Incidental Mutation 'R2287:Ndufa8'
| ID |
244145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufa8
|
| Ensembl Gene |
ENSMUSG00000026895 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit A8 |
| Synonyms |
0610033L03Rik |
| MMRRC Submission |
040286-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2287 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35926336-35939350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35926554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 161
(A161T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070112]
|
| AlphaFold |
Q9DCJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070112
AA Change: A161T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: A161T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
29 |
N/A |
INTRINSIC |
|
Pfam:CHCH
|
78 |
113 |
3.6e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clec4f |
CTT |
CT |
6: 83,630,247 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
A |
9: 64,214,779 (GRCm39) |
Q930L |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,555,279 (GRCm39) |
K275E |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,097,469 (GRCm39) |
I193V |
possibly damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,528,830 (GRCm39) |
N428S |
possibly damaging |
Het |
| Gtf2h4 |
C |
A |
17: 35,982,117 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,246,317 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,869 (GRCm39) |
L355F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,622,172 (GRCm39) |
I1047T |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,560,458 (GRCm39) |
W169* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,517,001 (GRCm39) |
D94G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,416,182 (GRCm39) |
Y1643* |
probably null |
Het |
| Skint4 |
A |
G |
4: 111,975,402 (GRCm39) |
T121A |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,407,109 (GRCm39) |
I3133V |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trim34a |
T |
A |
7: 103,910,262 (GRCm39) |
S355T |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,603,045 (GRCm39) |
N276H |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,387,163 (GRCm39) |
V1175A |
probably damaging |
Het |
|
| Other mutations in Ndufa8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Ndufa8
|
APN |
2 |
35,934,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02603:Ndufa8
|
APN |
2 |
35,934,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Ndufa8
|
UTSW |
2 |
35,926,634 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2161:Ndufa8
|
UTSW |
2 |
35,926,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Ndufa8
|
UTSW |
2 |
35,926,571 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3002:Ndufa8
|
UTSW |
2 |
35,926,571 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6186:Ndufa8
|
UTSW |
2 |
35,929,752 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7068:Ndufa8
|
UTSW |
2 |
35,934,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8536:Ndufa8
|
UTSW |
2 |
35,939,312 (GRCm39) |
start gained |
probably benign |
|
|
R9558:Ndufa8
|
UTSW |
2 |
35,926,605 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGGAAGTCATCTTTAAAGGC -3'
(R):5'- CAGCAGTCTCAGGGTTACTAC -3'
Sequencing Primer
(F):5'- GGAAGTCATCTTTAAAGGCTAAAAGG -3'
(R):5'- CTCAGGGTTACTACTGTTCAAGAGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation