Incidental Mutation 'R3624:Nadk2'
ID |
269345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadk2
|
Ensembl Gene |
ENSMUSG00000022253 |
Gene Name |
NAD kinase 2, mitochondrial |
Synonyms |
1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik |
MMRRC Submission |
040678-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3624 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9071340-9110584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9084303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 139
(W139R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
|
AlphaFold |
Q8C5H8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067760
AA Change: W139R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068318 Gene: ENSMUSG00000022253 AA Change: W139R
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 damaging
Transcript: ENSMUST00000100789
AA Change: W139R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098353 Gene: ENSMUSG00000022253 AA Change: W139R
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 damaging
Transcript: ENSMUST00000100790
AA Change: W139R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098354 Gene: ENSMUSG00000022253 AA Change: W139R
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
Pfam:NAD_kinase
|
58 |
312 |
3.9e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189211
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228397
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227682
|
Meta Mutation Damage Score |
0.8103 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,790,650 (GRCm39) |
T905A |
probably damaging |
Het |
Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
Anks1 |
T |
C |
17: 28,205,262 (GRCm39) |
F274L |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
Coch |
A |
G |
12: 51,649,609 (GRCm39) |
I307V |
probably benign |
Het |
Colec11 |
T |
C |
12: 28,644,907 (GRCm39) |
M196V |
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
D17H6S53E |
A |
G |
17: 35,346,512 (GRCm39) |
E141G |
probably benign |
Het |
Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
Elp1 |
C |
T |
4: 56,798,708 (GRCm39) |
V85M |
possibly damaging |
Het |
Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
Esp4 |
A |
G |
17: 40,913,484 (GRCm39) |
K117R |
unknown |
Het |
Fam186b |
A |
G |
15: 99,178,396 (GRCm39) |
L310S |
probably benign |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
H2-T3 |
T |
C |
17: 36,500,957 (GRCm39) |
T20A |
possibly damaging |
Het |
Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
Irs2 |
C |
T |
8: 11,057,643 (GRCm39) |
G263D |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,636,700 (GRCm39) |
Y38H |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,849,798 (GRCm39) |
V35A |
probably damaging |
Het |
Klhl14 |
A |
T |
18: 21,690,953 (GRCm39) |
V499D |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,740,783 (GRCm39) |
|
probably benign |
Het |
Loxl4 |
A |
G |
19: 42,596,015 (GRCm39) |
V146A |
probably benign |
Het |
Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
Mlh3 |
C |
T |
12: 85,315,169 (GRCm39) |
C339Y |
probably damaging |
Het |
Mog |
T |
C |
17: 37,323,338 (GRCm39) |
H200R |
possibly damaging |
Het |
Nsd3 |
A |
G |
8: 26,152,835 (GRCm39) |
T392A |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
Racgap1 |
T |
A |
15: 99,540,772 (GRCm39) |
N26I |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rspry1 |
A |
G |
8: 95,376,405 (GRCm39) |
D309G |
probably damaging |
Het |
Sgcz |
T |
C |
8: 38,420,201 (GRCm39) |
E17G |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
Smad1 |
A |
G |
8: 80,066,327 (GRCm39) |
V450A |
probably benign |
Het |
Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
Spag11a |
A |
G |
8: 19,209,417 (GRCm39) |
D69G |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,090,593 (GRCm39) |
H559R |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,707,999 (GRCm39) |
Y132C |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,645,556 (GRCm39) |
T98A |
probably benign |
Het |
Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
Trim54 |
G |
A |
5: 31,294,320 (GRCm39) |
V319M |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,894,601 (GRCm39) |
Y951C |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,921,860 (GRCm39) |
N77K |
probably damaging |
Het |
Uhrf1 |
C |
T |
17: 56,624,023 (GRCm39) |
T482I |
probably damaging |
Het |
Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
Vmn1r88 |
A |
C |
7: 12,911,790 (GRCm39) |
M49L |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,448,753 (GRCm39) |
F474I |
probably benign |
Het |
Zkscan8 |
C |
T |
13: 21,704,946 (GRCm39) |
R259Q |
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 |
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 |
R7244:Nadk2
|
UTSW |
15 |
9,083,271 (GRCm39) |
splice site |
probably null |
|
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'- ATGCTAACTTCCCAAACTACACCTTTG -3'
(R):5'- AGAGAGCCTCACAGCATCAG -3'
Sequencing Primer
(F):5'- CTATAACAGATGATGGTGGTGGTTAC -3'
(R):5'- GCCTCACAGCATCAGAATTATGAATG -3'
|
Posted On |
2015-02-19 |