Incidental Mutation 'IGL02471:Etfa'
ID 294750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etfa
Ensembl Gene ENSMUSG00000032314
Gene Name electron transferring flavoprotein, alpha polypeptide
Synonyms 2010200I21Rik, D9Ertd394e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # IGL02471
Quality Score
Status
Chromosome 9
Chromosomal Location 55361792-55419527 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 55393984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
AlphaFold Q99LC5
Predicted Effect probably null
Transcript: ENSMUST00000034866
SMART Domains Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314

DomainStartEndE-ValueType
ETF 22 203 4.71e-48 SMART
Pfam:ETF_alpha 210 293 6.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153186
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Etfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02214:Etfa APN 9 55,372,095 (GRCm39) missense probably damaging 1.00
IGL03068:Etfa APN 9 55,394,766 (GRCm39) missense probably benign
R0944:Etfa UTSW 9 55,396,122 (GRCm39) missense probably damaging 1.00
R2267:Etfa UTSW 9 55,394,015 (GRCm39) missense probably damaging 1.00
R2913:Etfa UTSW 9 55,389,613 (GRCm39) missense probably damaging 1.00
R4528:Etfa UTSW 9 55,407,334 (GRCm39) missense probably damaging 1.00
R4769:Etfa UTSW 9 55,403,051 (GRCm39) missense possibly damaging 0.57
R5055:Etfa UTSW 9 55,407,417 (GRCm39) missense probably damaging 1.00
R5089:Etfa UTSW 9 55,396,150 (GRCm39) nonsense probably null
R5402:Etfa UTSW 9 55,362,023 (GRCm39) missense probably benign
R6141:Etfa UTSW 9 55,372,103 (GRCm39) missense probably damaging 1.00
R6363:Etfa UTSW 9 55,407,417 (GRCm39) missense probably damaging 1.00
R6574:Etfa UTSW 9 55,402,910 (GRCm39) missense probably damaging 1.00
R6835:Etfa UTSW 9 55,403,103 (GRCm39) missense probably benign
R9300:Etfa UTSW 9 55,396,152 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16