Mutagenetix > Incidental Mutation

Incidental Mutation 'R4275:Nadk'

324748

Institutional Source

Beutler Lab

Gene Symbol

Nadk

Ensembl Gene

ENSMUSG00000029063

Gene Name

NAD kinase

Synonyms

MMRRC Submission

041646-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155562378-155591001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155584255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 128 (Y128N)

Ref Sequence

ENSEMBL: ENSMUSP00000101238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030939] [ENSMUST00000105612] [ENSMUST00000105613] [ENSMUST00000135429] [ENSMUST00000146080]

AlphaFold

P58058

Predicted Effect

probably benign
Transcript: ENSMUST00000030939
AA Change: Y128N

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
AA Change: Y128N

Domain	Start	End	E-Value	Type
Pfam:NAD_kinase	106	406	2.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105612
AA Change: Y52N

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
AA Change: Y52N

Domain	Start	End	E-Value	Type
Pfam:NAD_kinase	30	330	7.6e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105613
AA Change: Y128N

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
AA Change: Y128N

Domain	Start	End	E-Value	Type
Pfam:NAD_kinase	106	406	1.4e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135429

Predicted Effect

probably benign
Transcript: ENSMUST00000146080

SMART Domains

Protein: ENSMUSP00000117504
Gene: ENSMUSG00000029063

Domain	Start	End	E-Value	Type
PDB:3PFN\|D	68	85	8e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152297

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

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
Cacna1e	T	C	1: 154,493,325	Y322C	probably damaging	Het
Camsap2	A	G	1: 136,270,876	V1462A	probably benign	Het
D3Ertd751e	C	A	3: 41,756,154		probably benign	Het
Dhcr7	C	T	7: 143,843,227	A152V	probably damaging	Het
Enpep	A	T	3: 129,332,278	N68K	probably benign	Het
Fam126b	T	C	1: 58,529,933	T440A	probably benign	Het
Fam131b	G	A	6: 42,321,307	L43F	probably damaging	Het
Fbxl5	T	A	5: 43,762,772		probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Igf2	T	C	7: 142,655,786	M46V	probably benign	Het
Kntc1	T	A	5: 123,767,779	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,458,995	W647R	probably damaging	Het
Mettl21c	C	T	1: 44,010,556	V110I	probably damaging	Het
Mrgprh	T	C	17: 12,877,227	L118P	probably damaging	Het
Myadm	A	G	7: 3,297,102	T127A	probably benign	Het
Myh10	A	T	11: 68,751,940		probably null	Het
Olfr1089	T	C	2: 86,733,592	T7A	probably damaging	Het
Olfr996	T	C	2: 85,579,863	V208A	probably benign	Het
Papolg	A	G	11: 23,868,378	I500T	probably benign	Het
Pkhd1	A	T	1: 20,058,384	C4032S	probably benign	Het
Rnase1	A	T	14: 51,145,870	L9Q	probably damaging	Het
Rspry1	G	T	8: 94,649,761	V304L	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Scpep1	T	C	11: 88,947,142		probably null	Het
Serpina3m	T	A	12: 104,389,116	I14N	probably damaging	Het
Smg6	A	C	11: 74,993,874		probably benign	Het
Suz12	T	C	11: 80,030,053	M593T	probably damaging	Het
Tmem139	A	G	6: 42,264,105	E208G	probably damaging	Het
Tnxb	A	G	17: 34,698,231	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,498,694	V911G	probably damaging	Het
Vipr1	T	C	9: 121,664,618	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,228,640	I92F	probably damaging	Het
Zfp518b	A	G	5: 38,671,728	V978A	probably damaging	Het
Zfp651	T	A	9: 121,766,539	V576D	probably damaging	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
R2891:Nadk	UTSW	4	155587360	missense	possibly damaging	0.46
R2892:Nadk	UTSW	4	155587360	missense	possibly damaging	0.46
R2894:Nadk	UTSW	4	155587360	missense	possibly damaging	0.46
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'- TGACGGTGTACATATAGTTGGC -3'
(R):5'- CAGCACTACAGGCTGCTAAG -3'

Sequencing Primer
(F):5'- CATATAGTTGGCAATGTAGTTCTCC -3'
(R):5'- CTACAGGCTGCTAAGTATCTTTTAGG -3'

Posted On

2015-06-24