Incidental Mutation 'R3617:Ndufa9'
| ID |
268475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufa9
|
| Ensembl Gene |
ENSMUSG00000000399 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit A9 |
| Synonyms |
1010001N11Rik |
| MMRRC Submission |
040674-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3617 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126798826-126826107 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 126826071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088194]
[ENSMUST00000095440]
[ENSMUST00000202574]
[ENSMUST00000202878]
[ENSMUST00000205002]
|
| AlphaFold |
Q9DC69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088194
|
| SMART Domains |
Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
| 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 |
probably benign
Transcript: ENSMUST00000095440
|
| SMART Domains |
Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202574
|
| SMART Domains |
Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202878
|
| SMART Domains |
Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205002
AA Change: A2E
|
| SMART Domains |
Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: A2E
| 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 |
|
| Meta Mutation Damage Score |
0.1052 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
| Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
| Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
| Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
| Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
| Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
| Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
| Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
| Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
| Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
| Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
probably benign |
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 |
|
|
IGL03186:Ndufa9
|
APN |
6 |
126,821,855 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGCACTATCTCGAACCTGTC -3'
(R):5'- GGGACTGTATTTTCCCCTGC -3'
Sequencing Primer
(F):5'- AACCTGTCAGTGTCCGGGTTC -3'
(R):5'- GACTGTATTTTCCCCTGCCTTCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation