Incidental Mutation 'R5824:Etfdh'
| ID |
450060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etfdh
|
| Ensembl Gene |
ENSMUSG00000027809 |
| Gene Name |
electron transferring flavoprotein, dehydrogenase |
| Synonyms |
0610010I20Rik |
| MMRRC Submission |
043216-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79511095-79536074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79517252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 379
(P379L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029386]
[ENSMUST00000120992]
|
| AlphaFold |
Q921G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029386
AA Change: P379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: P379L
| 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: P319L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: P319L
| 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: ENSMUST00000195767
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
| Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
| Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
| Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
| Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
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 |
|
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 |
|
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'- GGCCTCTTACTTTACTATGGTAATAGG -3'
(R):5'- ACTGGCCAAAGTCCTAAGC -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- AAGCCTACATGTCCCGCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation