Incidental Mutation 'R4064:Etfdh'
| ID |
316002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etfdh
|
| Ensembl Gene |
ENSMUSG00000027809 |
| Gene Name |
electron transferring flavoprotein, dehydrogenase |
| Synonyms |
0610010I20Rik |
| MMRRC Submission |
041620-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79511095-79536074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79513098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 435
(E435G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029386
(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 |
possibly damaging
Transcript: ENSMUST00000029386
AA Change: E435G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: E435G
| 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 benign
Transcript: ENSMUST00000120992
AA Change: E375G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: E375G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195767
|
| Meta Mutation Damage Score |
0.4337 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
| Afmid |
A |
G |
11: 117,727,354 (GRCm39) |
T293A |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fosb |
G |
T |
7: 19,039,117 (GRCm39) |
C186* |
probably null |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zscan22 |
C |
T |
7: 12,640,941 (GRCm39) |
T395I |
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 |
|
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 |
|
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 |
|
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'- CCTGAGGTTCCTAACACTACC -3'
(R):5'- ACTGTGCATAAAGCCCCAG -3'
Sequencing Primer
(F):5'- GTTCCTAACACTACCAAAAAGGGGG -3'
(R):5'- GCATAAAGCCCCAGTGCCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation