Incidental Mutation 'IGL01721:Acad8'
ID105125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acad8
Ensembl Gene ENSMUSG00000031969
Gene Nameacyl-Coenzyme A dehydrogenase family, member 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01721
Quality Score
Status
Chromosome9
Chromosomal Location26974135-26999566 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 26992267 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000060513] [ENSMUST00000120367] [ENSMUST00000128923] [ENSMUST00000132293]
Predicted Effect probably benign
Transcript: ENSMUST00000060513
SMART Domains Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 40 151 1e-28 PFAM
Pfam:Acyl-CoA_dh_M 155 207 1.8e-23 PFAM
Pfam:Acyl-CoA_dh_1 261 411 2.9e-47 PFAM
Pfam:Acyl-CoA_dh_2 276 399 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120367
SMART Domains Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 40 151 7.8e-29 PFAM
Pfam:Acyl-CoA_dh_M 155 249 3.7e-28 PFAM
Pfam:Acyl-CoA_dh_1 261 411 5.7e-45 PFAM
Pfam:Acyl-CoA_dh_2 276 400 2.9e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000128923
AA Change: V42A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129490
Predicted Effect unknown
Transcript: ENSMUST00000132293
AA Change: V42A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138102
Predicted Effect probably benign
Transcript: ENSMUST00000215693
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 dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cold intolerance at young age with a progressive hepatic steatosis and abnormal mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,139,253 M51V possibly damaging Het
Atp2a2 A G 5: 122,500,792 V53A possibly damaging Het
Bicra T C 7: 15,988,699 T298A probably benign Het
Ccdc185 C T 1: 182,748,978 E49K possibly damaging Het
Cfhr2 A G 1: 139,813,614 S208P probably benign Het
Chd1 T C 17: 15,770,168 Y1661H probably damaging Het
Cntnap5a A G 1: 116,157,637 H435R probably benign Het
Cog8 A G 8: 107,054,065 V187A probably benign Het
Col24a1 A G 3: 145,538,567 H1532R probably benign Het
Dpp6 A G 5: 27,631,520 Y336C probably damaging Het
Drosha T A 15: 12,846,112 Y444* probably null Het
Egf A T 3: 129,697,722 C374* probably null Het
Eif2b3 C T 4: 117,058,804 H203Y probably damaging Het
Erbb4 A G 1: 68,254,563 V723A possibly damaging Het
Fbxo21 T C 5: 117,988,790 I202T probably benign Het
Gbp6 T C 5: 105,274,207 M544V probably benign Het
Gm10750 T C 2: 149,016,044 T96A unknown Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm8232 A T 14: 44,437,183 probably null Het
Gsdma3 T C 11: 98,637,956 V412A possibly damaging Het
Hs6st1 A T 1: 36,068,935 H93L probably damaging Het
Hsf2 G A 10: 57,496,181 E77K probably benign Het
Ing3 T A 6: 21,968,880 probably benign Het
Ints6 T C 14: 62,713,739 I280M probably damaging Het
Kazn C A 4: 142,159,043 probably null Het
Klhl20 T C 1: 161,095,587 Y13C probably damaging Het
Krtap26-1 G A 16: 88,647,172 P187L probably damaging Het
Mga T A 2: 119,935,239 I1329K probably damaging Het
Mindy4 A G 6: 55,223,999 D223G probably damaging Het
Ncor2 T C 5: 125,050,937 E124G probably damaging Het
Nfat5 G A 8: 107,344,979 probably null Het
Nkain1 A G 4: 130,532,134 F184L probably benign Het
Olfr1061 T C 2: 86,413,333 T240A probably damaging Het
Rars A T 11: 35,828,664 F110L probably damaging Het
Rfx6 A C 10: 51,723,077 K509N probably damaging Het
Serpinb2 T C 1: 107,515,603 L44P probably damaging Het
Sin3a G A 9: 57,095,325 R167Q probably damaging Het
Sos2 T A 12: 69,603,867 T809S probably damaging Het
Stard9 A G 2: 120,703,330 E3356G probably damaging Het
Vmn1r52 A G 6: 90,178,923 T70A probably benign Het
Other mutations in Acad8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Acad8 APN 9 26990594 missense probably damaging 1.00
R1473:Acad8 UTSW 9 26979041 missense probably benign 0.00
R2102:Acad8 UTSW 9 26985565 nonsense probably null
R3030:Acad8 UTSW 9 26979059 missense probably benign 0.04
R4023:Acad8 UTSW 9 26979185 missense probably benign 0.02
R4276:Acad8 UTSW 9 26978449 missense probably null 0.47
R4667:Acad8 UTSW 9 26990627 missense probably damaging 1.00
R4668:Acad8 UTSW 9 26990627 missense probably damaging 1.00
R4669:Acad8 UTSW 9 26990627 missense probably damaging 1.00
R4898:Acad8 UTSW 9 26978402 missense probably damaging 1.00
R5418:Acad8 UTSW 9 26985557 missense probably damaging 1.00
R5486:Acad8 UTSW 9 26999495 start codon destroyed probably null
R5549:Acad8 UTSW 9 26985551 missense probably damaging 1.00
R5887:Acad8 UTSW 9 26979324 splice site probably null
R5943:Acad8 UTSW 9 26999444 missense probably benign 0.00
R7150:Acad8 UTSW 9 26978454 missense probably damaging 1.00
R7197:Acad8 UTSW 9 26977671 splice site probably null
R7226:Acad8 UTSW 9 26978430 nonsense probably null
R7561:Acad8 UTSW 9 26979242 missense probably benign 0.03
R7812:Acad8 UTSW 9 26979180 missense probably damaging 1.00
Posted On2014-01-21