Incidental Mutation 'IGL03059:Nadk'
ID |
409355 |
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: 0.944)
|
Stock # |
IGL03059
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155671253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 143
(E143G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105612]
[ENSMUST00000105613]
|
AlphaFold |
P58058 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030939
AA Change: E219G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000030939 Gene: ENSMUSG00000029063 AA Change: E219G
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
106 |
406 |
2.5e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105612
AA Change: E143G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000101237 Gene: ENSMUSG00000029063 AA Change: E143G
Domain | Start | End | E-Value | Type |
Pfam:NAD_kinase
|
30 |
330 |
7.6e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105613
AA Change: E219G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000101238 Gene: ENSMUSG00000029063 AA Change: E219G
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
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 |
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 |
2016-08-02 |