Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03203:Nadk'

413046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nadk

Ensembl Gene

ENSMUSG00000029063

Gene Name

NAD kinase

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL03203

Quality Score

Status

Chromosome

Chromosomal Location

155562378-155591001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155585251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 89 (F89L)

Ref Sequence

ENSEMBL: ENSMUSP00000101237 (fasta)

Gene Model

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

AlphaFold

P58058

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030939
AA Change: F165L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
AA Change: F165L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105612
AA Change: F89L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
AA Change: F89L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105613
AA Change: F165L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
AA Change: F165L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152297

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 31,096,345		probably benign	Het
Adamts17	T	G	7: 67,062,108	I725S	probably damaging	Het
Arhgef3	T	C	14: 27,394,116	Y292H	probably damaging	Het
Cdh19	C	T	1: 110,890,098	C638Y	possibly damaging	Het
Ces1c	A	T	8: 93,124,588	M136K	probably damaging	Het
Col11a1	A	G	3: 114,212,084	I482V	possibly damaging	Het
Col4a3	A	T	1: 82,672,639	K539*	probably null	Het
D630045J12Rik	A	G	6: 38,168,221	V1290A	probably damaging	Het
Ear6	T	G	14: 51,854,246	S83R	probably benign	Het
Gdf10	T	C	14: 33,934,473	V464A	possibly damaging	Het
Herc1	T	C	9: 66,388,900		probably null	Het
Katnal2	G	T	18: 77,007,524	A194E	probably damaging	Het
Lpxn	A	T	19: 12,819,406	M97L	probably benign	Het
Mn1	T	C	5: 111,421,403	S1080P	probably benign	Het
Nek5	G	A	8: 22,118,768	R92W	probably damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Nipal4	C	A	11: 46,150,296	L357F	probably damaging	Het
Olfr101	A	G	17: 37,300,426		probably benign	Het
Pcdhb6	A	G	18: 37,334,532	N169D	possibly damaging	Het
Plppr4	A	G	3: 117,325,891	C290R	possibly damaging	Het
Rxfp2	A	G	5: 150,063,680	D332G	probably benign	Het
Slc9b2	G	A	3: 135,326,212	D278N	probably damaging	Het
Taok1	A	G	11: 77,540,085	V838A	probably damaging	Het
Thoc1	T	A	18: 9,960,483		probably benign	Het
Usp36	C	T	11: 118,285,810	V61I	probably benign	Het
Uxs1	A	G	1: 43,807,344		probably benign	Het
Zmat4	C	T	8: 24,015,184	H147Y	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
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
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

Posted On

2016-08-02