Incidental Mutation 'R6141:Etfa'
ID 488587
Institutional Source Beutler Lab
Gene Symbol Etfa
Ensembl Gene ENSMUSG00000032314
Gene Name electron transferring flavoprotein, alpha polypeptide
Synonyms 2010200I21Rik, D9Ertd394e
MMRRC Submission 044288-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R6141 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55361792-55419527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55372103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 286 (H286R)
Ref Sequence ENSEMBL: ENSMUSP00000034866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034866]
AlphaFold Q99LC5
Predicted Effect probably damaging
Transcript: ENSMUST00000034866
AA Change: H286R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: H286R

DomainStartEndE-ValueType
ETF 22 203 4.71e-48 SMART
Pfam:ETF_alpha 210 293 6.4e-40 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik A T 7: 42,097,483 (GRCm39) C4S probably damaging Het
Abhd5 A T 9: 122,206,998 (GRCm39) T95S probably benign Het
Ambra1 A T 2: 91,706,099 (GRCm39) N795Y probably damaging Het
Brca2 A G 5: 150,464,102 (GRCm39) N1289D possibly damaging Het
Cavin2 T C 1: 51,340,097 (GRCm39) L258P probably damaging Het
Ccdc110 A G 8: 46,394,807 (GRCm39) T233A possibly damaging Het
Ccdc14 T A 16: 34,526,932 (GRCm39) I279N probably damaging Het
Cntn5 A T 9: 10,144,162 (GRCm39) L169Q probably benign Het
Dbf4 T C 5: 8,458,545 (GRCm39) S157G possibly damaging Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Eepd1 T A 9: 25,394,280 (GRCm39) D181E probably benign Het
Gm44419 T A 6: 65,127,940 (GRCm39) noncoding transcript Het
Gpatch4 C T 3: 87,962,047 (GRCm39) R155* probably null Het
Grik1 T G 16: 87,693,760 (GRCm39) R862S probably benign Het
Hectd1 A C 12: 51,792,875 (GRCm39) probably null Het
Ift122 T C 6: 115,892,972 (GRCm39) W919R probably damaging Het
Iqgap2 A T 13: 95,858,194 (GRCm39) probably null Het
Kcnq4 A T 4: 120,573,066 (GRCm39) I245N probably damaging Het
Map3k3 G T 11: 105,987,874 (GRCm39) R21L probably benign Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Msr1 A T 8: 40,084,360 (GRCm39) V65E probably damaging Het
Myom2 A T 8: 15,113,903 (GRCm39) D17V probably damaging Het
Naaladl1 T A 19: 6,159,785 (GRCm39) probably null Het
Naip6 T C 13: 100,444,741 (GRCm39) Y239C possibly damaging Het
Nckap1 C A 2: 80,360,551 (GRCm39) D533Y probably damaging Het
Ndufs2 T C 1: 171,064,185 (GRCm39) E375G probably damaging Het
Nsd1 T C 13: 55,439,097 (GRCm39) V1605A probably damaging Het
Or4k42 A G 2: 111,320,464 (GRCm39) I13T probably benign Het
Or52ae9 C A 7: 103,389,994 (GRCm39) R151L probably damaging Het
Or5ac17 T A 16: 59,036,916 (GRCm39) H20L probably benign Het
Or5b114-ps1 A T 19: 13,352,647 (GRCm39) Y107F probably benign Het
Or7e176 T A 9: 20,171,754 (GRCm39) M206K probably benign Het
Pcp2 G A 8: 3,673,543 (GRCm39) probably null Het
Pdgfra A G 5: 75,334,057 (GRCm39) S377G probably damaging Het
Reep5 A T 18: 34,505,511 (GRCm39) Y53* probably null Het
Ric1 T C 19: 29,572,842 (GRCm39) S761P probably damaging Het
Satb1 T C 17: 52,082,404 (GRCm39) T417A possibly damaging Het
Slc1a7 T A 4: 107,859,379 (GRCm39) M156K possibly damaging Het
Slc4a10 A G 2: 62,041,789 (GRCm39) E123G probably damaging Het
Slc66a1 A G 4: 139,027,556 (GRCm39) V262A probably benign Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Stard13 A T 5: 150,965,707 (GRCm39) V916E probably damaging Het
Tlr1 T C 5: 65,082,556 (GRCm39) R674G possibly damaging Het
Tnfsf11 A G 14: 78,545,299 (GRCm39) Y11H probably damaging Het
Tnr T A 1: 159,714,692 (GRCm39) V857E probably benign Het
Tubgcp5 A G 7: 55,456,526 (GRCm39) I373V probably benign Het
Ush2a A T 1: 188,090,160 (GRCm39) R414S possibly damaging Het
Vmn2r100 T C 17: 19,742,576 (GRCm39) S317P probably benign Het
Wdr49 A T 3: 75,230,989 (GRCm39) F558I probably benign Het
Zfyve16 A G 13: 92,648,105 (GRCm39) I983T 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
R5402:Etfa UTSW 9 55,362,023 (GRCm39) missense probably benign
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'- TGTGATGAGGTGCCCTTCAC -3'
(R):5'- GCATGATATAAGTGGTGTCTGC -3'

Sequencing Primer
(F):5'- CCCTAACAGTACACTTAAGGCAGGAG -3'
(R):5'- CACATTGATGGTCGAGTGCTAACC -3'
Posted On 2017-10-10