Incidental Mutation 'IGL02116:Nadk'
ID |
280404 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nadk
|
Ensembl Gene |
ENSMUSG00000029063 |
Gene Name |
NAD kinase |
Synonyms |
4432404C02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
IGL02116
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 155663763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105612]
[ENSMUST00000105613]
[ENSMUST00000135429]
[ENSMUST00000143840]
[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: ENSMUST00000143840
|
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: ENSMUST00000147062
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,981,018 (GRCm39) |
N190K |
possibly damaging |
Het |
Adamts19 |
T |
C |
18: 58,970,571 (GRCm39) |
S52P |
probably benign |
Het |
Ahrr |
G |
T |
13: 74,368,692 (GRCm39) |
H160Q |
possibly damaging |
Het |
Ap4s1 |
T |
C |
12: 51,769,833 (GRCm39) |
|
probably null |
Het |
Atrn |
T |
C |
2: 130,800,009 (GRCm39) |
V462A |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,045,130 (GRCm39) |
S800G |
possibly damaging |
Het |
Dach1 |
T |
G |
14: 98,138,859 (GRCm39) |
N528T |
probably damaging |
Het |
Foxl2 |
T |
C |
9: 98,838,111 (GRCm39) |
M133T |
probably damaging |
Het |
Grsf1 |
A |
G |
5: 88,818,033 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
G |
13: 9,042,772 (GRCm39) |
I43T |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,873,978 (GRCm39) |
Y2172C |
probably damaging |
Het |
Hey1 |
G |
T |
3: 8,731,640 (GRCm39) |
|
probably null |
Het |
Hnrnph3 |
A |
T |
10: 62,851,855 (GRCm39) |
|
probably benign |
Het |
Hps1 |
A |
T |
19: 42,759,568 (GRCm39) |
Y81* |
probably null |
Het |
Inhba |
A |
G |
13: 16,201,557 (GRCm39) |
H373R |
probably benign |
Het |
Leo1 |
T |
A |
9: 75,356,697 (GRCm39) |
I359K |
probably damaging |
Het |
Mcoln3 |
A |
G |
3: 145,839,664 (GRCm39) |
N339D |
probably benign |
Het |
Mrpl19 |
G |
A |
6: 81,942,758 (GRCm39) |
P51S |
probably benign |
Het |
Or5an11 |
A |
G |
19: 12,246,374 (GRCm39) |
Y260C |
probably damaging |
Het |
Or5d39 |
T |
A |
2: 87,979,632 (GRCm39) |
T244S |
probably benign |
Het |
Pappa2 |
T |
G |
1: 158,672,695 (GRCm39) |
I1083L |
probably benign |
Het |
R3hdm2 |
A |
G |
10: 127,334,421 (GRCm39) |
D948G |
probably damaging |
Het |
Rbm15 |
A |
T |
3: 107,237,596 (GRCm39) |
L934Q |
probably damaging |
Het |
Rec8 |
T |
A |
14: 55,862,336 (GRCm39) |
|
probably null |
Het |
Riok1 |
A |
G |
13: 38,243,932 (GRCm39) |
E486G |
possibly damaging |
Het |
Rptn |
A |
C |
3: 93,302,404 (GRCm39) |
E40A |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc40a1 |
T |
C |
1: 45,950,688 (GRCm39) |
T255A |
probably benign |
Het |
Slc5a8 |
A |
T |
10: 88,755,362 (GRCm39) |
M490L |
probably benign |
Het |
Sned1 |
C |
A |
1: 93,209,447 (GRCm39) |
C62* |
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,063,782 (GRCm39) |
T2215A |
probably benign |
Het |
Synpo |
T |
A |
18: 60,736,528 (GRCm39) |
R234W |
probably damaging |
Het |
Tmco3 |
A |
T |
8: 13,342,706 (GRCm39) |
|
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,244,972 (GRCm39) |
D250G |
probably benign |
Het |
Vmn2r31 |
T |
A |
7: 7,397,548 (GRCm39) |
I237F |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,078,466 (GRCm39) |
V306A |
probably benign |
Het |
Zfp629 |
A |
G |
7: 127,211,890 (GRCm39) |
W8R |
probably damaging |
Het |
Zim1 |
T |
C |
7: 6,681,253 (GRCm39) |
T137A |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |