Incidental Mutation 'R5089:Etfa'
ID 387642
Institutional Source Beutler Lab
Gene Symbol Etfa
Ensembl Gene ENSMUSG00000032314
Gene Name electron transferring flavoprotein, alpha polypeptide
Synonyms 2010200I21Rik, D9Ertd394e
MMRRC Submission 042678-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R5089 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 55361792-55419527 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 55396150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 139 (K139*)
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
AlphaFold Q99LC5
Predicted Effect probably null
Transcript: ENSMUST00000034866
AA Change: K139*
SMART Domains Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: K139*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (65/66)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,698,672 (GRCm39) N145S possibly damaging Het
Acp2 T C 2: 91,042,267 (GRCm39) probably benign Het
Adgrf2 G A 17: 43,020,988 (GRCm39) A612V probably benign Het
Bltp1 T A 3: 37,041,651 (GRCm39) D2676E probably benign Het
Cct3 T G 3: 88,208,150 (GRCm39) M46R probably damaging Het
Cdc123 T C 2: 5,809,811 (GRCm39) D200G probably benign Het
Cdh9 T A 15: 16,778,362 (GRCm39) F59Y probably damaging Het
Cluh A G 11: 74,551,198 (GRCm39) E349G probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Crbn T C 6: 106,758,679 (GRCm39) H381R possibly damaging Het
Crim1 A G 17: 78,681,519 (GRCm39) D991G probably damaging Het
Dhx16 A T 17: 36,194,981 (GRCm39) M503L probably damaging Het
Dthd1 A G 5: 63,007,248 (GRCm39) T650A probably benign Het
Flnc T C 6: 29,447,812 (GRCm39) I1205T probably damaging Het
Fzd6 T A 15: 38,870,875 (GRCm39) C32S probably damaging Het
Gm1110 T A 9: 26,793,683 (GRCm39) D515V probably damaging Het
Gm7676 T C 8: 13,946,401 (GRCm39) noncoding transcript Het
Gpr157 T C 4: 150,186,750 (GRCm39) S293P possibly damaging Het
Hc T C 2: 34,914,902 (GRCm39) D810G probably benign Het
Helz2 T C 2: 180,876,942 (GRCm39) H1184R probably benign Het
Hoxc5 A T 15: 102,922,487 (GRCm39) probably benign Het
Iah1 C T 12: 21,373,309 (GRCm39) S196L possibly damaging Het
Il5 C T 11: 53,612,655 (GRCm39) T55I possibly damaging Het
Kras T C 6: 145,170,869 (GRCm39) K169E probably benign Het
Larp1 C A 11: 57,938,693 (GRCm39) T492K possibly damaging Het
Lgr5 T C 10: 115,314,328 (GRCm39) D203G probably damaging Het
Lpcat2 G A 8: 93,606,071 (GRCm39) V241M probably damaging Het
Mpeg1 G A 19: 12,440,361 (GRCm39) M606I probably benign Het
Ms4a1 G A 19: 11,236,176 (GRCm39) P4S probably benign Het
Nat10 A T 2: 103,587,488 (GRCm39) probably benign Het
Ncaph2 T A 15: 89,240,148 (GRCm39) probably null Het
Nfat5 T A 8: 108,078,070 (GRCm39) V403D probably damaging Het
Or2y10 T A 11: 49,455,240 (GRCm39) M164K possibly damaging Het
Or4c109 A G 2: 88,818,516 (GRCm39) F10S probably damaging Het
Pax7 T C 4: 139,557,576 (GRCm39) H65R probably damaging Het
Phf20 C A 2: 156,144,782 (GRCm39) H797N probably benign Het
Pkhd1l1 T A 15: 44,455,283 (GRCm39) S4015T probably benign Het
Prdm5 C T 6: 65,833,074 (GRCm39) H148Y probably benign Het
Prpf8 A G 11: 75,400,054 (GRCm39) probably null Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Sardh A G 2: 27,129,625 (GRCm39) probably null Het
Serpinb6b G A 13: 33,162,133 (GRCm39) E192K probably benign Het
Shfl A T 9: 20,780,212 (GRCm39) M1L probably benign Het
Skor1 A G 9: 63,053,205 (GRCm39) S216P probably damaging Het
Slc51a A G 16: 32,296,364 (GRCm39) probably null Het
Smarcb1 T C 10: 75,751,013 (GRCm39) T74A probably benign Het
Spg11 A T 2: 121,945,198 (GRCm39) Y107* probably null Het
Spmip5 A T 19: 58,774,678 (GRCm39) L176H probably damaging Het
Stk25 T A 1: 93,552,330 (GRCm39) K350M probably benign Het
Syne1 C T 10: 5,355,444 (GRCm39) W379* probably null Het
Taco1 A T 11: 105,960,437 (GRCm39) E126V probably benign Het
Tbc1d12 T A 19: 38,905,232 (GRCm39) L649* probably null Het
Trpm3 G A 19: 22,744,120 (GRCm39) G238R probably damaging Het
Yy1 C A 12: 108,759,663 (GRCm39) Q109K probably 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
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
Predicted Primers PCR Primer
(F):5'- GGCAGTATAAAAGCACTGTGC -3'
(R):5'- CCTTATCCCGAGATACATGTGAAGTG -3'

Sequencing Primer
(F):5'- GCACTGTGCACATAATAAATTGGAC -3'
(R):5'- AACCTTCTGCCCAGAGT -3'
Posted On 2016-06-06