Incidental Mutation 'R6366:Etfb'
ID 512689
Institutional Source Beutler Lab
Gene Symbol Etfb
Ensembl Gene ENSMUSG00000004610
Gene Name electron transferring flavoprotein, beta polypeptide
Synonyms 2810441H06Rik, 0610009I16Rik
MMRRC Submission 044516-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # R6366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43093507-43107224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43102365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 119 (L119S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286]
AlphaFold Q9DCW4
Predicted Effect probably benign
Transcript: ENSMUST00000004729
AA Change: L120S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610
AA Change: L120S

DomainStartEndE-ValueType
ETF 26 218 4.15e-67 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184167
Predicted Effect possibly damaging
Transcript: ENSMUST00000203633
AA Change: L120S

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482
AA Change: L120S

DomainStartEndE-ValueType
ETF 26 216 2.7e-65 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204680
AA Change: L120S

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482
AA Change: L120S

DomainStartEndE-ValueType
ETF 26 168 2.4e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205363
AA Change: L17S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000206196
AA Change: L120S

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000206411
AA Change: L119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206666
Predicted Effect probably benign
Transcript: ENSMUST00000206286
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.0%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants 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
Agl A G 3: 116,584,766 (GRCm39) F185L probably damaging Het
Ank3 A G 10: 69,835,188 (GRCm39) D131G probably damaging Het
Boc T C 16: 44,308,015 (GRCm39) K947E probably benign Het
Ccdc110 A G 8: 46,396,425 (GRCm39) E772G probably damaging Het
Ccdc7a A G 8: 129,582,473 (GRCm39) V1055A unknown Het
Chd1l A G 3: 97,501,476 (GRCm39) V190A probably benign Het
Chl1 C A 6: 103,706,197 (GRCm39) N396K possibly damaging Het
CN725425 T G 15: 91,131,124 (GRCm39) Y420D possibly damaging Het
Col6a1 A T 10: 76,546,804 (GRCm39) I806N unknown Het
Csmd2 A G 4: 128,377,245 (GRCm39) K2042E probably benign Het
Eif4a1 G T 11: 69,561,781 (GRCm39) D15E probably benign Het
Fbxo42 T A 4: 140,927,260 (GRCm39) S513R probably benign Het
Gys2 C A 6: 142,409,120 (GRCm39) C45F probably benign Het
Hspa1a G A 17: 35,189,500 (GRCm39) P468S probably damaging Het
Kdm2a G T 19: 4,374,960 (GRCm39) Q724K probably benign Het
Lama3 G T 18: 12,615,194 (GRCm39) G1373W probably damaging Het
Lhx1 A T 11: 84,413,034 (GRCm39) F84Y probably damaging Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrc7 T C 3: 157,841,012 (GRCm39) Q1389R probably benign Het
Lrtm2 T C 6: 119,294,238 (GRCm39) R298G probably damaging Het
Ltv1 A G 10: 13,056,739 (GRCm39) V268A probably benign Het
Mgat4d T A 8: 84,095,580 (GRCm39) probably null Het
Mknk2 C A 10: 80,507,767 (GRCm39) R33L probably damaging Het
Ms4a1 A G 19: 11,236,062 (GRCm39) S42P probably damaging Het
Muc16 T C 9: 18,557,340 (GRCm39) I2984M unknown Het
Mup12 A C 4: 60,696,657 (GRCm39) F74V probably damaging Het
Nacad A C 11: 6,551,196 (GRCm39) L665R probably benign Het
Pde6a T A 18: 61,398,142 (GRCm39) probably null Het
Plb1 A G 5: 32,471,429 (GRCm39) N579D possibly damaging Het
Podn T A 4: 107,876,001 (GRCm39) I552F possibly damaging Het
Potefam1 A G 2: 110,999,937 (GRCm39) probably null Het
Pramel32 T A 4: 88,547,102 (GRCm39) I106F probably damaging Het
Prl3b1 A T 13: 27,427,875 (GRCm39) M62L probably benign Het
Ptpn13 G T 5: 103,698,919 (GRCm39) R1134L probably damaging Het
Rpl37 T A 15: 5,147,990 (GRCm39) probably null Het
Samd4 T A 14: 47,311,607 (GRCm39) probably null Het
Sh3rf2 T C 18: 42,286,130 (GRCm39) V541A probably benign Het
Shcbp1 A G 8: 4,799,380 (GRCm39) V335A probably damaging Het
Slc7a7 T C 14: 54,612,057 (GRCm39) Y282C probably damaging Het
Spag7 T C 11: 70,555,418 (GRCm39) K125E possibly damaging Het
Spata31e4 T C 13: 50,855,972 (GRCm39) Y537H probably benign Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Stab1 T C 14: 30,863,395 (GRCm39) K2097R probably benign Het
Stk38 A G 17: 29,193,338 (GRCm39) W364R probably benign Het
Tectb G A 19: 55,170,350 (GRCm39) G67D probably damaging Het
Ttll9 G T 2: 152,833,525 (GRCm39) D208Y probably damaging Het
Tyro3 G A 2: 119,647,156 (GRCm39) D758N probably damaging Het
Tyw1 T C 5: 130,310,792 (GRCm39) probably benign Het
Unc5b C T 10: 60,614,091 (GRCm39) A253T probably benign Het
Wtap A T 17: 13,186,945 (GRCm39) probably null Het
Other mutations in Etfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Etfb APN 7 43,102,383 (GRCm39) critical splice donor site probably null
IGL01782:Etfb APN 7 43,103,966 (GRCm39) missense probably damaging 0.97
IGL03264:Etfb APN 7 43,101,897 (GRCm39) missense probably damaging 1.00
R0547:Etfb UTSW 7 43,104,002 (GRCm39) nonsense probably null
R1999:Etfb UTSW 7 43,103,987 (GRCm39) missense probably benign 0.01
R2083:Etfb UTSW 7 43,105,924 (GRCm39) missense probably benign 0.00
R4229:Etfb UTSW 7 43,105,984 (GRCm39) missense probably damaging 1.00
R4731:Etfb UTSW 7 43,093,624 (GRCm39) missense probably damaging 1.00
R4732:Etfb UTSW 7 43,093,624 (GRCm39) missense probably damaging 1.00
R4733:Etfb UTSW 7 43,093,624 (GRCm39) missense probably damaging 1.00
R6993:Etfb UTSW 7 43,105,978 (GRCm39) missense possibly damaging 0.88
R7493:Etfb UTSW 7 43,104,000 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGTCTAGTTAACTGCTCTGCCC -3'
(R):5'- ATTGCTGGATGCCCAACTGG -3'

Sequencing Primer
(F):5'- GCCCTCTTCAGGAGACCATC -3'
(R):5'- CTGGCCAAAAGCATGTTTCTGAC -3'
Posted On 2018-04-27