Incidental Mutation 'R7244:Nadk2'
| ID |
568710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadk2
|
| Ensembl Gene |
ENSMUSG00000022253 |
| Gene Name |
NAD kinase 2, mitochondrial |
| Synonyms |
1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik |
| MMRRC Submission |
045308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7244 (G1)
|
| Quality Score |
201.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9071340-9110584 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 9083271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
|
| AlphaFold |
Q8C5H8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067760
|
| SMART Domains |
Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
334 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100789
|
| SMART Domains |
Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
171 |
8.2e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100790
|
| SMART Domains |
Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
312 |
3.9e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for knock-out allele exhibit increased serum lysine and carnitine levels, develop increased reactive oxygen species levels and hepatic steatosis on an atherogenic high-fat diet, and show impaired fasting-induced fatty acid oxidation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,170,350 (GRCm39) |
F983L |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,486,799 (GRCm39) |
M632K |
probably benign |
Het |
| Cdyl2 |
G |
A |
8: 117,301,999 (GRCm39) |
R461* |
probably null |
Het |
| Cfap57 |
G |
A |
4: 118,411,997 (GRCm39) |
Q1216* |
probably null |
Het |
| Chd1l |
A |
T |
3: 97,505,066 (GRCm39) |
V167E |
probably damaging |
Het |
| Col6a1 |
C |
A |
10: 76,553,242 (GRCm39) |
G391* |
probably null |
Het |
| Ctsc |
C |
A |
7: 87,951,430 (GRCm39) |
Q226K |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,953 (GRCm39) |
V319A |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,316,303 (GRCm39) |
S3139P |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,256,079 (GRCm39) |
S643P |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,844,273 (GRCm39) |
V657D |
unknown |
Het |
| Fkbp11 |
A |
G |
15: 98,626,073 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,823,607 (GRCm39) |
A6447T |
possibly damaging |
Het |
| H2-T9 |
C |
A |
17: 36,438,496 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,276,307 (GRCm39) |
D3017G |
probably damaging |
Het |
| Ifi205 |
G |
A |
1: 173,845,210 (GRCm39) |
Q191* |
probably null |
Het |
| Mbd4 |
C |
T |
6: 115,821,564 (GRCm39) |
D484N |
probably benign |
Het |
| Med24 |
C |
T |
11: 98,605,223 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,404 (GRCm39) |
N103S |
probably damaging |
Het |
| Mmd2 |
T |
C |
5: 142,550,587 (GRCm39) |
H217R |
probably damaging |
Het |
| Mn1 |
C |
T |
5: 111,566,699 (GRCm39) |
T223M |
possibly damaging |
Het |
| Ms4a4a |
A |
G |
19: 11,358,794 (GRCm39) |
Y84C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,749,818 (GRCm39) |
|
probably null |
Het |
| Mybl2 |
C |
T |
2: 162,924,605 (GRCm39) |
P658S |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,446,345 (GRCm39) |
V1828L |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 49,017,149 (GRCm39) |
Y1887H |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,156,055 (GRCm39) |
N541D |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,148 (GRCm39) |
V13A |
probably benign |
Het |
| Or52i2 |
G |
T |
7: 102,319,046 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,144,421 (GRCm39) |
R171* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,771 (GRCm39) |
V1641E |
|
Het |
| Pramel28 |
A |
T |
4: 143,692,455 (GRCm39) |
M182K |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,178,242 (GRCm39) |
I497L |
probably benign |
Het |
| Rasgef1b |
T |
C |
5: 99,706,753 (GRCm39) |
K41E |
possibly damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,810 (GRCm39) |
F725S |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,612,032 (GRCm39) |
S3962C |
probably damaging |
Het |
| Sema5b |
A |
T |
16: 35,480,915 (GRCm39) |
T829S |
probably benign |
Het |
| Tdp2 |
A |
G |
13: 25,025,284 (GRCm39) |
D351G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,347,603 (GRCm39) |
D1130E |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,612,563 (GRCm39) |
C1993R |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,478,222 (GRCm39) |
I844V |
probably benign |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,760,945 (GRCm39) |
V804A |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,797,086 (GRCm39) |
V491A |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,525,551 (GRCm39) |
G233C |
probably damaging |
Het |
|
| Other mutations in Nadk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Nadk2
|
APN |
15 |
9,103,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tabak
|
UTSW |
15 |
9,108,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
D4043:Nadk2
|
UTSW |
15 |
9,103,473 (GRCm39) |
splice site |
probably benign |
|
|
PIT4131001:Nadk2
|
UTSW |
15 |
9,100,232 (GRCm39) |
frame shift |
probably null |
|
|
PIT4142001:Nadk2
|
UTSW |
15 |
9,100,232 (GRCm39) |
frame shift |
probably null |
|
|
R0347:Nadk2
|
UTSW |
15 |
9,084,287 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0838:Nadk2
|
UTSW |
15 |
9,091,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0988:Nadk2
|
UTSW |
15 |
9,103,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1014:Nadk2
|
UTSW |
15 |
9,091,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1159:Nadk2
|
UTSW |
15 |
9,106,925 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1387:Nadk2
|
UTSW |
15 |
9,106,870 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1861:Nadk2
|
UTSW |
15 |
9,108,399 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1886:Nadk2
|
UTSW |
15 |
9,103,446 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2354:Nadk2
|
UTSW |
15 |
9,085,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Nadk2
|
UTSW |
15 |
9,084,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3624:Nadk2
|
UTSW |
15 |
9,084,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Nadk2
|
UTSW |
15 |
9,092,810 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4867:Nadk2
|
UTSW |
15 |
9,098,946 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5314:Nadk2
|
UTSW |
15 |
9,108,401 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7214:Nadk2
|
UTSW |
15 |
9,108,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7310:Nadk2
|
UTSW |
15 |
9,103,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7634:Nadk2
|
UTSW |
15 |
9,092,935 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8310:Nadk2
|
UTSW |
15 |
9,103,420 (GRCm39) |
missense |
probably benign |
|
|
R8424:Nadk2
|
UTSW |
15 |
9,083,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9265:Nadk2
|
UTSW |
15 |
9,071,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Nadk2
|
UTSW |
15 |
9,103,449 (GRCm39) |
nonsense |
probably null |
|
|
R9746:Nadk2
|
UTSW |
15 |
9,106,824 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGTACCCTGGTAAAGGC -3'
(R):5'- TATAAAATCCCCTGTAAGGTCCCATC -3'
Sequencing Primer
(F):5'- CCTGGTAAAGGCATTTAAAAAGCC -3'
(R):5'- ATCGCTTGGACTTACCGTAAAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation