Incidental Mutation 'IGL02816:Etfdh'
| ID |
360807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Etfdh
|
| Ensembl Gene |
ENSMUSG00000027809 |
| Gene Name |
electron transferring flavoprotein, dehydrogenase |
| Synonyms |
0610010I20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79511095-79536074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79530112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 52
(T52M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029386]
[ENSMUST00000120992]
|
| AlphaFold |
Q921G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029386
AA Change: T112M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: T112M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thi4
|
57 |
123 |
5.3e-9 |
PFAM |
|
Pfam:FAD_binding_2
|
69 |
120 |
1.7e-7 |
PFAM |
|
Pfam:Lycopene_cycl
|
69 |
125 |
5.7e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
72 |
122 |
9.7e-8 |
PFAM |
|
Pfam:ETF_QO
|
511 |
614 |
1.1e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120992
AA Change: T52M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: T52M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thi4
|
1 |
63 |
2e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
9 |
59 |
4.7e-8 |
PFAM |
|
Pfam:Pyr_redox_2
|
9 |
209 |
1.7e-7 |
PFAM |
|
Pfam:NAD_binding_9
|
11 |
56 |
2.1e-7 |
PFAM |
|
Pfam:NAD_binding_8
|
12 |
61 |
2.8e-8 |
PFAM |
|
Pfam:ETF_QO
|
402 |
511 |
3e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153039
|
| 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 a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Caskin1 |
C |
A |
17: 24,721,144 (GRCm39) |
P495T |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,298,087 (GRCm39) |
C41R |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,510,497 (GRCm39) |
T386A |
possibly damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,260,830 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,977 (GRCm39) |
D284E |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,578,263 (GRCm39) |
D130G |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,446,608 (GRCm39) |
F785I |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Numa1 |
T |
A |
7: 101,645,307 (GRCm39) |
I311N |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,489 (GRCm39) |
C4010R |
probably benign |
Het |
| Prph |
A |
G |
15: 98,955,301 (GRCm39) |
M423V |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,052 (GRCm39) |
|
probably benign |
Het |
| Ribc2 |
T |
G |
15: 85,017,106 (GRCm39) |
V48G |
probably damaging |
Het |
| Scyl1 |
A |
T |
19: 5,820,410 (GRCm39) |
N141K |
probably damaging |
Het |
| Sec23a |
T |
A |
12: 59,025,331 (GRCm39) |
M497L |
probably benign |
Het |
| Strada |
C |
T |
11: 106,055,251 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
T |
6: 42,192,539 (GRCm39) |
Y93F |
probably benign |
Het |
| Tmem94 |
T |
A |
11: 115,679,530 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
G |
3: 36,705,851 (GRCm39) |
F448S |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,439,415 (GRCm39) |
I113T |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,769 (GRCm39) |
|
probably benign |
Het |
| Ttll13 |
G |
T |
7: 79,902,842 (GRCm39) |
C170F |
possibly damaging |
Het |
| Yes1 |
C |
T |
5: 32,802,451 (GRCm39) |
T122M |
probably damaging |
Het |
|
| Other mutations in Etfdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Etfdh
|
APN |
3 |
79,519,368 (GRCm39) |
splice site |
probably benign |
|
|
IGL02231:Etfdh
|
APN |
3 |
79,525,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02414:Etfdh
|
APN |
3 |
79,511,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4142001:Etfdh
|
UTSW |
3 |
79,517,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Etfdh
|
UTSW |
3 |
79,517,151 (GRCm39) |
missense |
probably benign |
|
|
R0555:Etfdh
|
UTSW |
3 |
79,513,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2255:Etfdh
|
UTSW |
3 |
79,511,349 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3040:Etfdh
|
UTSW |
3 |
79,512,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4035:Etfdh
|
UTSW |
3 |
79,521,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4064:Etfdh
|
UTSW |
3 |
79,513,098 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4693:Etfdh
|
UTSW |
3 |
79,513,110 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4995:Etfdh
|
UTSW |
3 |
79,513,095 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5079:Etfdh
|
UTSW |
3 |
79,525,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Etfdh
|
UTSW |
3 |
79,530,880 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5756:Etfdh
|
UTSW |
3 |
79,521,063 (GRCm39) |
missense |
probably benign |
|
|
R5762:Etfdh
|
UTSW |
3 |
79,523,261 (GRCm39) |
missense |
probably null |
1.00 |
|
R5824:Etfdh
|
UTSW |
3 |
79,517,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Etfdh
|
UTSW |
3 |
79,511,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Etfdh
|
UTSW |
3 |
79,512,251 (GRCm39) |
missense |
probably benign |
|
|
R6185:Etfdh
|
UTSW |
3 |
79,513,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6228:Etfdh
|
UTSW |
3 |
79,519,336 (GRCm39) |
nonsense |
probably null |
|
|
R6993:Etfdh
|
UTSW |
3 |
79,519,338 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7559:Etfdh
|
UTSW |
3 |
79,530,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Etfdh
|
UTSW |
3 |
79,530,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7562:Etfdh
|
UTSW |
3 |
79,530,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Etfdh
|
UTSW |
3 |
79,517,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9366:Etfdh
|
UTSW |
3 |
79,519,271 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2015-12-18 |
Incidental Mutation