Incidental Mutation 'IGL02793:Ndufa10'
| ID |
359851 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufa10
|
| Ensembl Gene |
ENSMUSG00000026260 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit A10 |
| Synonyms |
2900053E13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92367208-92401547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92397639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 136
(Y136D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027478]
[ENSMUST00000185251]
[ENSMUST00000189503]
|
| AlphaFold |
Q99LC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027478
AA Change: Y136D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027478
Gene: ENSMUSG00000026260
AA Change: Y136D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
Pfam:dNK
|
60 |
287 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185251
AA Change: Y54D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189503
|
| SMART Domains |
Protein: ENSMUSP00000140576
Gene: ENSMUSG00000026260
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189582
|
| 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 is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
| Bco2 |
A |
T |
9: 50,455,834 (GRCm39) |
V173E |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
| Cdh15 |
T |
A |
8: 123,587,721 (GRCm39) |
V215E |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,144 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,156,648 (GRCm39) |
D143N |
probably damaging |
Het |
| Fabp3-ps1 |
T |
A |
10: 86,567,943 (GRCm39) |
|
probably benign |
Het |
| Gid4 |
G |
A |
11: 60,323,256 (GRCm39) |
R116Q |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,564,821 (GRCm39) |
E34G |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,734,378 (GRCm39) |
K104* |
probably null |
Het |
| Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,962,072 (GRCm39) |
M1499V |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
| Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
| Lrrc2 |
T |
C |
9: 110,808,695 (GRCm39) |
|
probably null |
Het |
| Map2k5 |
T |
C |
9: 63,164,321 (GRCm39) |
I328V |
probably benign |
Het |
| Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
A |
G |
2: 156,791,952 (GRCm39) |
|
probably null |
Het |
| Or10ak9 |
A |
T |
4: 118,726,794 (GRCm39) |
D271V |
probably damaging |
Het |
| Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,372,802 (GRCm39) |
E22G |
probably benign |
Het |
| Rab18 |
T |
C |
18: 6,788,474 (GRCm39) |
|
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,860,005 (GRCm39) |
L1025P |
probably damaging |
Het |
| Rtca |
A |
G |
3: 116,286,726 (GRCm39) |
F302S |
probably damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,464,828 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
| Sval2 |
A |
C |
6: 41,838,795 (GRCm39) |
Y11S |
probably benign |
Het |
| Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
| Tlr4 |
A |
C |
4: 66,757,681 (GRCm39) |
H158P |
probably damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,207,576 (GRCm39) |
E927G |
probably damaging |
Het |
| Yap1 |
T |
C |
9: 7,973,907 (GRCm39) |
N178S |
probably benign |
Het |
|
| Other mutations in Ndufa10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03116:Ndufa10
|
APN |
1 |
92,392,109 (GRCm39) |
nonsense |
probably null |
|
|
R0136:Ndufa10
|
UTSW |
1 |
92,390,850 (GRCm39) |
nonsense |
probably null |
|
|
R0627:Ndufa10
|
UTSW |
1 |
92,397,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Ndufa10
|
UTSW |
1 |
92,367,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2025:Ndufa10
|
UTSW |
1 |
92,367,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2026:Ndufa10
|
UTSW |
1 |
92,367,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4694:Ndufa10
|
UTSW |
1 |
92,379,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4895:Ndufa10
|
UTSW |
1 |
92,397,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Ndufa10
|
UTSW |
1 |
92,390,042 (GRCm39) |
missense |
probably benign |
|
|
R5785:Ndufa10
|
UTSW |
1 |
92,388,096 (GRCm39) |
splice site |
probably null |
|
|
R7011:Ndufa10
|
UTSW |
1 |
92,398,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7383:Ndufa10
|
UTSW |
1 |
92,392,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7868:Ndufa10
|
UTSW |
1 |
92,388,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8290:Ndufa10
|
UTSW |
1 |
92,390,869 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8431:Ndufa10
|
UTSW |
1 |
92,379,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8885:Ndufa10
|
UTSW |
1 |
92,397,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9410:Ndufa10
|
UTSW |
1 |
92,367,614 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9758:Ndufa10
|
UTSW |
1 |
92,379,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9789:Ndufa10
|
UTSW |
1 |
92,397,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-12-18 |
Incidental Mutation