Incidental Mutation 'IGL02603:Ndufa8'
| ID |
300160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufa8
|
| Ensembl Gene |
ENSMUSG00000026895 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit A8 |
| Synonyms |
0610033L03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35926336-35939350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35934470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 36
(C36F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028256]
[ENSMUST00000070112]
|
| AlphaFold |
Q9DCJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028256
|
| SMART Domains |
Protein: ENSMUSP00000028256
Gene: ENSMUSG00000026894
| Domain | Start | End | E-Value | Type |
|---|
|
MORN
|
6 |
27 |
1.24e1 |
SMART |
|
MORN
|
29 |
50 |
3.61e-2 |
SMART |
|
Pfam:MORN
|
54 |
75 |
2e-4 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070112
AA Change: C36F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: C36F
| 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 |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,637,071 (GRCm39) |
S3457P |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,526 (GRCm39) |
I63T |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,289 (GRCm39) |
S286P |
possibly damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,280,807 (GRCm39) |
R946H |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,853,873 (GRCm39) |
S232P |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,709,409 (GRCm39) |
R21L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,125,436 (GRCm39) |
|
noncoding transcript |
Het |
| Haao |
T |
A |
17: 84,142,970 (GRCm39) |
D125V |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,657,588 (GRCm39) |
V832A |
probably damaging |
Het |
| Lrrtm4 |
C |
A |
6: 79,999,967 (GRCm39) |
Q460K |
possibly damaging |
Het |
| Lyar |
A |
G |
5: 38,391,405 (GRCm39) |
N368S |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lztr1 |
C |
A |
16: 17,327,550 (GRCm39) |
N84K |
possibly damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,657 (GRCm39) |
V227E |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,404 (GRCm39) |
S119T |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,526,693 (GRCm39) |
S146P |
probably benign |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Spopfm3 |
A |
T |
3: 94,105,744 (GRCm39) |
T21S |
possibly 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 |
|
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 |
|
R2287:Ndufa8
|
UTSW |
2 |
35,926,554 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation