Incidental Mutation 'IGL02214:Etfa'
ID 284773
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 # IGL02214
Quality Score
Status
Chromosome 9
Chromosomal Location 55361792-55419527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55372095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 289 (G289W)
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
AlphaFold Q99LC5
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: 32,464,736 (GRCm39) probably benign Het
A330008L17Rik T A 8: 100,148,390 (GRCm39) noncoding transcript Het
A930004D18Rik A G 2: 18,032,067 (GRCm39) L17P unknown Het
Abca14 A T 7: 119,893,398 (GRCm39) M1283L probably benign Het
Adarb1 A T 10: 77,158,135 (GRCm39) V104E probably damaging Het
Ano1 T A 7: 144,209,445 (GRCm39) N252Y possibly damaging Het
Atp6v0a1 A G 11: 100,930,666 (GRCm39) S498G probably benign Het
Bdp1 A G 13: 100,178,043 (GRCm39) V1942A probably benign Het
Carf T A 1: 60,187,240 (GRCm39) D579E probably damaging Het
Cltc A T 11: 86,623,412 (GRCm39) S200R probably benign Het
Cpeb1 T C 7: 81,021,805 (GRCm39) S113G possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ehd3 T A 17: 74,127,541 (GRCm39) L158H probably damaging Het
Fndc3c1 G A X: 105,469,435 (GRCm39) T1029I probably benign Het
Gipr C A 7: 18,891,471 (GRCm39) G402V possibly damaging Het
Hacd1 C T 2: 14,031,758 (GRCm39) V242M probably damaging Het
Hecw1 A G 13: 14,474,978 (GRCm39) L520P probably damaging Het
Ibtk A T 9: 85,596,232 (GRCm39) probably benign Het
Igkv16-104 A C 6: 68,402,778 (GRCm39) I24L probably benign Het
Kcnh8 A T 17: 53,184,939 (GRCm39) Y407F possibly damaging Het
Mansc1 C T 6: 134,587,323 (GRCm39) V285M probably benign Het
Mindy4 A G 6: 55,193,636 (GRCm39) R110G possibly damaging Het
Morn1 C T 4: 155,176,776 (GRCm39) H100Y probably damaging Het
Naip6 A T 13: 100,452,567 (GRCm39) S165T probably damaging Het
Or13a24 A T 7: 140,154,470 (GRCm39) R135* probably null Het
Or5aq1 T G 2: 86,965,849 (GRCm39) K272T probably damaging Het
Prx G T 7: 27,218,337 (GRCm39) R946M probably damaging Het
Ptchd1 A G X: 154,356,706 (GRCm39) V833A possibly damaging Het
Rgl2 A G 17: 34,154,163 (GRCm39) D481G probably benign Het
Serpinb3a A G 1: 106,976,218 (GRCm39) probably null Het
Shtn1 T C 19: 58,988,318 (GRCm39) probably benign Het
Slco1a7 T A 6: 141,668,911 (GRCm39) D507V possibly damaging Het
Sult1b1 C T 5: 87,682,949 (GRCm39) probably benign Het
Tbl3 T C 17: 24,923,106 (GRCm39) probably benign Het
Trappc9 C T 15: 72,884,731 (GRCm39) W416* probably null Het
Ubr4 T C 4: 139,155,894 (GRCm39) Y2240H possibly damaging Het
Ubr4 G A 4: 139,189,138 (GRCm39) probably null Het
Vmn2r76 A C 7: 85,879,138 (GRCm39) F387L probably benign Het
Vps8 G A 16: 21,336,035 (GRCm39) C729Y probably damaging Het
Other mutations in Etfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Etfa APN 9 55,393,984 (GRCm39) critical splice donor site probably null
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