Incidental Mutation 'R0838:Nadk2'
ID |
78068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadk2
|
Ensembl Gene |
ENSMUSG00000022253 |
Gene Name |
NAD kinase 2, mitochondrial |
Synonyms |
1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik |
MMRRC Submission |
039017-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0838 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
9071340-9110584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9091322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 198
(S198T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
|
AlphaFold |
Q8C5H8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067760
AA Change: S198T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000068318 Gene: ENSMUSG00000022253 AA Change: S198T
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 benign
Transcript: ENSMUST00000100789
|
SMART Domains |
Protein: ENSMUSP00000098353 Gene: ENSMUSG00000022253
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 benign
Transcript: ENSMUST00000100790
AA Change: S198T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000098354 Gene: ENSMUSG00000022253 AA Change: S198T
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: ENSMUST00000189211
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227682
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228397
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227928
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,963,535 (GRCm39) |
M53L |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,550,297 (GRCm39) |
N638D |
possibly damaging |
Het |
Amy2b |
T |
C |
3: 113,058,317 (GRCm39) |
|
noncoding transcript |
Het |
Ap5s1 |
G |
A |
2: 131,053,351 (GRCm39) |
R45K |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,049,619 (GRCm39) |
Y994H |
probably damaging |
Het |
Arrdc3 |
A |
T |
13: 81,037,366 (GRCm39) |
|
probably benign |
Het |
Bard1 |
G |
A |
1: 71,069,812 (GRCm39) |
T722M |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,350,285 (GRCm39) |
Y89C |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,938,289 (GRCm39) |
S59P |
probably damaging |
Het |
Chit1 |
T |
A |
1: 134,071,075 (GRCm39) |
C51* |
probably null |
Het |
Cilp2 |
G |
T |
8: 70,334,369 (GRCm39) |
H876Q |
probably benign |
Het |
Cyld |
A |
G |
8: 89,467,978 (GRCm39) |
E722G |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,612 (GRCm39) |
E188G |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,950,930 (GRCm39) |
W2898R |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,343,727 (GRCm39) |
T473A |
probably damaging |
Het |
Fam228a |
T |
A |
12: 4,785,002 (GRCm39) |
H43L |
possibly damaging |
Het |
Fkbp15 |
G |
T |
4: 62,242,363 (GRCm39) |
H530N |
probably damaging |
Het |
Gga1 |
C |
T |
15: 78,776,118 (GRCm39) |
S387L |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,687 (GRCm39) |
|
noncoding transcript |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
Itgb4 |
A |
C |
11: 115,888,988 (GRCm39) |
|
probably benign |
Het |
Jag1 |
G |
A |
2: 136,935,198 (GRCm39) |
T388I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,095,514 (GRCm39) |
D551G |
probably damaging |
Het |
Lrp2bp |
A |
G |
8: 46,478,161 (GRCm39) |
D270G |
possibly damaging |
Het |
Map3k19 |
C |
A |
1: 127,751,696 (GRCm39) |
V552F |
probably benign |
Het |
Mixl1 |
A |
T |
1: 180,524,365 (GRCm39) |
D71E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,069,758 (GRCm39) |
I694T |
probably benign |
Het |
Npepps |
A |
T |
11: 97,158,518 (GRCm39) |
|
probably benign |
Het |
Nt5c1b |
C |
T |
12: 10,425,071 (GRCm39) |
Q206* |
probably null |
Het |
Or51b17 |
T |
A |
7: 103,542,622 (GRCm39) |
I107F |
probably benign |
Het |
Orm1 |
A |
G |
4: 63,263,394 (GRCm39) |
Y69C |
probably damaging |
Het |
Plscr4 |
T |
A |
9: 92,353,813 (GRCm39) |
|
probably benign |
Het |
Pon1 |
G |
A |
6: 5,175,758 (GRCm39) |
T188I |
possibly damaging |
Het |
Ppm1a |
T |
A |
12: 72,831,094 (GRCm39) |
H206Q |
probably benign |
Het |
Prl8a1 |
G |
A |
13: 27,758,008 (GRCm39) |
R234C |
probably damaging |
Het |
Rfx3 |
C |
T |
19: 27,827,367 (GRCm39) |
R73Q |
possibly damaging |
Het |
Rims2 |
T |
C |
15: 39,544,421 (GRCm39) |
V1466A |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,099,485 (GRCm39) |
F319L |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,694,067 (GRCm39) |
S123P |
possibly damaging |
Het |
Slc1a6 |
A |
T |
10: 78,632,056 (GRCm39) |
D294V |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,736,083 (GRCm39) |
D38E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,890,282 (GRCm39) |
S513P |
possibly damaging |
Het |
Stard3nl |
A |
G |
13: 19,556,756 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,531,323 (GRCm39) |
T2527A |
probably damaging |
Het |
Sult3a1 |
C |
T |
10: 33,755,284 (GRCm39) |
P283L |
probably damaging |
Het |
Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
Txndc16 |
T |
C |
14: 45,402,876 (GRCm39) |
|
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,042,430 (GRCm39) |
L590S |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,111,220 (GRCm39) |
C637S |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,365,118 (GRCm39) |
E93G |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,478 (GRCm39) |
N279S |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,829,008 (GRCm39) |
S407P |
possibly damaging |
Het |
|
Other mutations in Nadk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01420:Nadk2
|
APN |
15 |
9,103,072 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTCCACAGTTTGATTCCGCAG -3'
(R):5'- GCCAAGTAACATTTGTCCCGTCCTC -3'
Sequencing Primer
(F):5'- CACTCTACTATGGGGAGTAGGC -3'
(R):5'- TAGTTCTAACTGAACTAGGAGAAGG -3'
|
Posted On |
2013-10-16 |