Incidental Mutation 'R6835:Etfa'
ID 534399
Institutional Source Beutler Lab
Gene Symbol Etfa
Ensembl Gene ENSMUSG00000032314
Gene Name electron transferring flavoprotein, alpha polypeptide
Synonyms 2010200I21Rik, D9Ertd394e
MMRRC Submission 044944-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R6835 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55361792-55419527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55403103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 64 (V64A)
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
AlphaFold Q99LC5
Predicted Effect probably benign
Transcript: ENSMUST00000034866
AA Change: V64A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: V64A

DomainStartEndE-ValueType
ETF 22 203 4.71e-48 SMART
Pfam:ETF_alpha 210 293 6.4e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A G 9: 107,807,761 (GRCm39) R695G probably benign Het
Arhgef4 A G 1: 34,845,574 (GRCm39) H1533R probably damaging Het
Birc6 T C 17: 74,949,499 (GRCm39) L3120P probably damaging Het
Cfap46 T A 7: 139,232,414 (GRCm39) I850F probably damaging Het
Crym A C 7: 119,785,868 (GRCm39) S311A probably benign Het
Cttn T C 7: 144,010,234 (GRCm39) probably null Het
Dtnb C T 12: 3,682,841 (GRCm39) probably benign Het
Edem1 T C 6: 108,831,360 (GRCm39) V607A probably benign Het
Fam133b A G 5: 3,604,732 (GRCm39) T40A possibly damaging Het
Fmn2 C A 1: 174,527,235 (GRCm39) D1442E probably damaging Het
Gpi1 T C 7: 33,926,563 (GRCm39) K128E possibly damaging Het
Gpr179 A T 11: 97,238,293 (GRCm39) F310L probably damaging Het
Hdac7 T A 15: 97,700,628 (GRCm39) H531L probably damaging Het
Hfm1 G A 5: 107,026,681 (GRCm39) R145* probably null Het
Hsp90b1 A T 10: 86,529,949 (GRCm39) D573E probably damaging Het
Hunk T G 16: 90,269,412 (GRCm39) W243G probably damaging Het
Icam1 G T 9: 20,938,421 (GRCm39) G327W possibly damaging Het
Ino80d C A 1: 63,113,485 (GRCm39) A322S probably benign Het
Irag1 T G 7: 110,520,541 (GRCm39) E278A probably damaging Het
Itpkc A C 7: 26,927,240 (GRCm39) S225A probably benign Het
Krt75 C T 15: 101,479,472 (GRCm39) R286Q probably benign Het
Lmnb2 A G 10: 80,745,794 (GRCm39) L95P probably damaging Het
Mns1 T C 9: 72,360,026 (GRCm39) M392T probably damaging Het
Morc3 A T 16: 93,644,309 (GRCm39) N200I probably damaging Het
Myadm T C 7: 3,346,192 (GRCm39) V318A possibly damaging Het
Nt5dc1 A C 10: 34,186,375 (GRCm39) S398A probably benign Het
Or13c7 T C 4: 43,854,912 (GRCm39) V201A probably benign Het
Or1e31 A G 11: 73,690,061 (GRCm39) I174T possibly damaging Het
Pcdhga2 T C 18: 37,803,842 (GRCm39) I562T probably damaging Het
Pcdhgb1 T A 18: 37,813,553 (GRCm39) C15S probably benign Het
Pikfyve T G 1: 65,298,002 (GRCm39) L1532R probably damaging Het
Rdh7 T A 10: 127,720,608 (GRCm39) T255S probably benign Het
Rtel1 A G 2: 180,997,746 (GRCm39) T1165A probably benign Het
Sdk2 C T 11: 113,720,874 (GRCm39) A1352T probably damaging Het
Strip2 T C 6: 29,941,916 (GRCm39) S629P probably damaging Het
Taf5 A G 19: 47,065,776 (GRCm39) T494A possibly damaging Het
Tek T G 4: 94,741,671 (GRCm39) N809K possibly damaging Het
Tmbim7 A T 5: 3,711,943 (GRCm39) T63S probably benign Het
Utrn A T 10: 12,603,508 (GRCm39) L624Q probably damaging Het
Xbp1 A G 11: 5,471,809 (GRCm39) probably benign Het
Zbp1 T A 2: 173,055,704 (GRCm39) probably null Het
Zfp112 T C 7: 23,825,231 (GRCm39) C400R probably damaging Het
Zfp202 C T 9: 40,121,531 (GRCm39) probably null Het
Zfp747 T C 7: 126,973,219 (GRCm39) E317G possibly damaging Het
Other mutations in Etfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02214:Etfa APN 9 55,372,095 (GRCm39) missense probably damaging 1.00
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
R9300:Etfa UTSW 9 55,396,152 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAAAATCAATGGTGTGAGTTCC -3'
(R):5'- TCTGACTCTCAAGTGCTGGG -3'

Sequencing Primer
(F):5'- GGTGTGAGTTCCTCTGAGAATTAAAC -3'
(R):5'- CTGACTCTCAAGTGCTGGGATTAAAG -3'
Posted On 2018-09-12