Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Nagk'

282772

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nagk

Ensembl Gene

ENSMUSG00000034744

Gene Name

N-acetylglucosamine kinase

Synonyms

GlcNAc kinase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

83770810-83779538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83778088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 246 (D246G)

Ref Sequence

ENSEMBL: ENSMUSP00000109482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037376] [ENSMUST00000058383] [ENSMUST00000113850] [ENSMUST00000113851]

AlphaFold

Q9QZ08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037376
AA Change: D228G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042026
Gene: ENSMUSG00000034744
AA Change: D228G

Domain	Start	End	E-Value	Type
Pfam:BcrAD_BadFG	6	294	6.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058383

SMART Domains

Protein: ENSMUSP00000050404
Gene: ENSMUSG00000045896

Domain	Start	End	E-Value	Type
Pfam:PAM2	118	135	5.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113850

SMART Domains

Protein: ENSMUSP00000109481
Gene: ENSMUSG00000034744

Domain	Start	End	E-Value	Type
Pfam:BcrAD_BadFG	6	233	5.5e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113851
AA Change: D246G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109482
Gene: ENSMUSG00000034744
AA Change: D246G

Domain	Start	End	E-Value	Type
Pfam:BcrAD_BadFG	28	302	1.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205599

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 member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,721 (GRCm39)		probably benign	Het
Cacna1f	T	C	X: 7,482,258 (GRCm39)	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,824,312 (GRCm39)	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,481,333 (GRCm39)	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,018,284 (GRCm39)	L8*	probably null	Het
Cited2	T	C	10: 17,600,018 (GRCm39)	S109P	probably benign	Het
Cnot4	T	C	6: 35,033,159 (GRCm39)	D286G	possibly damaging	Het
Col5a1	T	C	2: 27,908,568 (GRCm39)	I52T	probably benign	Het
Cry2	T	C	2: 92,264,166 (GRCm39)	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,172,826 (GRCm39)	F153S	probably damaging	Het
Ddr1	T	C	17: 36,000,963 (GRCm39)	S261G	possibly damaging	Het
Depdc5	G	A	5: 33,061,145 (GRCm39)	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,857,135 (GRCm39)		probably benign	Het
Epha8	A	T	4: 136,658,405 (GRCm39)	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,517,412 (GRCm39)	G383C	probably damaging	Het
Hydin	T	A	8: 111,145,055 (GRCm39)	I802N	possibly damaging	Het
Ifne	A	G	4: 88,798,065 (GRCm39)	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,431,396 (GRCm39)		probably benign	Het
Lig4	T	A	8: 10,021,821 (GRCm39)	N653I	probably benign	Het
Nav1	A	G	1: 135,398,699 (GRCm39)	S628P	probably damaging	Het
Ncoa3	A	G	2: 165,912,056 (GRCm39)	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,821,748 (GRCm39)		probably benign	Het
Nynrin	G	T	14: 56,100,792 (GRCm39)	R194L	probably damaging	Het
Or10a4	A	T	7: 106,696,868 (GRCm39)	R65S	probably benign	Het
Or10ag53	G	A	2: 87,082,542 (GRCm39)	C87Y	probably benign	Het
Or13a17	T	A	7: 140,271,664 (GRCm39)	V282D	probably damaging	Het
Orc2	A	T	1: 58,522,798 (GRCm39)		probably benign	Het
Oxgr1	T	A	14: 120,259,342 (GRCm39)	R288S	probably damaging	Het
Pgap6	T	C	17: 26,338,045 (GRCm39)	S450P	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prox1	T	C	1: 189,893,477 (GRCm39)	N323D	probably benign	Het
Prrt1	A	C	17: 34,850,829 (GRCm39)	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Sardh	G	T	2: 27,081,987 (GRCm39)	N846K	probably damaging	Het
Slc38a8	T	A	8: 120,214,099 (GRCm39)	T248S	probably benign	Het
Slc6a18	T	C	13: 73,814,591 (GRCm39)		probably null	Het
Smcp	T	C	3: 92,491,506 (GRCm39)	T114A	unknown	Het
Trpv1	A	G	11: 73,145,623 (GRCm39)	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,717,745 (GRCm39)	H243L	probably benign	Het
Wdfy3	T	C	5: 102,109,023 (GRCm39)	M125V	probably damaging	Het
Wnk2	T	C	13: 49,224,601 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,807,583 (GRCm39)	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,189,140 (GRCm39)	L20P	possibly damaging	Het
Zfp608	T	C	18: 55,121,296 (GRCm39)	H97R	probably damaging	Het
Zfp68	T	A	5: 138,604,629 (GRCm39)	M565L	probably benign	Het
Zfp687	T	C	3: 94,917,841 (GRCm39)	T644A	probably benign	Het
Zfp777	C	T	6: 48,021,460 (GRCm39)	G54D	probably damaging	Het

Other mutations in Nagk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Nagk	APN	6	83,776,352 (GRCm39)	missense	probably damaging	0.98
R0414:Nagk	UTSW	6	83,774,249 (GRCm39)	nonsense	probably null
R1809:Nagk	UTSW	6	83,774,169 (GRCm39)	missense	probably benign	0.01
R1901:Nagk	UTSW	6	83,776,336 (GRCm39)	missense	probably damaging	1.00
R3837:Nagk	UTSW	6	83,778,139 (GRCm39)	missense	possibly damaging	0.84
R4382:Nagk	UTSW	6	83,774,993 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16