Incidental Mutation 'IGL01571:Etfb'
ID 93314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etfb
Ensembl Gene ENSMUSG00000004610
Gene Name electron transferring flavoprotein, beta polypeptide
Synonyms 0610009I16Rik, 2810441H06Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.663) question?
Stock # IGL01571
Quality Score
Status
Chromosome 7
Chromosomal Location 43444083-43457800 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 43452959 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286]
AlphaFold Q9DCW4
Predicted Effect probably null
Transcript: ENSMUST00000004729
SMART Domains Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610

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
SMART Domains Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482

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 null
Transcript: ENSMUST00000205363
Predicted Effect probably null
Transcript: ENSMUST00000206196
Predicted Effect probably benign
Transcript: ENSMUST00000206286
Predicted Effect probably null
Transcript: ENSMUST00000206411
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Etfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2083:Etfb UTSW 7 43456500 missense probably benign 0.00
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
Posted On 2013-12-09