Incidental Mutation 'R4035:Etfdh'
ID 313655
Institutional Source Beutler Lab
Gene Symbol Etfdh
Ensembl Gene ENSMUSG00000027809
Gene Name electron transferring flavoprotein, dehydrogenase
Synonyms 0610010I20Rik
MMRRC Submission 041613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4035 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 79511095-79536074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79521018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 294 (V294I)
Ref Sequence ENSEMBL: ENSMUSP00000029386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029386] [ENSMUST00000120992]
AlphaFold Q921G7
Predicted Effect probably benign
Transcript: ENSMUST00000029386
AA Change: V294I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: V294I

DomainStartEndE-ValueType
Pfam:Thi4 57 123 5.3e-9 PFAM
Pfam:FAD_binding_2 69 120 1.7e-7 PFAM
Pfam:Lycopene_cycl 69 125 5.7e-8 PFAM
Pfam:NAD_binding_8 72 122 9.7e-8 PFAM
Pfam:ETF_QO 511 614 1.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120992
AA Change: V234I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: V234I

DomainStartEndE-ValueType
Pfam:Thi4 1 63 2e-8 PFAM
Pfam:FAD_binding_2 9 59 4.7e-8 PFAM
Pfam:Pyr_redox_2 9 209 1.7e-7 PFAM
Pfam:NAD_binding_9 11 56 2.1e-7 PFAM
Pfam:NAD_binding_8 12 61 2.8e-8 PFAM
Pfam:ETF_QO 402 511 3e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195767
Meta Mutation Damage Score 0.0815 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,879 (GRCm39) F34L probably benign Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ano5 A G 7: 51,216,233 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Bhlhe41 A G 6: 145,808,754 (GRCm39) S353P probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cep350 T C 1: 155,835,541 (GRCm39) T52A probably benign Het
Coro2b A G 9: 62,333,071 (GRCm39) probably benign Het
Ctcf A T 8: 106,390,789 (GRCm39) E132V possibly damaging Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Cxcl2 A T 5: 91,052,272 (GRCm39) Q87L possibly damaging Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Fnip2 C T 3: 79,386,808 (GRCm39) V973I probably benign Het
Fyco1 T C 9: 123,630,348 (GRCm39) T1286A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gsdme A T 6: 50,206,428 (GRCm39) N138K possibly damaging Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Henmt1 T C 3: 108,866,001 (GRCm39) V199A probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Krba1 A G 6: 48,388,614 (GRCm39) N538D probably damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ndst4 C T 3: 125,232,385 (GRCm39) T318M probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 GCA GCACCA 19: 46,069,797 (GRCm39) probably benign Het
Or6d12 A G 6: 116,493,590 (GRCm39) N284S possibly damaging Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Ppfibp1 A G 6: 146,898,334 (GRCm39) K97E probably damaging Het
Pramel26 T A 4: 143,537,026 (GRCm39) D435V probably benign Het
Prpsap1 A T 11: 116,363,834 (GRCm39) M263K probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rttn T C 18: 89,013,777 (GRCm39) V482A probably benign Het
Samsn1 A G 16: 75,706,073 (GRCm39) M1T probably null Het
Scel A G 14: 103,767,440 (GRCm39) N33S probably damaging Het
Sema4g A T 19: 44,989,853 (GRCm39) Y644F probably damaging Het
Slc39a10 G A 1: 46,851,234 (GRCm39) T752M probably damaging Het
Snx27 T C 3: 94,431,551 (GRCm39) D281G probably damaging Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,199 (GRCm39) probably null Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ttn T G 2: 76,740,165 (GRCm39) Q3458P probably benign Het
Ube2z A G 11: 95,951,893 (GRCm39) F152L probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp267 T G 3: 36,218,989 (GRCm39) H337Q possibly damaging Het
Other mutations in Etfdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Etfdh APN 3 79,519,368 (GRCm39) splice site probably benign
IGL02231:Etfdh APN 3 79,525,700 (GRCm39) missense probably damaging 1.00
IGL02414:Etfdh APN 3 79,511,403 (GRCm39) missense probably damaging 0.99
IGL02816:Etfdh APN 3 79,530,112 (GRCm39) missense probably damaging 1.00
PIT4142001:Etfdh UTSW 3 79,517,174 (GRCm39) missense probably damaging 1.00
R0329:Etfdh UTSW 3 79,517,151 (GRCm39) missense probably benign
R0555:Etfdh UTSW 3 79,513,112 (GRCm39) missense probably benign 0.01
R2255:Etfdh UTSW 3 79,511,349 (GRCm39) missense probably benign 0.10
R3040:Etfdh UTSW 3 79,512,226 (GRCm39) missense probably damaging 1.00
R4064:Etfdh UTSW 3 79,513,098 (GRCm39) missense possibly damaging 0.90
R4693:Etfdh UTSW 3 79,513,110 (GRCm39) missense probably damaging 0.97
R4995:Etfdh UTSW 3 79,513,095 (GRCm39) missense probably benign 0.03
R5079:Etfdh UTSW 3 79,525,705 (GRCm39) missense probably damaging 1.00
R5138:Etfdh UTSW 3 79,530,880 (GRCm39) missense probably benign 0.31
R5756:Etfdh UTSW 3 79,521,063 (GRCm39) missense probably benign
R5762:Etfdh UTSW 3 79,523,261 (GRCm39) missense probably null 1.00
R5824:Etfdh UTSW 3 79,517,252 (GRCm39) missense probably damaging 1.00
R5906:Etfdh UTSW 3 79,511,422 (GRCm39) missense probably damaging 1.00
R6165:Etfdh UTSW 3 79,512,251 (GRCm39) missense probably benign
R6185:Etfdh UTSW 3 79,513,114 (GRCm39) missense probably benign 0.00
R6228:Etfdh UTSW 3 79,519,336 (GRCm39) nonsense probably null
R6993:Etfdh UTSW 3 79,519,338 (GRCm39) missense probably benign 0.43
R7559:Etfdh UTSW 3 79,530,886 (GRCm39) missense probably damaging 1.00
R7560:Etfdh UTSW 3 79,530,886 (GRCm39) missense probably damaging 1.00
R7562:Etfdh UTSW 3 79,530,886 (GRCm39) missense probably damaging 1.00
R7937:Etfdh UTSW 3 79,517,123 (GRCm39) missense probably benign 0.00
R9366:Etfdh UTSW 3 79,519,271 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- ACACACTGATAAGTGCAAATGTCAG -3'
(R):5'- GTGACCCACTTCTTTATGTTGG -3'

Sequencing Primer
(F):5'- GTGCAAATGTCAGCTTTCTAATGG -3'
(R):5'- GTTGGTTTAACAGGCAATCATTTG -3'
Posted On 2015-04-30