Incidental Mutation 'IGL03186:Ndufa9'
| ID |
412482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufa9
|
| Ensembl Gene |
ENSMUSG00000000399 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit A9 |
| Synonyms |
1010001N11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03186
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
126798826-126826107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126821855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088194]
[ENSMUST00000205002]
|
| AlphaFold |
Q9DC69 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088194
AA Change: V36A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: V36A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
Pfam:NmrA
|
56 |
204 |
1.9e-13 |
PFAM |
|
Pfam:Epimerase
|
56 |
264 |
4.7e-11 |
PFAM |
|
Pfam:3Beta_HSD
|
57 |
200 |
1.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205002
AA Change: V40A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: V40A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
Pfam:NmrA
|
56 |
204 |
1.9e-13 |
PFAM |
|
Pfam:Epimerase
|
56 |
264 |
4.7e-11 |
PFAM |
|
Pfam:3Beta_HSD
|
57 |
200 |
1.4e-11 |
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 encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,581,737 (GRCm39) |
I4769T |
possibly damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,740,695 (GRCm39) |
I106T |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,050,545 (GRCm39) |
D476G |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,290,329 (GRCm39) |
K760E |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,143,350 (GRCm39) |
|
probably null |
Het |
| Cep152 |
A |
G |
2: 125,405,895 (GRCm39) |
S1546P |
probably benign |
Het |
| Cimap1c |
T |
G |
9: 56,756,356 (GRCm39) |
N220T |
probably benign |
Het |
| Clock |
T |
C |
5: 76,390,929 (GRCm39) |
H291R |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,411,763 (GRCm39) |
T109A |
probably benign |
Het |
| Igkv1-117 |
T |
C |
6: 68,098,783 (GRCm39) |
Y111H |
probably damaging |
Het |
| Kif20b |
A |
T |
19: 34,912,344 (GRCm39) |
E250V |
probably benign |
Het |
| Mef2c |
A |
G |
13: 83,800,987 (GRCm39) |
N229S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,100,671 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Neurl1a |
T |
A |
19: 47,228,916 (GRCm39) |
F152Y |
probably damaging |
Het |
| Nlrp14 |
G |
T |
7: 106,785,877 (GRCm39) |
C651F |
probably damaging |
Het |
| Or4a2 |
T |
A |
2: 89,248,188 (GRCm39) |
T190S |
probably damaging |
Het |
| Or5ac20 |
A |
T |
16: 59,104,266 (GRCm39) |
V198E |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,033,200 (GRCm39) |
D316E |
probably benign |
Het |
| Pex2 |
C |
A |
3: 5,626,777 (GRCm39) |
A11S |
probably benign |
Het |
| Pitpna |
C |
A |
11: 75,503,076 (GRCm39) |
H137N |
probably benign |
Het |
| Pole |
T |
G |
5: 110,447,786 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
A |
14: 30,380,306 (GRCm39) |
I35N |
possibly damaging |
Het |
| Serpina1e |
T |
C |
12: 103,915,462 (GRCm39) |
H248R |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,432,887 (GRCm39) |
A254T |
probably benign |
Het |
| St3gal3 |
G |
A |
4: 117,797,251 (GRCm39) |
P331S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,602,106 (GRCm39) |
K16773* |
probably null |
Het |
| Zfp687 |
T |
C |
3: 94,918,405 (GRCm39) |
T456A |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,932 (GRCm39) |
I220M |
possibly damaging |
Het |
|
| Other mutations in Ndufa9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Ndufa9
|
APN |
6 |
126,821,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02167:Ndufa9
|
APN |
6 |
126,821,748 (GRCm39) |
splice site |
probably benign |
|
|
IGL02206:Ndufa9
|
APN |
6 |
126,821,366 (GRCm39) |
nonsense |
probably null |
|
|
IGL03356:Ndufa9
|
APN |
6 |
126,821,813 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0310:Ndufa9
|
UTSW |
6 |
126,804,495 (GRCm39) |
splice site |
probably benign |
|
|
R1118:Ndufa9
|
UTSW |
6 |
126,799,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Ndufa9
|
UTSW |
6 |
126,799,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Ndufa9
|
UTSW |
6 |
126,799,154 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2207:Ndufa9
|
UTSW |
6 |
126,821,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Ndufa9
|
UTSW |
6 |
126,821,362 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3617:Ndufa9
|
UTSW |
6 |
126,826,071 (GRCm39) |
unclassified |
probably benign |
|
|
R3623:Ndufa9
|
UTSW |
6 |
126,821,362 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4619:Ndufa9
|
UTSW |
6 |
126,804,498 (GRCm39) |
splice site |
probably null |
|
|
R4855:Ndufa9
|
UTSW |
6 |
126,804,505 (GRCm39) |
nonsense |
probably null |
|
|
R4931:Ndufa9
|
UTSW |
6 |
126,813,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Ndufa9
|
UTSW |
6 |
126,799,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5109:Ndufa9
|
UTSW |
6 |
126,809,520 (GRCm39) |
splice site |
probably null |
|
|
R7373:Ndufa9
|
UTSW |
6 |
126,811,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Ndufa9
|
UTSW |
6 |
126,826,050 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ndufa9
|
UTSW |
6 |
126,821,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation