Incidental Mutation 'R9122:Nadk'
ID |
692808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadk
|
Ensembl Gene |
ENSMUSG00000029063 |
Gene Name |
NAD kinase |
Synonyms |
4432404C02Rik |
MMRRC Submission |
068924-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
R9122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155671275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 226
(N226K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105612]
[ENSMUST00000105613]
|
AlphaFold |
P58058 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030939
AA Change: N226K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000030939 Gene: ENSMUSG00000029063 AA Change: N226K
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
106 |
406 |
2.5e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105612
AA Change: N150K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000101237 Gene: ENSMUSG00000029063 AA Change: N150K
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
30 |
330 |
7.6e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105613
AA Change: N226K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000101238 Gene: ENSMUSG00000029063 AA Change: N226K
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
106 |
406 |
1.4e-67 |
PFAM |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (42/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
Armh4 |
A |
T |
14: 50,011,459 (GRCm39) |
Y83N |
possibly damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cacna1d |
C |
A |
14: 29,845,402 (GRCm39) |
R611L |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 29,852,125 (GRCm39) |
T498I |
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,831,081 (GRCm39) |
D57E |
probably null |
Het |
Cd180 |
C |
A |
13: 102,841,517 (GRCm39) |
L188M |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,840,510 (GRCm39) |
K1426R |
possibly damaging |
Het |
Cntnap5c |
A |
T |
17: 58,411,601 (GRCm39) |
D495V |
probably benign |
Het |
Col11a1 |
T |
A |
3: 113,907,249 (GRCm39) |
M630K |
unknown |
Het |
Cxxc1 |
T |
G |
18: 74,350,246 (GRCm39) |
D4E |
probably benign |
Het |
Ddx31 |
G |
A |
2: 28,748,753 (GRCm39) |
R227Q |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,442,898 (GRCm39) |
M1109V |
probably benign |
Het |
Dennd5b |
T |
C |
6: 148,908,240 (GRCm39) |
T1018A |
|
Het |
Efcab3 |
A |
T |
11: 104,856,605 (GRCm39) |
D3840V |
unknown |
Het |
Ggta1 |
A |
T |
2: 35,303,336 (GRCm39) |
|
probably null |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gpr37l1 |
C |
T |
1: 135,095,209 (GRCm39) |
V12I |
probably benign |
Het |
Grin2a |
A |
T |
16: 9,397,186 (GRCm39) |
V967E |
possibly damaging |
Het |
H2ac25 |
T |
C |
11: 58,845,667 (GRCm39) |
L35P |
probably damaging |
Het |
Helz |
A |
G |
11: 107,556,830 (GRCm39) |
T1283A |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,745,930 (GRCm39) |
M1315T |
possibly damaging |
Het |
Klri1 |
T |
A |
6: 129,693,995 (GRCm39) |
R31* |
probably null |
Het |
Ncapg |
T |
C |
5: 45,846,015 (GRCm39) |
F624S |
possibly damaging |
Het |
Nxn |
A |
T |
11: 76,169,317 (GRCm39) |
I154N |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,998 (GRCm39) |
V2952A |
unknown |
Het |
Poc1a |
T |
C |
9: 106,162,242 (GRCm39) |
V89A |
probably benign |
Het |
Pou2f2 |
T |
A |
7: 24,792,302 (GRCm39) |
T518S |
probably benign |
Het |
Pou5f1 |
C |
T |
17: 35,819,953 (GRCm39) |
T7I |
probably benign |
Het |
Prss44 |
T |
C |
9: 110,646,362 (GRCm39) |
V363A |
probably damaging |
Het |
Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
Slc24a1 |
C |
A |
9: 64,834,478 (GRCm39) |
M981I |
probably benign |
Het |
Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,314,755 (GRCm39) |
|
probably benign |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Trgv1 |
G |
A |
13: 19,524,330 (GRCm39) |
G18E |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,317,681 (GRCm39) |
T61A |
probably benign |
Het |
Tshr |
C |
A |
12: 91,478,737 (GRCm39) |
H195N |
probably benign |
Het |
Ttn |
A |
G |
2: 76,712,151 (GRCm39) |
S8202P |
unknown |
Het |
Ufsp2 |
A |
T |
8: 46,438,441 (GRCm39) |
Y248F |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,240,910 (GRCm39) |
I68L |
probably benign |
Het |
Wdfy3 |
C |
A |
5: 102,091,831 (GRCm39) |
V503L |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,919 (GRCm39) |
K852* |
probably null |
Het |
Zfp980 |
A |
C |
4: 145,428,834 (GRCm39) |
H521P |
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 |
R8042: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 |
Z1177:Nadk
|
UTSW |
4 |
155,672,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCACTGCTTTGGAAGGTG -3'
(R):5'- TCCCAAATCTTGAAACTGCATC -3'
Sequencing Primer
(F):5'- GAAGGTGGCCTGCTTGC -3'
(R):5'- GCTGCCTGCTTTTAAAGAAGACC -3'
|
Posted On |
2021-12-30 |