Incidental Mutation 'IGL03264:Etfb'
ID 415007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etfb
Ensembl Gene ENSMUSG00000004610
Gene Name electron transferring flavoprotein, beta polypeptide
Synonyms 2810441H06Rik, 0610009I16Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # IGL03264
Quality Score
Status
Chromosome 7
Chromosomal Location 43093507-43107224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43101897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 64 (V64F)
Ref Sequence ENSEMBL: ENSMUSP00000145061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286]
AlphaFold Q9DCW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000004729
AA Change: V64F

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610
AA Change: V64F

DomainStartEndE-ValueType
ETF 26 218 4.15e-67 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155468
Predicted Effect probably damaging
Transcript: ENSMUST00000203633
AA Change: V64F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482
AA Change: V64F

DomainStartEndE-ValueType
ETF 26 216 2.7e-65 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204680
AA Change: V64F

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482
AA Change: V64F

DomainStartEndE-ValueType
ETF 26 168 2.4e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205363
Predicted Effect probably damaging
Transcript: ENSMUST00000206196
AA Change: V64F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000206411
AA Change: V63F
Predicted Effect probably benign
Transcript: ENSMUST00000206286
AA Change: V64F

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206666
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T G 17: 31,283,428 (GRCm39) S38A probably benign Het
Alkbh1 T G 12: 87,478,197 (GRCm39) D238A probably damaging Het
Arhgef17 A T 7: 100,529,220 (GRCm39) D1531E probably benign Het
Bltp1 A T 3: 37,056,784 (GRCm39) I3152F probably damaging Het
Cacng3 G T 7: 122,271,180 (GRCm39) G62W probably damaging Het
Cdh22 T C 2: 164,958,093 (GRCm39) I625V probably benign Het
Ces5a T C 8: 94,228,898 (GRCm39) N444S possibly damaging Het
Chst13 A T 6: 90,286,193 (GRCm39) Y256* probably null Het
Clcn5 T A X: 7,044,613 (GRCm39) H177L probably benign Het
Dars1 G A 1: 128,341,427 (GRCm39) R63C probably damaging Het
Dcun1d4 A G 5: 73,677,572 (GRCm39) S84G probably benign Het
Dcxr T C 11: 120,617,298 (GRCm39) N82D probably damaging Het
Eef1a2 C A 2: 180,790,527 (GRCm39) K376N possibly damaging Het
Efhc1 G A 1: 21,037,715 (GRCm39) M297I probably benign Het
Fam135b A C 15: 71,334,637 (GRCm39) N852K probably benign Het
Gigyf2 T C 1: 87,376,790 (GRCm39) probably benign Het
Gria4 T C 9: 4,513,288 (GRCm39) K274E probably benign Het
Irag1 A T 7: 110,525,553 (GRCm39) S200T probably benign Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Med12l C T 3: 59,208,788 (GRCm39) Q2139* probably null Het
Plxna4 A G 6: 32,155,337 (GRCm39) F1536L possibly damaging Het
Pramel19 A T 4: 101,798,329 (GRCm39) Q100L probably damaging Het
Rmnd5a A G 6: 71,370,119 (GRCm39) I389T probably damaging Het
Rnf128 T G X: 138,511,985 (GRCm39) V144G probably damaging Het
Rpgrip1 A G 14: 52,378,109 (GRCm39) T486A possibly damaging Het
Rps6kc1 T C 1: 190,604,026 (GRCm39) T199A probably benign Het
Skint5 T A 4: 113,343,854 (GRCm39) D1338V unknown Het
Slc35g2 A T 9: 100,434,699 (GRCm39) I324K possibly damaging Het
Slc4a5 G A 6: 83,238,507 (GRCm39) R225H probably damaging Het
Srgap3 A T 6: 112,793,636 (GRCm39) H113Q probably damaging Het
Stpg2 A C 3: 139,014,970 (GRCm39) K378N possibly damaging Het
Svep1 A G 4: 58,066,422 (GRCm39) probably benign Het
Utp11 T C 4: 124,573,521 (GRCm39) K218E probably damaging Het
Vmn2r53 T A 7: 12,315,819 (GRCm39) I667F possibly damaging Het
Wdfy3 A G 5: 102,048,016 (GRCm39) L1763P probably damaging Het
Wnt2 A G 6: 17,989,959 (GRCm39) Y313H probably benign Het
Zfp638 T C 6: 83,923,229 (GRCm39) S676P probably benign Het
Zfp747l1 A G 7: 126,984,811 (GRCm39) probably benign 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
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
R6366:Etfb UTSW 7 43,102,365 (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
Posted On 2016-08-02