably damaging Het
BC117090 A G 16: 36,323,026 probably benign Het
Bicral A G 17: 46,811,947 S673P probably benign Het
C87499 A G 4: 88,630,103 S22P probably benign Het
Camkk2 A G 5: 122,764,127 S40P probably damaging Het
Ccdc39 A G 3: 33,816,958 probably benign Het
Ccdc87 A G 19: 4,841,031 E517G probably damaging Het
Cd22 A G 7: 30,869,883 S603P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chml G A 1: 175,692,334 P68L possibly damaging Het
Ephb3 T C 16: 21,214,389 V41A probably damaging Het
Gm4781 T A 10: 100,396,890 noncoding transcript Het
Hip1r A T 5: 123,999,890 I760F probably damaging Het
Hyal5 T C 6: 24,891,615 L476P probably benign Het
Isyna1 A G 8: 70,596,270 N333S probably damaging Het
Kcnmb1 A T 11: 33,970,091 probably benign Het
Mark4 T C 7: 19,426,389 T649A probably benign Het
Mgat1 T C 11: 49,261,709 F340L probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mmaa T G 8: 79,274,130 Y233S probably damaging Het
Ntsr1 G T 2: 180,538,834 probably null Het
Olfr1394 T G 11: 49,160,775 Y254D probably damaging Het
Orm2 T C 4: 63,362,992 Y56H probably damaging Het
Pex26 C T 6: 121,193,509 probably benign Het
Pik3r4 C T 9: 105,644,478 A81V probably benign Het
Prr14l G T 5: 32,827,807 T1448K probably benign Het
Ralgapa2 A T 2: 146,412,816 Y799* probably null Het
Ryr1 A C 7: 29,078,696 L2132R probably damaging Het
Sec23b T C 2: 144,579,405 probably null Het
Sirt5 C T 13: 43,379,688 T164I probably damaging Het
Slc9c1 T C 16: 45,556,614 V429A probably benign Het
Spen T C 4: 141,517,130 D198G unknown Het
Syne2 A G 12: 75,918,999 N832D possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r191 T A 13: 22,178,898 R229* probably null Het
Vps53 C T 11: 76,048,538 D680N possibly damaging Het
Wbp1l G T 19: 46,654,310 G234V probably benign Het
Wdfy3 A T 5: 101,922,609 S1098T probably damaging Het
Yod1 T A 1: 130,718,951 D188E probably damaging Het
Zbtb25 T C 12: 76,350,133 D105G 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
IGL02064:Acsf3 APN 8 122780247 missense possibly damaging 0.74
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