Incidental Mutation 'R4386:Nadk'
| ID |
326218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadk
|
| Ensembl Gene |
ENSMUSG00000029063 |
| Gene Name |
NAD kinase |
| Synonyms |
4432404C02Rik |
| MMRRC Submission |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 155667032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105612]
[ENSMUST00000105613]
[ENSMUST00000135429]
[ENSMUST00000146080]
|
| AlphaFold |
P58058 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030939
|
| SMART Domains |
Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_kinase
|
106 |
406 |
2.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105612
|
| SMART Domains |
Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_kinase
|
30 |
330 |
7.6e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105613
|
| SMART Domains |
Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_kinase
|
106 |
406 |
1.4e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146080
|
| SMART Domains |
Protein: ENSMUSP00000117504
Gene: ENSMUSG00000029063
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3PFN|D
|
68 |
85 |
8e-7 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152297
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-07-06 |
Incidental Mutation