Incidental Mutation 'R5402:Etfa'
ID 430049
Institutional Source Beutler Lab
Gene Symbol Etfa
Ensembl Gene ENSMUSG00000032314
Gene Name electron transferring flavoprotein, alpha polypeptide
Synonyms 2010200I21Rik, D9Ertd394e
MMRRC Submission 042973-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R5402 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 55361792-55419527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55362023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 329 (I329M)
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
AlphaFold Q99LC5
Predicted Effect probably benign
Transcript: ENSMUST00000034866
AA Change: I329M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: I329M

DomainStartEndE-ValueType
ETF 22 203 4.71e-48 SMART
Pfam:ETF_alpha 210 293 6.4e-40 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,607,834 (GRCm39) D4079E probably benign Het
Bcar1 T C 8: 112,440,962 (GRCm39) D344G probably damaging Het
Car9 A G 4: 43,510,213 (GRCm39) N265S probably damaging Het
Ccr7 A G 11: 99,036,560 (GRCm39) S121P possibly damaging Het
Cgnl1 A G 9: 71,536,603 (GRCm39) L1278P probably damaging Het
Chst9 A T 18: 15,585,872 (GRCm39) S230R probably damaging Het
Cped1 G A 6: 22,143,951 (GRCm39) V566M probably benign Het
Csf2 A T 11: 54,138,489 (GRCm39) Y117* probably null Het
Cwf19l1 C T 19: 44,121,524 (GRCm39) probably null Het
Cyp2d34 C T 15: 82,503,287 (GRCm39) G69D probably damaging Het
Dync2h1 A T 9: 7,114,949 (GRCm39) V170E probably damaging Het
Ehbp1l1 T A 19: 5,766,348 (GRCm39) T388S possibly damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fmnl2 G A 2: 53,018,794 (GRCm39) V1078I probably damaging Het
Fnip2 A G 3: 79,388,250 (GRCm39) L797P possibly damaging Het
Gmeb2 A T 2: 180,897,750 (GRCm39) probably null Het
Greb1l A G 18: 10,537,169 (GRCm39) T1045A probably benign Het
Hapln1 A G 13: 89,753,530 (GRCm39) N232S probably benign Het
Hibadh A T 6: 52,523,965 (GRCm39) M311K probably benign Het
Hus1 C T 11: 8,960,240 (GRCm39) probably null Het
Il31ra T C 13: 112,660,669 (GRCm39) E640G probably benign Het
L3mbtl4 T C 17: 68,762,769 (GRCm39) F101L probably damaging Het
Lbr A T 1: 181,647,526 (GRCm39) M417K probably benign Het
Lrig3 T G 10: 125,844,609 (GRCm39) L691R probably damaging Het
Mcm3ap T A 10: 76,319,148 (GRCm39) F792Y probably benign Het
Mst1 T C 9: 107,961,408 (GRCm39) probably null Het
Nova2 C A 7: 18,692,371 (GRCm39) T500K probably damaging Het
Nxph4 A T 10: 127,362,133 (GRCm39) C253S probably damaging Het
Or2t1 T C 14: 14,328,878 (GRCm38) Y256H probably damaging Het
Or4s2b T A 2: 88,508,492 (GRCm39) S98T possibly damaging Het
Pcdhga3 G A 18: 37,808,747 (GRCm39) R400Q probably benign Het
Pidd1 C A 7: 141,018,507 (GRCm39) A915S probably damaging Het
Plat T G 8: 23,262,738 (GRCm39) W148G probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pramel27 G A 4: 143,578,225 (GRCm39) probably null Het
Ptdss1 A G 13: 67,081,663 (GRCm39) D31G possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Samd8 A G 14: 21,825,236 (GRCm39) D64G probably damaging Het
Scgb1b20 A G 7: 33,072,656 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc25a23 T C 17: 57,360,336 (GRCm39) I269V probably benign Het
Slc35f4 A T 14: 49,556,331 (GRCm39) S141T probably damaging Het
Srgap1 T C 10: 121,621,665 (GRCm39) M966V probably benign Het
Syne2 T A 12: 76,106,213 (GRCm39) V5526E probably damaging Het
Tcaf3 A G 6: 42,568,860 (GRCm39) S596P probably benign Het
Tg T A 15: 66,611,017 (GRCm39) I356N probably damaging Het
Ttc6 C T 12: 57,783,817 (GRCm39) R1759* probably null Het
Wdsub1 T C 2: 59,700,822 (GRCm39) N138D probably benign Het
Zfp1001 A G 2: 150,204,886 (GRCm39) I67V probably benign 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
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'- AGAAGCTAGGCATGTTTCTGATAG -3'
(R):5'- TGCCATCTGTGTAGAGGAGAG -3'

Sequencing Primer
(F):5'- GCTAGGCATGTTTCTGATAGTAATC -3'
(R):5'- CCATCTGTGTAGAGGAGAGAGCAAG -3'
Posted On 2016-09-06