Incidental Mutation 'R4528:Etfa'
| ID |
333002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etfa
|
| Ensembl Gene |
ENSMUSG00000032314 |
| Gene Name |
electron transferring flavoprotein, alpha polypeptide |
| Synonyms |
2010200I21Rik, D9Ertd394e |
| MMRRC Submission |
041769-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R4528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55361792-55419527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55407334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034866]
|
| AlphaFold |
Q99LC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034866
AA Change: S52P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
22 |
203 |
4.71e-48 |
SMART |
|
Pfam:ETF_alpha
|
210 |
293 |
6.4e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153186
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
| Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
| Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
| Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
| Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
| Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
| Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
| Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
Het |
|
| Other mutations in Etfa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02214:Etfa
|
APN |
9 |
55,372,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Etfa
|
APN |
9 |
55,393,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03068:Etfa
|
APN |
9 |
55,394,766 (GRCm39) |
missense |
probably benign |
|
|
R0944:Etfa
|
UTSW |
9 |
55,396,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Etfa
|
UTSW |
9 |
55,394,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Etfa
|
UTSW |
9 |
55,389,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Etfa
|
UTSW |
9 |
55,403,051 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5055:Etfa
|
UTSW |
9 |
55,407,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Etfa
|
UTSW |
9 |
55,396,150 (GRCm39) |
nonsense |
probably null |
|
|
R5402:Etfa
|
UTSW |
9 |
55,362,023 (GRCm39) |
missense |
probably benign |
|
|
R6141:Etfa
|
UTSW |
9 |
55,372,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6363:Etfa
|
UTSW |
9 |
55,407,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Etfa
|
UTSW |
9 |
55,402,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Etfa
|
UTSW |
9 |
55,403,103 (GRCm39) |
missense |
probably benign |
|
|
R9300:Etfa
|
UTSW |
9 |
55,396,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGCCAGCAGAACAAATC -3'
(R):5'- AGCCCACATGCATAATAGTTATCC -3'
Sequencing Primer
(F):5'- GGCATTCCACCTCATTTTGAAAGAC -3'
(R):5'- GCTCCGTTTTCAGAGTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation