Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01420:Nadk2'

80383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nadk2

Ensembl Gene

ENSMUSG00000022253

Gene Name

NAD kinase 2, mitochondrial

Synonyms

4933430B08Rik, 1110020G09Rik, MNADK, Nadkd1

Accession Numbers

Genbank: NM_001040395; MGI: 1915896

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

9071260-9110891 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9102984 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 308 (S308P)

Ref Sequence

ENSEMBL: ENSMUSP00000098354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067760
AA Change: S330P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: S330P

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: S279P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: S279P

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: S308P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: S308P

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: ENSMUST00000186069

Predicted Effect

probably benign
Transcript: ENSMUST00000188194

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: ENSMUST00000227928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228453

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,140,133	M457K	probably benign	Het
Acap2	A	G	16: 31,101,819		probably benign	Het
Actr6	A	T	10: 89,725,165		probably benign	Het
Adamts3	A	T	5: 89,703,057	M541K	possibly damaging	Het
Adgre4	T	C	17: 55,799,785		probably benign	Het
Anxa6	T	C	11: 54,992,363	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,858,280	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,570,338	D261G	probably damaging	Het
Bche	T	C	3: 73,702,009	H28R	probably benign	Het
C2cd3	T	C	7: 100,454,858	V2026A	probably benign	Het
Cacna1d	C	T	14: 30,051,638	V1697I	probably benign	Het
Celsr2	T	C	3: 108,393,763	H2738R	probably benign	Het
Celsr3	A	G	9: 108,841,190		probably null	Het
Cep152	A	T	2: 125,563,652	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,612,940	I248F	probably benign	Het
Clcnka	C	A	4: 141,389,332	R536L	probably benign	Het
Dao	T	A	5: 114,023,820		probably benign	Het
Dnajc10	T	C	2: 80,345,023	S585P	possibly damaging	Het
Dysf	C	T	6: 84,149,759	Q1333*	probably null	Het
Eps8l2	T	A	7: 141,357,663	S397T	probably benign	Het
Fap	A	G	2: 62,504,502		probably benign	Het
Fbf1	T	C	11: 116,145,996	T971A	probably benign	Het
Fbxl17	C	T	17: 63,385,052	V22M	probably damaging	Het
Fundc2	T	C	X: 75,390,865		probably benign	Het
Heyl	C	A	4: 123,240,174	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,872	K30E	probably benign	Het
Igsf10	T	C	3: 59,319,650	I2201V	probably benign	Het
Il34	T	C	8: 110,742,713	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,389,044	T116A	probably damaging	Het
Lpl	T	C	8: 68,887,433		probably benign	Het
Mcm6	A	G	1: 128,345,875	L406P	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nae1	G	T	8: 104,523,165	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,407,587	P1266S	probably damaging	Het
Neb	A	G	2: 52,157,377	Y6485H	probably damaging	Het
Nin	G	A	12: 70,045,414	A707V	probably benign	Het
Nmur1	T	C	1: 86,387,391	T218A	probably benign	Het
Npr3	T	C	15: 11,858,632	N135D	probably damaging	Het
Nup107	A	T	10: 117,785,021	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,141,443	S53T	probably benign	Het
Plxdc2	T	A	2: 16,650,139	V232D	probably damaging	Het
Pou2f2	T	C	7: 25,092,952	N493D	possibly damaging	Het
Rtel1	T	C	2: 181,354,401	I750T	probably benign	Het
Sbk1	A	G	7: 126,292,012		probably null	Het
Sec24d	A	G	3: 123,350,009	N603S	probably benign	Het
Slc38a10	T	A	11: 120,106,460	E736V	probably damaging	Het
Smc6	A	G	12: 11,291,658	Y559C	probably benign	Het
Sprr4	A	T	3: 92,500,384	V37E	unknown	Het
Sptbn2	A	G	19: 4,734,125	T632A	probably benign	Het
Trim31	A	G	17: 36,898,411	M20V	probably benign	Het
Trim65	C	A	11: 116,126,509	V376L	probably damaging	Het
Ttn	T	C	2: 76,712,076	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,702,051	T503A	possibly damaging	Het
Vtn	A	T	11: 78,499,374	I9L	probably benign	Het
Zfp398	A	G	6: 47,865,934	M175V	probably benign	Het

Other mutations in Nadk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
tabak	UTSW	15	9108254	missense	probably damaging	0.99
PIT4131001:Nadk2	UTSW	15	9100143	frame shift	probably null
PIT4142001:Nadk2	UTSW	15	9100143	frame shift	probably null
R0347:Nadk2	UTSW	15	9084207	missense	probably benign	0.08
R0838:Nadk2	UTSW	15	9091242	missense	probably benign	0.00
R0988:Nadk2	UTSW	15	9102992	missense	probably damaging	0.99
R1014:Nadk2	UTSW	15	9091254	missense	probably damaging	1.00
R1159:Nadk2	UTSW	15	9106837	missense	possibly damaging	0.86
R1387:Nadk2	UTSW	15	9106782	missense	possibly damaging	0.68
R1861:Nadk2	UTSW	15	9108311	missense	probably benign	0.21
R1886:Nadk2	UTSW	15	9103358	missense	possibly damaging	0.87
R2354:Nadk2	UTSW	15	9085782	missense	probably damaging	1.00
R3623:Nadk2	UTSW	15	9084223	missense	probably damaging	1.00
R3624:Nadk2	UTSW	15	9084223	missense	probably damaging	1.00
R4642:Nadk2	UTSW	15	9092721	missense	possibly damaging	0.64
R4867:Nadk2	UTSW	15	9098857	missense	possibly damaging	0.84
R5314:Nadk2	UTSW	15	9108313	missense	probably benign	0.04
R7214:Nadk2	UTSW	15	9108254	missense	probably damaging	0.99
R7244:Nadk2	UTSW	15	9083191	splice site	probably null
R7310:Nadk2	UTSW	15	9103381	critical splice donor site	probably null
R7634:Nadk2	UTSW	15	9092846	missense	probably benign	0.41
R8310:Nadk2	UTSW	15	9103332	missense	probably benign
R8424:Nadk2	UTSW	15	9083334	missense	possibly damaging	0.92

Posted On

2013-11-05