Incidental Mutation 'R3040:Etfdh'
| ID |
264912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etfdh
|
| Ensembl Gene |
ENSMUSG00000027809 |
| Gene Name |
electron transferring flavoprotein, dehydrogenase |
| Synonyms |
0610010I20Rik |
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79511095-79536074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79512226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 498
(R498Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029382]
[ENSMUST00000029386]
[ENSMUST00000120992]
|
| AlphaFold |
Q921G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029382
|
| SMART Domains |
Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
19 |
183 |
1.5e-49 |
PFAM |
|
low complexity region
|
208 |
222 |
N/A |
INTRINSIC |
|
TPR
|
223 |
256 |
1.78e-1 |
SMART |
|
TPR
|
273 |
306 |
2.59e-3 |
SMART |
|
TPR
|
307 |
340 |
2.82e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029386
AA Change: R558Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: R558Q
| 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: R498Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: R498Q
| 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: ENSMUST00000160799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161460
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
| Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
| Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
| Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
probably benign |
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 |
|
IGL02816:Etfdh
|
APN |
3 |
79,530,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGTTTGGAGATAAGTCATCC -3'
(R):5'- AGGCTCAGACTCTGATCAGC -3'
Sequencing Primer
(F):5'- GTCATCCAAAGTAGAGAAGACCTCAG -3'
(R):5'- GCCAAGGATTGTACACCCATTGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation