Incidental Mutation 'R2083:Etfb'
ID 230148
Institutional Source Beutler Lab
Gene Symbol Etfb
Ensembl Gene ENSMUSG00000004610
Gene Name electron transferring flavoprotein, beta polypeptide
Synonyms 0610009I16Rik, 2810441H06Rik
MMRRC Submission 040088-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.746) question?
Stock # R2083 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43444083-43457800 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43456500 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 101 (T101A)
Ref Sequence ENSEMBL: ENSMUSP00000145608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286]
AlphaFold Q9DCW4
Predicted Effect probably benign
Transcript: ENSMUST00000004729
AA Change: T154A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610
AA Change: T154A

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 probably benign
Transcript: ENSMUST00000203633
AA Change: T154A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482
AA Change: T154A

DomainStartEndE-ValueType
ETF 26 216 2.7e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204680
SMART Domains Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482

DomainStartEndE-ValueType
ETF 26 168 2.4e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205363
Predicted Effect probably benign
Transcript: ENSMUST00000206196
AA Change: T154A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206286
AA Change: T101A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect unknown
Transcript: ENSMUST00000206411
AA Change: T153A
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T A 5: 146,184,871 M73L possibly damaging Het
AA986860 A T 1: 130,741,069 I58F probably damaging Het
Acsl3 A T 1: 78,699,811 K507N probably damaging Het
Adcy3 T C 12: 4,173,512 Y245H probably damaging Het
Adgra1 T C 7: 139,875,631 S392P probably damaging Het
Ahnak C T 19: 9,011,557 P3402S probably damaging Het
Ambra1 T A 2: 91,766,600 I12N possibly damaging Het
Atp10b A G 11: 43,212,423 T545A probably benign Het
Atxn2 G T 5: 121,784,006 A638S probably benign Het
Cd109 T C 9: 78,667,293 S520P probably damaging Het
Col6a3 T C 1: 90,782,011 D1821G unknown Het
Cyp4a10 T C 4: 115,525,308 V265A possibly damaging Het
Dmrtb1 C T 4: 107,683,612 R184Q possibly damaging Het
Dnah7b A T 1: 46,241,067 I2719F possibly damaging Het
En2 T C 5: 28,167,073 S183P probably damaging Het
Etl4 T A 2: 20,743,549 S364T probably damaging Het
Fam196b A G 11: 34,402,141 D61G probably benign Het
Gm17728 C A 17: 9,422,289 S77Y possibly damaging Het
Golga4 A G 9: 118,532,590 E221G probably damaging Het
Gpr37 T C 6: 25,688,417 N227S possibly damaging Het
Kctd1 A T 18: 14,974,055 N784K possibly damaging Het
Klhl22 A G 16: 17,776,525 T173A probably benign Het
Ly6e T A 15: 74,958,319 C41S probably damaging Het
Mapkbp1 T C 2: 120,015,482 L444P possibly damaging Het
Mkx A T 18: 6,992,855 I143K probably damaging Het
Mlh3 A G 12: 85,269,041 F124L probably benign Het
Nlrp1a A T 11: 71,124,220 L68H possibly damaging Het
Obscn A C 11: 59,073,631 Y726* probably null Het
Olfr1312 C T 2: 112,042,553 V160I probably benign Het
Olfr26 T G 9: 38,855,341 V93G probably benign Het
Peak1 G A 9: 56,258,949 S565L probably damaging Het
Pter T A 2: 12,978,436 L84Q probably damaging Het
Ptpn4 A G 1: 119,687,759 L555P possibly damaging Het
Rpp40 A T 13: 35,898,992 M171K probably benign Het
Sacs A G 14: 61,206,506 I2000M possibly damaging Het
Scn5a T C 9: 119,492,123 I1458V probably benign Het
Slc38a4 T C 15: 97,008,993 D288G probably benign Het
Slc8a2 T G 7: 16,134,515 V224G probably damaging Het
Sptbn4 T C 7: 27,428,256 E173G probably benign Het
Tas1r1 T A 4: 152,028,391 H735L probably benign Het
Trps1 G T 15: 50,822,305 Q155K probably damaging Het
Tspyl5 T C 15: 33,686,746 H351R probably damaging Het
Ttf2 A T 3: 100,969,501 D21E probably benign Het
Ttll7 A G 3: 146,930,104 R398G possibly damaging Het
Tubgcp6 A T 15: 89,122,376 Y148N probably damaging Het
Vmn1r8 T A 6: 57,036,340 H125Q probably benign Het
Zfhx4 A G 3: 5,403,163 T2794A possibly damaging Het
Zfp27 T C 7: 29,894,783 I586V probably benign Het
Zfyve16 T C 13: 92,524,262 D13G probably damaging Het
Other mutations in Etfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Etfb APN 7 43452959 critical splice donor site probably null
IGL01782:Etfb APN 7 43454542 missense probably damaging 0.97
IGL03264:Etfb APN 7 43452473 missense probably damaging 1.00
R0547:Etfb UTSW 7 43454578 nonsense probably null
R1999:Etfb UTSW 7 43454563 missense probably benign 0.01
R4229:Etfb UTSW 7 43456560 missense probably damaging 1.00
R4731:Etfb UTSW 7 43444200 missense probably damaging 1.00
R4732:Etfb UTSW 7 43444200 missense probably damaging 1.00
R4733:Etfb UTSW 7 43444200 missense probably damaging 1.00
R6366:Etfb UTSW 7 43452941 missense probably damaging 1.00
R6993:Etfb UTSW 7 43456554 missense possibly damaging 0.88
R7493:Etfb UTSW 7 43454576 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACCAGAGTTTGCAGTG -3'
(R):5'- CATCCAATCACTGAGGAGGCAC -3'

Sequencing Primer
(F):5'- CACCAGAGTTTGCAGTGCTGTG -3'
(R):5'- TCACTGAGGAGGCACCAAGTC -3'
Posted On 2014-09-18