Mutagenetix > Incidental Mutation

Incidental Mutation 'R2891:Nadk'

260095

Institutional Source

Beutler Lab

Gene Symbol

Nadk

Ensembl Gene

ENSMUSG00000029063

Gene Name

NAD kinase

Synonyms

MMRRC Submission

040479-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R2891 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

155562378-155591001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155587360 bp (GRCm38)

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,693,519	Y816H	probably damaging	Het
Clcn6	C	T	4: 148,012,616		probably null	Het
Farp1	C	T	14: 121,256,736	A543V	probably damaging	Het
Hhat	T	C	1: 192,595,086	Y355C	probably damaging	Het
Ireb2	A	T	9: 54,899,990	H612L	probably benign	Het
Kcnj3	A	T	2: 55,447,015	I298F	probably damaging	Het
Kdr	A	G	5: 75,946,836	F1016L	probably damaging	Het
Klf7	T	C	1: 64,042,362	Y269C	probably damaging	Het
Klhl9	T	C	4: 88,720,970	I345V	probably benign	Het
Miga2	A	T	2: 30,378,294		probably null	Het
Ncoa6	T	A	2: 155,437,961	D45V	possibly damaging	Het
Pcnx2	A	G	8: 125,891,058	S153P	probably damaging	Het
Per2	C	A	1: 91,445,603	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,376,061	A73V	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Rapsn	A	T	2: 91,036,824	D157V	probably damaging	Het
Shprh	T	G	10: 11,164,356	S4R	probably damaging	Het
Taar8a	G	A	10: 24,077,130	V211I	probably benign	Het
Vpreb3	C	T	10: 75,943,222		probably benign	Het

Other mutations in Nadk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Nadk	APN	4	155588700	splice site	probably benign
IGL02078:Nadk	APN	4	155579403	unclassified	probably benign
IGL02116:Nadk	APN	4	155579306	splice site	probably benign
IGL02951:Nadk	APN	4	155587476	missense	probably benign	0.00
IGL03059:Nadk	APN	4	155586796	missense	probably benign	0.02
IGL03203:Nadk	APN	4	155585251	missense	probably damaging	0.99
R0416:Nadk	UTSW	4	155587799	splice site	probably benign
R1633:Nadk	UTSW	4	155577185	missense	probably damaging	1.00
R2044:Nadk	UTSW	4	155585441	missense	probably damaging	1.00
R2892:Nadk	UTSW	4	155587360	missense	possibly damaging	0.46
R2894:Nadk	UTSW	4	155587360	missense	possibly damaging	0.46
R4275:Nadk	UTSW	4	155584255	missense	probably benign	0.44
R4386:Nadk	UTSW	4	155582575	unclassified	probably benign
R4416:Nadk	UTSW	4	155587726	nonsense	probably null
R4703:Nadk	UTSW	4	155585227	missense	probably benign	0.00
R4704:Nadk	UTSW	4	155585227	missense	probably benign	0.00
R4705:Nadk	UTSW	4	155585227	missense	probably benign	0.00
R5219:Nadk	UTSW	4	155584254	missense	probably benign	0.00
R5610:Nadk	UTSW	4	155584171	missense	probably damaging	1.00
R5673:Nadk	UTSW	4	155585185	missense	possibly damaging	0.48
R6393:Nadk	UTSW	4	155589351	missense	possibly damaging	0.60
R7091:Nadk	UTSW	4	155587758	missense	probably benign	0.00
R7144:Nadk	UTSW	4	155589336	missense	probably damaging	0.99
R7811:Nadk	UTSW	4	155576875	intron	probably benign
R7951:Nadk	UTSW	4	155577067	missense	probably benign	0.06
R7952:Nadk	UTSW	4	155577067	missense	probably benign	0.06
R8002:Nadk	UTSW	4	155577198	critical splice donor site	probably null
R8039:Nadk	UTSW	4	155577067	missense	probably benign	0.06
R8041:Nadk	UTSW	4	155577067	missense	probably benign	0.06
R8042:Nadk	UTSW	4	155577067	missense	probably benign	0.06
R8066:Nadk	UTSW	4	155577067	missense	probably benign	0.06
R8113:Nadk	UTSW	4	155570670	splice site	probably null
R8558:Nadk	UTSW	4	155585387	missense	probably benign	0.40
R9122:Nadk	UTSW	4	155586818	missense	probably benign	0.00
Z1177:Nadk	UTSW	4	155587700	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATCTCCCCTAACAGCTC -3'
(R):5'- AAGTTAGGCAGCTTGGGAAC -3'

Sequencing Primer
(F):5'- GGTCTTCTTTAAAAGCAGGCAGC -3'
(R):5'- GAACTTTCCACAGACCTGGTATTG -3'

Posted On

2015-01-23