Incidental Mutation 'IGL01420:Nadk2'
ID |
80383 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nadk2
|
Ensembl Gene |
ENSMUSG00000022253 |
Gene Name |
NAD kinase 2, mitochondrial |
Synonyms |
1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01420
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
9071340-9110584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9103072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 308
(S308P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
[ENSMUST00000188194]
|
AlphaFold |
Q8C5H8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067760
AA Change: S330P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068318 Gene: ENSMUSG00000022253 AA Change: S330P
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
Pfam:NAD_kinase
|
58 |
334 |
4.7e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100789
AA Change: S279P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098353 Gene: ENSMUSG00000022253 AA Change: S279P
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
Pfam:NAD_kinase
|
58 |
171 |
8.2e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100790
AA Change: S308P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098354 Gene: ENSMUSG00000022253 AA Change: S308P
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
Pfam:NAD_kinase
|
58 |
312 |
3.9e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189211
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228453
|
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 mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Mice homozygous for knock-out allele exhibit increased serum lysine and carnitine levels, develop increased reactive oxygen species levels and hepatic steatosis on an atherogenic high-fat diet, and show impaired fasting-induced fatty acid oxidation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Gene trapped(10) |
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,920,637 (GRCm39) |
|
probably benign |
Het |
Actr6 |
A |
T |
10: 89,561,027 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,850,916 (GRCm39) |
M541K |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,106,785 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
C |
11: 54,883,189 (GRCm39) |
Y481C |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,748,292 (GRCm39) |
I371F |
possibly damaging |
Het |
Arhgef10l |
T |
C |
4: 140,297,649 (GRCm39) |
D261G |
probably damaging |
Het |
Bche |
T |
C |
3: 73,609,342 (GRCm39) |
H28R |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,104,065 (GRCm39) |
V2026A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,773,595 (GRCm39) |
V1697I |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,301,079 (GRCm39) |
H2738R |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,718,389 (GRCm39) |
|
probably null |
Het |
Cep152 |
A |
T |
2: 125,405,572 (GRCm39) |
D1653E |
possibly damaging |
Het |
Cfap57 |
T |
A |
4: 118,470,137 (GRCm39) |
I248F |
probably benign |
Het |
Clcnka |
C |
A |
4: 141,116,643 (GRCm39) |
R536L |
probably benign |
Het |
Dao |
T |
A |
5: 114,161,881 (GRCm39) |
|
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,175,367 (GRCm39) |
S585P |
possibly damaging |
Het |
Dysf |
C |
T |
6: 84,126,741 (GRCm39) |
Q1333* |
probably null |
Het |
Eps8l2 |
T |
A |
7: 140,937,576 (GRCm39) |
S397T |
probably benign |
Het |
Fap |
A |
G |
2: 62,334,846 (GRCm39) |
|
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,036,822 (GRCm39) |
T971A |
probably benign |
Het |
Fbxl17 |
C |
T |
17: 63,692,047 (GRCm39) |
V22M |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,558 (GRCm39) |
M457K |
probably benign |
Het |
Fundc2 |
T |
C |
X: 74,434,471 (GRCm39) |
|
probably benign |
Het |
Heyl |
C |
A |
4: 123,133,967 (GRCm39) |
Q42K |
probably damaging |
Het |
Hyal4 |
A |
G |
6: 24,755,871 (GRCm39) |
K30E |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,071 (GRCm39) |
I2201V |
probably benign |
Het |
Il34 |
T |
C |
8: 111,469,345 (GRCm39) |
K157E |
probably damaging |
Het |
Kcnj13 |
T |
C |
1: 87,316,766 (GRCm39) |
T116A |
probably damaging |
Het |
Lpl |
T |
C |
8: 69,340,085 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
A |
G |
1: 128,273,612 (GRCm39) |
L406P |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
Nae1 |
G |
T |
8: 105,249,797 (GRCm39) |
Q225K |
probably benign |
Het |
Ncoa6 |
G |
A |
2: 155,249,507 (GRCm39) |
P1266S |
probably damaging |
Het |
Neb |
A |
G |
2: 52,047,389 (GRCm39) |
Y6485H |
probably damaging |
Het |
Nin |
G |
A |
12: 70,092,188 (GRCm39) |
A707V |
probably benign |
Het |
Nmur1 |
T |
C |
1: 86,315,113 (GRCm39) |
T218A |
probably benign |
Het |
Npr3 |
T |
C |
15: 11,858,718 (GRCm39) |
N135D |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,620,926 (GRCm39) |
L142Q |
probably damaging |
Het |
Pdgfc |
T |
A |
3: 81,048,750 (GRCm39) |
S53T |
probably benign |
Het |
Plxdc2 |
T |
A |
2: 16,654,950 (GRCm39) |
V232D |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,792,377 (GRCm39) |
N493D |
possibly damaging |
Het |
Rtel1 |
T |
C |
2: 180,996,194 (GRCm39) |
I750T |
probably benign |
Het |
Sbk1 |
A |
G |
7: 125,891,184 (GRCm39) |
|
probably null |
Het |
Sec24d |
A |
G |
3: 123,143,658 (GRCm39) |
N603S |
probably benign |
Het |
Slc38a10 |
T |
A |
11: 119,997,286 (GRCm39) |
E736V |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,341,659 (GRCm39) |
Y559C |
probably benign |
Het |
Sprr4 |
A |
T |
3: 92,407,691 (GRCm39) |
V37E |
unknown |
Het |
Sptbn2 |
A |
G |
19: 4,784,153 (GRCm39) |
T632A |
probably benign |
Het |
Trim31 |
A |
G |
17: 37,209,303 (GRCm39) |
M20V |
probably benign |
Het |
Trim65 |
C |
A |
11: 116,017,335 (GRCm39) |
V376L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,542,420 (GRCm39) |
D25195G |
probably damaging |
Het |
Tysnd1 |
A |
G |
10: 61,537,830 (GRCm39) |
T503A |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,390,200 (GRCm39) |
I9L |
probably benign |
Het |
Zfp398 |
A |
G |
6: 47,842,868 (GRCm39) |
M175V |
probably benign |
Het |
|
Other mutations in Nadk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
tabak
|
UTSW |
15 |
9,108,342 (GRCm39) |
missense |
probably damaging |
0.99 |
D4043:Nadk2
|
UTSW |
15 |
9,103,473 (GRCm39) |
splice site |
probably benign |
|
PIT4131001:Nadk2
|
UTSW |
15 |
9,100,232 (GRCm39) |
frame shift |
probably null |
|
PIT4142001:Nadk2
|
UTSW |
15 |
9,100,232 (GRCm39) |
frame shift |
probably null |
|
R0347:Nadk2
|
UTSW |
15 |
9,084,287 (GRCm39) |
missense |
probably benign |
0.08 |
R0838:Nadk2
|
UTSW |
15 |
9,091,322 (GRCm39) |
missense |
probably benign |
0.00 |
R0988:Nadk2
|
UTSW |
15 |
9,103,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R1014:Nadk2
|
UTSW |
15 |
9,091,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Nadk2
|
UTSW |
15 |
9,106,925 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1387:Nadk2
|
UTSW |
15 |
9,106,870 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1861:Nadk2
|
UTSW |
15 |
9,108,399 (GRCm39) |
missense |
probably benign |
0.21 |
R1886:Nadk2
|
UTSW |
15 |
9,103,446 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2354:Nadk2
|
UTSW |
15 |
9,085,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3623:Nadk2
|
UTSW |
15 |
9,084,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R3624:Nadk2
|
UTSW |
15 |
9,084,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Nadk2
|
UTSW |
15 |
9,092,810 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4867:Nadk2
|
UTSW |
15 |
9,098,946 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5314:Nadk2
|
UTSW |
15 |
9,108,401 (GRCm39) |
missense |
probably benign |
0.04 |
R7214:Nadk2
|
UTSW |
15 |
9,108,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R7244:Nadk2
|
UTSW |
15 |
9,083,271 (GRCm39) |
splice site |
probably null |
|
R7310:Nadk2
|
UTSW |
15 |
9,103,469 (GRCm39) |
critical splice donor site |
probably null |
|
R7634:Nadk2
|
UTSW |
15 |
9,092,935 (GRCm39) |
missense |
probably benign |
0.41 |
R8310:Nadk2
|
UTSW |
15 |
9,103,420 (GRCm39) |
missense |
probably benign |
|
R8424:Nadk2
|
UTSW |
15 |
9,083,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9265:Nadk2
|
UTSW |
15 |
9,071,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:Nadk2
|
UTSW |
15 |
9,103,449 (GRCm39) |
nonsense |
probably null |
|
R9746:Nadk2
|
UTSW |
15 |
9,106,824 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-11-05 |