Incidental Mutation 'IGL01072:Ndufc2'
| ID |
51455 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufc2
|
| Ensembl Gene |
ENSMUSG00000030647 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit C2 |
| Synonyms |
14.5b subunit of the NADH-ubiquinone dehydrogenase complex, G1, 1810004I06Rik, 2010300P09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97049210-97057007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97049490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 32
(V32D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032882]
[ENSMUST00000149122]
|
| AlphaFold |
Q9CQ54 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032882
AA Change: V32D
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032882
Gene: ENSMUSG00000030647
AA Change: V32D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NDUF_C2
|
8 |
120 |
3.4e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149122
AA Change: V32D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,277 (GRCm39) |
M1L |
unknown |
Het |
| Cyp3a44 |
T |
C |
5: 145,728,438 (GRCm39) |
D262G |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,687,098 (GRCm39) |
|
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,888,605 (GRCm39) |
N169S |
probably benign |
Het |
| Fbxw26 |
A |
T |
9: 109,552,905 (GRCm39) |
F290I |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,467,226 (GRCm39) |
M190V |
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,894,519 (GRCm39) |
|
noncoding transcript |
Het |
| Ly75 |
T |
A |
2: 60,184,840 (GRCm39) |
D438V |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,365 (GRCm39) |
E475G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,846,444 (GRCm39) |
Y1375* |
probably null |
Het |
| Nf2 |
A |
C |
11: 4,739,713 (GRCm39) |
L431R |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,802,427 (GRCm39) |
|
probably benign |
Het |
| Ptpn9 |
C |
T |
9: 56,943,987 (GRCm39) |
T287I |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,819,043 (GRCm39) |
D1422G |
probably damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,017 (GRCm39) |
G115C |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,157 (GRCm39) |
V522A |
probably benign |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,434 (GRCm39) |
D31V |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,721,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,300 (GRCm39) |
Y265H |
possibly damaging |
Het |
|
| Other mutations in Ndufc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Ndufc2
|
APN |
7 |
97,049,397 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
FR4589:Ndufc2
|
UTSW |
7 |
97,049,497 (GRCm39) |
missense |
probably benign |
|
|
FR4976:Ndufc2
|
UTSW |
7 |
97,049,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0437:Ndufc2
|
UTSW |
7 |
97,049,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5046:Ndufc2
|
UTSW |
7 |
97,056,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Ndufc2
|
UTSW |
7 |
97,056,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Ndufc2
|
UTSW |
7 |
97,049,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Ndufc2
|
UTSW |
7 |
97,056,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF018:Ndufc2
|
UTSW |
7 |
97,056,228 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation