Incidental Mutation 'IGL00902:Ndufs7'
| ID |
28304 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufs7
|
| Ensembl Gene |
ENSMUSG00000020153 |
| Gene Name |
NADH:ubiquinone oxidoreductase core subunit S7 |
| Synonyms |
1010001M04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80084955-80092628 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 80091839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 190
(Y190*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020359]
[ENSMUST00000020361]
[ENSMUST00000105363]
[ENSMUST00000105364]
|
| AlphaFold |
Q9DC70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020359
|
| SMART Domains |
Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XCL|A
|
2 |
252 |
1e-151 |
PDB |
|
SCOP:d1khha_
|
44 |
252 |
3e-32 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020361
AA Change: Y190*
|
| SMART Domains |
Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153
AA Change: Y190*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
Pfam:Oxidored_q6
|
98 |
208 |
1.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105363
|
| SMART Domains |
Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XCL|A
|
2 |
236 |
1e-155 |
PDB |
|
SCOP:d1khha_
|
44 |
236 |
2e-34 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105364
AA Change: Y190*
|
| SMART Domains |
Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153
AA Change: Y190*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
Pfam:Oxidored_q6
|
98 |
208 |
1.9e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152939
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157063
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
G |
9: 90,070,847 (GRCm39) |
|
probably null |
Het |
| Akap11 |
A |
G |
14: 78,733,278 (GRCm39) |
S1876P |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,095,494 (GRCm39) |
G1001D |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,870,281 (GRCm39) |
I256V |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,400,568 (GRCm39) |
H262L |
possibly damaging |
Het |
| Col22a1 |
C |
A |
15: 71,836,508 (GRCm39) |
G509V |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,607,124 (GRCm39) |
F523S |
probably damaging |
Het |
| Dbnl |
G |
T |
11: 5,748,105 (GRCm39) |
A313S |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,523,550 (GRCm39) |
V180A |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,819,844 (GRCm39) |
M200V |
possibly damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Gm9104 |
T |
C |
17: 45,776,940 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,050,443 (GRCm39) |
V303I |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,919,245 (GRCm39) |
C1469Y |
probably damaging |
Het |
| Igflr1 |
T |
C |
7: 30,266,700 (GRCm39) |
S183P |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,738 (GRCm39) |
V1001A |
probably benign |
Het |
| Itih1 |
G |
A |
14: 30,654,439 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,774 (GRCm39) |
N1220S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,485,124 (GRCm39) |
Y434H |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,408,310 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,133 (GRCm39) |
A197D |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,944,704 (GRCm39) |
L435Q |
probably damaging |
Het |
| Mss51 |
A |
C |
14: 20,536,235 (GRCm39) |
M160R |
probably damaging |
Het |
| Or6c38 |
T |
A |
10: 128,929,265 (GRCm39) |
I193L |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,461 (GRCm39) |
M202T |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,684,289 (GRCm39) |
E252G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,631 (GRCm39) |
V151A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,055,258 (GRCm39) |
T481A |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,755,323 (GRCm39) |
T477A |
probably benign |
Het |
| Smg5 |
G |
A |
3: 88,260,392 (GRCm39) |
V661I |
probably benign |
Het |
| Snx19 |
A |
T |
9: 30,340,028 (GRCm39) |
I389F |
possibly damaging |
Het |
| Spem1 |
A |
T |
11: 69,712,643 (GRCm39) |
I64N |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,755,404 (GRCm39) |
M262K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,316,161 (GRCm39) |
D32G |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,629 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,782,245 (GRCm39) |
P391L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,426 (GRCm39) |
S271G |
probably benign |
Het |
| Wdr64 |
T |
A |
1: 175,556,391 (GRCm39) |
C213S |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,350,844 (GRCm39) |
S194T |
possibly damaging |
Het |
|
| Other mutations in Ndufs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Ndufs7
|
APN |
10 |
80,090,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB007:Ndufs7
|
UTSW |
10 |
80,089,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB017:Ndufs7
|
UTSW |
10 |
80,089,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0539:Ndufs7
|
UTSW |
10 |
80,090,665 (GRCm39) |
splice site |
probably benign |
|
|
R1727:Ndufs7
|
UTSW |
10 |
80,091,853 (GRCm39) |
splice site |
probably benign |
|
|
R3714:Ndufs7
|
UTSW |
10 |
80,088,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4600:Ndufs7
|
UTSW |
10 |
80,092,501 (GRCm39) |
nonsense |
probably null |
|
|
R4603:Ndufs7
|
UTSW |
10 |
80,092,501 (GRCm39) |
nonsense |
probably null |
|
|
R5437:Ndufs7
|
UTSW |
10 |
80,090,758 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7604:Ndufs7
|
UTSW |
10 |
80,089,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7732:Ndufs7
|
UTSW |
10 |
80,089,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7930:Ndufs7
|
UTSW |
10 |
80,089,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8898:Ndufs7
|
UTSW |
10 |
80,089,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation