Incidental Mutation 'R2894:Nadk'
| ID |
260691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadk
|
| Ensembl Gene |
ENSMUSG00000029063 |
| Gene Name |
NAD kinase |
| Synonyms |
4432404C02Rik |
| MMRRC Submission |
040482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R2894 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155646838-155675458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155671817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 232
(N232S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030939]
[ENSMUST00000105612]
[ENSMUST00000105613]
|
| AlphaFold |
P58058 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030939
AA Change: N232S
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
AA Change: N232S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_kinase
|
106 |
406 |
2.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105612
AA Change: N156S
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
AA Change: N156S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_kinase
|
30 |
330 |
7.6e-66 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105613
AA Change: N232S
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
AA Change: N232S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_kinase
|
106 |
406 |
1.4e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152297
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
C |
A |
11: 83,554,329 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Cenpu |
C |
A |
8: 47,029,384 (GRCm39) |
N212K |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,020,718 (GRCm39) |
E1217V |
possibly damaging |
Het |
| Dusp15 |
T |
C |
2: 152,791,005 (GRCm39) |
I31V |
probably benign |
Het |
| Ern2 |
A |
C |
7: 121,780,810 (GRCm39) |
S114A |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fmo6 |
C |
T |
1: 162,750,293 (GRCm39) |
W254* |
probably null |
Het |
| Gm16494 |
T |
C |
17: 47,327,632 (GRCm39) |
E84G |
unknown |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Mdga1 |
T |
C |
17: 30,071,478 (GRCm39) |
Y381C |
probably damaging |
Het |
| Msh3 |
G |
T |
13: 92,478,868 (GRCm39) |
A367D |
probably benign |
Het |
| Or51e1 |
A |
G |
7: 102,358,882 (GRCm39) |
T139A |
probably damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,588 (GRCm39) |
Y196* |
probably null |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,675,692 (GRCm39) |
M378K |
probably damaging |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,146 (GRCm38) |
D300G |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,456,114 (GRCm39) |
R63W |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,663,916 (GRCm39) |
N77S |
probably benign |
Het |
| Slc22a19 |
C |
A |
19: 7,670,169 (GRCm39) |
K228N |
probably benign |
Het |
| Thoc6 |
A |
G |
17: 23,888,009 (GRCm39) |
S292P |
probably damaging |
Het |
| Tmem126b |
A |
T |
7: 90,120,121 (GRCm39) |
S83R |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,408 (GRCm39) |
E262K |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,785,220 (GRCm39) |
V144A |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,275,578 (GRCm39) |
N787S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATCTCCCCTAACAGCTC -3'
(R):5'- TGAAGTTAGGCAGCTTGGGAAC -3'
Sequencing Primer
(F):5'- GGTCTTCTTTAAAAGCAGGCAGC -3'
(R):5'- GAACTTTCCACAGACCTGGTATTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation