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 |
2810441H06Rik, 0610009I16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
IGL01571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43093507-43107224 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 43102383 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
26 |
216 |
2.7e-65 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204680
|
| SMART Domains |
Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
26 |
168 |
2.4e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205363
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206196
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206411
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206286
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
A |
9: 21,450,377 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,705,636 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Ces1f |
T |
A |
8: 93,984,996 (GRCm39) |
M444L |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,468,572 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
A |
11: 76,673,122 (GRCm39) |
Y1341F |
probably damaging |
Het |
| Cryz |
T |
C |
3: 154,327,380 (GRCm39) |
I268T |
probably damaging |
Het |
| Csnk2a1 |
G |
A |
2: 152,117,326 (GRCm39) |
R278H |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,295,354 (GRCm39) |
I487V |
probably benign |
Het |
| Dnajb5 |
T |
C |
4: 42,956,516 (GRCm39) |
|
probably benign |
Het |
| Dxo |
A |
T |
17: 35,058,016 (GRCm39) |
H214L |
probably damaging |
Het |
| G6pc2 |
G |
A |
2: 69,053,311 (GRCm39) |
V122I |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,785,540 (GRCm39) |
D278E |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,670,005 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
A |
C |
3: 3,716,326 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,451,174 (GRCm39) |
D259G |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,020 (GRCm39) |
V92A |
probably damaging |
Het |
| Lypla1 |
T |
C |
1: 4,915,211 (GRCm39) |
I222T |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,461,826 (GRCm39) |
N1510D |
possibly damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,251,281 (GRCm39) |
R229G |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,640,839 (GRCm39) |
V1069M |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,022,031 (GRCm39) |
H528R |
probably benign |
Het |
| Or10p21 |
A |
T |
10: 128,847,696 (GRCm39) |
I181F |
probably damaging |
Het |
| Or4k48 |
C |
A |
2: 111,475,725 (GRCm39) |
V206L |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,671 (GRCm39) |
I222V |
possibly damaging |
Het |
| Pigh |
A |
C |
12: 79,132,634 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,986,150 (GRCm39) |
M1115K |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,388,750 (GRCm39) |
D114G |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Pygb |
T |
C |
2: 150,672,393 (GRCm39) |
S831P |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,736,647 (GRCm39) |
D2260V |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,057,133 (GRCm39) |
S1106P |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,976 (GRCm39) |
|
probably benign |
Het |
| Tekt4 |
A |
G |
17: 25,695,358 (GRCm39) |
D397G |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,770,097 (GRCm39) |
|
probably benign |
Het |
| Upf2 |
T |
C |
2: 6,023,750 (GRCm39) |
|
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,489,588 (GRCm39) |
N445K |
possibly damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,790,373 (GRCm39) |
V211A |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,366 (GRCm39) |
I91M |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,877,635 (GRCm39) |
|
probably benign |
Het |
| Zc3hc1 |
G |
A |
6: 30,390,862 (GRCm39) |
T47I |
probably benign |
Het |
|
| Other mutations in Etfb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation