Incidental Mutation 'IGL01782:Etfb'
| ID |
153968 |
| 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 # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43093507-43107224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43103966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 134
(T134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004729]
[ENSMUST00000203633]
[ENSMUST00000204680]
[ENSMUST00000206286]
[ENSMUST00000206196]
|
| AlphaFold |
Q9DCW4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004729
AA Change: T134A
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610
AA Change: T134A
| 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 |
possibly damaging
Transcript: ENSMUST00000203633
AA Change: T134A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
26 |
216 |
2.7e-65 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204680
AA Change: T134A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
26 |
168 |
2.4e-17 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205363
AA Change: T31A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206286
AA Change: T81A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206196
AA Change: T134A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206411
AA Change: T133A
|
| 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 |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
| Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
| Other mutations in Etfb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01571:Etfb
|
APN |
7 |
43,102,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2014-02-04 |
Incidental Mutation