Incidental Mutation 'IGL02214:Etfa'
ID284773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etfa
Ensembl Gene ENSMUSG00000032314
Gene Nameelectron transferring flavoprotein, alpha polypeptide
Synonyms2010200I21Rik, D9Ertd394e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.267) question?
Stock #IGL02214
Quality Score
Status
Chromosome9
Chromosomal Location55454508-55512243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 55464811 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 289 (G289W)
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
Predicted Effect probably damaging
Transcript: ENSMUST00000034866
AA Change: G289W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: G289W

DomainStartEndE-ValueType
ETF 22 203 4.71e-48 SMART
Pfam:ETF_alpha 210 293 6.4e-40 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,574,724 probably benign Het
A330008L17Rik T A 8: 99,421,758 noncoding transcript Het
A930004D18Rik A G 2: 18,027,256 L17P unknown Het
Abca14 A T 7: 120,294,175 M1283L probably benign Het
Adarb1 A T 10: 77,322,301 V104E probably damaging Het
Ano1 T A 7: 144,655,708 N252Y possibly damaging Het
Atp6v0a1 A G 11: 101,039,840 S498G probably benign Het
Bdp1 A G 13: 100,041,535 V1942A probably benign Het
Carf T A 1: 60,148,081 D579E probably damaging Het
Cltc A T 11: 86,732,586 S200R probably benign Het
Cpeb1 T C 7: 81,372,057 S113G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ehd3 T A 17: 73,820,546 L158H probably damaging Het
Fndc3c1 G A X: 106,425,829 T1029I probably benign Het
Gipr C A 7: 19,157,546 G402V possibly damaging Het
Gm5724 T A 6: 141,723,185 D507V possibly damaging Het
Hacd1 C T 2: 14,026,947 V242M probably damaging Het
Hecw1 A G 13: 14,300,393 L520P probably damaging Het
Ibtk A T 9: 85,714,179 probably benign Het
Igkv16-104 A C 6: 68,425,794 I24L probably benign Het
Kcnh8 A T 17: 52,877,911 Y407F possibly damaging Het
Mansc1 C T 6: 134,610,360 V285M probably benign Het
Mindy4 A G 6: 55,216,651 R110G possibly damaging Het
Morn1 C T 4: 155,092,319 H100Y probably damaging Het
Naip6 A T 13: 100,316,059 S165T probably damaging Het
Olfr1110 T G 2: 87,135,505 K272T probably damaging Het
Olfr538 A T 7: 140,574,557 R135* probably null Het
Prx G T 7: 27,518,912 R946M probably damaging Het
Ptchd1 A G X: 155,573,710 V833A possibly damaging Het
Rgl2 A G 17: 33,935,189 D481G probably benign Het
Serpinb3a A G 1: 107,048,488 probably null Het
Shtn1 T C 19: 58,999,886 probably benign Het
Sult1b1 C T 5: 87,535,090 probably benign Het
Tbl3 T C 17: 24,704,132 probably benign Het
Trappc9 C T 15: 73,012,882 W416* probably null Het
Ubr4 G A 4: 139,461,827 probably null Het
Ubr4 T C 4: 139,428,583 Y2240H possibly damaging Het
Vmn2r76 A C 7: 86,229,930 F387L probably benign Het
Vps8 G A 16: 21,517,285 C729Y probably damaging Het
Other mutations in Etfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Etfa APN 9 55486700 critical splice donor site probably null
IGL03068:Etfa APN 9 55487482 missense probably benign
R0944:Etfa UTSW 9 55488838 missense probably damaging 1.00
R2267:Etfa UTSW 9 55486731 missense probably damaging 1.00
R2913:Etfa UTSW 9 55482329 missense probably damaging 1.00
R4528:Etfa UTSW 9 55500050 missense probably damaging 1.00
R4769:Etfa UTSW 9 55495767 missense possibly damaging 0.57
R5055:Etfa UTSW 9 55500133 missense probably damaging 1.00
R5089:Etfa UTSW 9 55488866 nonsense probably null
R5402:Etfa UTSW 9 55454739 missense probably benign
R6141:Etfa UTSW 9 55464819 missense probably damaging 1.00
R6363:Etfa UTSW 9 55500133 missense probably damaging 1.00
R6574:Etfa UTSW 9 55495626 missense probably damaging 1.00
R6835:Etfa UTSW 9 55495819 missense probably benign
Posted On2015-04-16