Incidental Mutation 'R8042:Nadk'
ID |
618566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadk
|
Ensembl Gene |
ENSMUSG00000029063 |
Gene Name |
NAD kinase |
Synonyms |
4432404C02Rik |
MMRRC Submission |
067479-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R8042 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 155661524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 17
(D17Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105613]
[ENSMUST00000135429]
[ENSMUST00000143840]
[ENSMUST00000146080]
|
AlphaFold |
P58058 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030939
AA Change: D17Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000030939 Gene: ENSMUSG00000029063 AA Change: D17Y
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
106 |
406 |
2.5e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105613
AA Change: D17Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000101238 Gene: ENSMUSG00000029063 AA Change: D17Y
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
106 |
406 |
1.4e-67 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135429
AA Change: D17Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143840
AA Change: D17Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146080
AA Change: D17Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000117504 Gene: ENSMUSG00000029063 AA Change: D17Y
Domain | Start | End | E-Value | Type |
PDB:3PFN|D
|
68 |
85 |
8e-7 |
PDB |
|
Meta Mutation Damage Score |
0.0812 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,002,233 (GRCm39) |
Y1582C |
possibly damaging |
Het |
Acly |
A |
G |
11: 100,405,151 (GRCm39) |
I339T |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,012,696 (GRCm39) |
V541A |
probably benign |
Het |
Arhgef3 |
T |
A |
14: 27,084,766 (GRCm39) |
V45D |
possibly damaging |
Het |
Azi2 |
C |
A |
9: 117,891,165 (GRCm39) |
Q397K |
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,611,445 (GRCm39) |
S451* |
probably null |
Het |
Cacna2d3 |
A |
T |
14: 28,826,995 (GRCm39) |
|
probably benign |
Het |
Cep85l |
A |
G |
10: 53,224,759 (GRCm39) |
Y277H |
probably damaging |
Het |
Cep97 |
C |
A |
16: 55,731,965 (GRCm39) |
V608L |
probably benign |
Het |
Crb1 |
T |
A |
1: 139,242,392 (GRCm39) |
Y362F |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,920,669 (GRCm39) |
|
probably benign |
Het |
Dnah14 |
T |
C |
1: 181,471,196 (GRCm39) |
|
probably null |
Het |
Dock4 |
T |
C |
12: 40,795,759 (GRCm39) |
F859L |
probably benign |
Het |
Errfi1 |
T |
C |
4: 150,950,914 (GRCm39) |
F114S |
possibly damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,108 (GRCm39) |
I150F |
probably damaging |
Het |
Loxhd1 |
C |
T |
18: 77,518,888 (GRCm39) |
T1898M |
probably damaging |
Het |
Lrrc9 |
A |
T |
12: 72,507,680 (GRCm39) |
T394S |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,838,673 (GRCm39) |
E1115G |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,917,753 (GRCm39) |
S552G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,123,203 (GRCm39) |
Y263* |
probably null |
Het |
Moxd2 |
T |
C |
6: 40,862,301 (GRCm39) |
I173V |
probably benign |
Het |
Mrc2 |
T |
C |
11: 105,239,181 (GRCm39) |
V1312A |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,097,429 (GRCm39) |
I465F |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,273,210 (GRCm39) |
D196G |
probably benign |
Het |
Obscn |
T |
C |
11: 58,931,143 (GRCm39) |
D5028G |
possibly damaging |
Het |
Pabpc1 |
A |
G |
15: 36,598,553 (GRCm39) |
F447S |
probably benign |
Het |
Pcsk6 |
T |
G |
7: 65,577,683 (GRCm39) |
N201K |
possibly damaging |
Het |
Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,393,881 (GRCm39) |
T850A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,332,480 (GRCm39) |
D2564G |
|
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sec24a |
T |
C |
11: 51,595,144 (GRCm39) |
T939A |
probably benign |
Het |
Serpine1 |
A |
T |
5: 137,095,855 (GRCm39) |
L242H |
probably benign |
Het |
Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
Slc6a6 |
A |
C |
6: 91,718,226 (GRCm39) |
I347L |
probably benign |
Het |
Spns2 |
A |
T |
11: 72,345,003 (GRCm39) |
L495H |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,596,409 (GRCm39) |
|
probably null |
Het |
Syt12 |
C |
A |
19: 4,503,852 (GRCm39) |
V260F |
probably damaging |
Het |
Tdrd7 |
T |
A |
4: 45,987,516 (GRCm39) |
S50T |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,264 (GRCm39) |
V39E |
probably damaging |
Het |
Tmem147 |
T |
A |
7: 30,427,978 (GRCm39) |
S75C |
probably damaging |
Het |
Tnpo2 |
C |
T |
8: 85,778,188 (GRCm39) |
P564S |
probably damaging |
Het |
Utp25 |
A |
G |
1: 192,796,980 (GRCm39) |
V1A |
|
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,819,010 (GRCm39) |
L327S |
probably damaging |
Het |
|
Other mutations in Nadk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01551:Nadk
|
APN |
4 |
155,673,157 (GRCm39) |
splice site |
probably benign |
|
IGL02078:Nadk
|
APN |
4 |
155,663,860 (GRCm39) |
unclassified |
probably benign |
|
IGL02116:Nadk
|
APN |
4 |
155,663,763 (GRCm39) |
splice site |
probably benign |
|
IGL02951:Nadk
|
APN |
4 |
155,671,933 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03059:Nadk
|
APN |
4 |
155,671,253 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03203:Nadk
|
APN |
4 |
155,669,708 (GRCm39) |
missense |
probably damaging |
0.99 |
R0416:Nadk
|
UTSW |
4 |
155,672,256 (GRCm39) |
splice site |
probably benign |
|
R1633:Nadk
|
UTSW |
4 |
155,661,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R2044:Nadk
|
UTSW |
4 |
155,669,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R2891:Nadk
|
UTSW |
4 |
155,671,817 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2892:Nadk
|
UTSW |
4 |
155,671,817 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2894:Nadk
|
UTSW |
4 |
155,671,817 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4275:Nadk
|
UTSW |
4 |
155,668,712 (GRCm39) |
missense |
probably benign |
0.44 |
R4386:Nadk
|
UTSW |
4 |
155,667,032 (GRCm39) |
unclassified |
probably benign |
|
R4416:Nadk
|
UTSW |
4 |
155,672,183 (GRCm39) |
nonsense |
probably null |
|
R4703:Nadk
|
UTSW |
4 |
155,669,684 (GRCm39) |
missense |
probably benign |
0.00 |
R4704:Nadk
|
UTSW |
4 |
155,669,684 (GRCm39) |
missense |
probably benign |
0.00 |
R4705:Nadk
|
UTSW |
4 |
155,669,684 (GRCm39) |
missense |
probably benign |
0.00 |
R5219:Nadk
|
UTSW |
4 |
155,668,711 (GRCm39) |
missense |
probably benign |
0.00 |
R5610:Nadk
|
UTSW |
4 |
155,668,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Nadk
|
UTSW |
4 |
155,669,642 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6393:Nadk
|
UTSW |
4 |
155,673,808 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7091:Nadk
|
UTSW |
4 |
155,672,215 (GRCm39) |
missense |
probably benign |
0.00 |
R7144:Nadk
|
UTSW |
4 |
155,673,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R7811:Nadk
|
UTSW |
4 |
155,661,332 (GRCm39) |
intron |
probably benign |
|
R7951:Nadk
|
UTSW |
4 |
155,661,524 (GRCm39) |
missense |
probably benign |
0.06 |
R7952:Nadk
|
UTSW |
4 |
155,661,524 (GRCm39) |
missense |
probably benign |
0.06 |
R8002:Nadk
|
UTSW |
4 |
155,661,655 (GRCm39) |
critical splice donor site |
probably null |
|
R8039:Nadk
|
UTSW |
4 |
155,661,524 (GRCm39) |
missense |
probably benign |
0.06 |
R8041:Nadk
|
UTSW |
4 |
155,661,524 (GRCm39) |
missense |
probably benign |
0.06 |
R8066:Nadk
|
UTSW |
4 |
155,661,524 (GRCm39) |
missense |
probably benign |
0.06 |
R8113:Nadk
|
UTSW |
4 |
155,655,127 (GRCm39) |
splice site |
probably null |
|
R8558:Nadk
|
UTSW |
4 |
155,669,844 (GRCm39) |
missense |
probably benign |
0.40 |
R9122:Nadk
|
UTSW |
4 |
155,671,275 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Nadk
|
UTSW |
4 |
155,672,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCACAGGGATCTTGTGGAAGG -3'
(R):5'- CTGATATCGGCTGTGTCCTCTG -3'
Sequencing Primer
(F):5'- ACAGGGATCTTGTGGAAGGTCTTG -3'
(R):5'- TCTGTAAGGATCCTAACACAGCATG -3'
|
Posted On |
2020-01-23 |