Incidental Mutation 'R6165:Etfdh'
| ID |
490081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etfdh
|
| Ensembl Gene |
ENSMUSG00000027809 |
| Gene Name |
electron transferring flavoprotein, dehydrogenase |
| Synonyms |
0610010I20Rik |
| MMRRC Submission |
044311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79511095-79536074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79512251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 490
(S490T)
|
| 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 benign
Transcript: ENSMUST00000029386
AA Change: S550T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: S550T
| 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: S490T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: S490T
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
| Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
| Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
| Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
| Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
| Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
| Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
| Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
| Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
| Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
| Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
| Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
| Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
| Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
| Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
|
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'- AAAGCAGTTTGGAGATAAGTCATCC -3'
(R):5'- AGGCTCAGACTCTGATCAGC -3'
Sequencing Primer
(F):5'- GTCATCCAAAGTAGAGAAGACCTCAG -3'
(R):5'- GCTCAAACCAGCCAAGGATTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation