Incidental Mutation 'IGL01551:Nadk'
ID |
93277 |
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 # |
IGL01551
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 155673157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105612]
[ENSMUST00000105613]
|
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 |
noncoding transcript
Transcript: ENSMUST00000152297
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably damaging |
Het |
|
Other mutations in Nadk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-09 |