Mutagenetix > Incidental Mutations

Incidental Mutation 'R2338:Hk2'

246622

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

040324-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2338 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82725025-82774454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82731115 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 628 (N628K)

Ref Sequence

ENSEMBL: ENSMUSP00000125986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000642] [ENSMUST00000170833]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000642
AA Change: N656K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: N656K

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	21	220	9.8e-78	PFAM
Pfam:Hexokinase_2	225	459	4.9e-85	PFAM
Pfam:Hexokinase_1	469	668	6.4e-80	PFAM
Pfam:Hexokinase_2	673	907	8.7e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168725

Predicted Effect

probably damaging
Transcript: ENSMUST00000170833
AA Change: N628K

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

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: N628K

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	1	193	5.5e-89	PFAM
Pfam:Hexokinase_2	195	434	5.3e-107	PFAM
Pfam:Hexokinase_1	436	641	5.9e-91	PFAM
Pfam:Hexokinase_2	643	882	1.3e-109	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]
PHENOTYPE: Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 36,095,152	D53G	probably benign	Het
4931440F15Rik	C	A	11: 29,823,718	A580S	probably benign	Het
A1cf	C	T	19: 31,932,545	P330S	probably benign	Het
A830010M20Rik	T	C	5: 107,510,574	L1158S	probably damaging	Het
Acta2	A	G	19: 34,248,541		probably benign	Het
Actrt3	A	G	3: 30,597,836	*370R	probably null	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Cadps2	C	G	6: 23,838,978		probably benign	Het
Camsap3	C	T	8: 3,606,808	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,033,679	A148T	possibly damaging	Het
Dab2	T	A	15: 6,435,252	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,799,017	F589S	probably damaging	Het
Ddx60	T	C	8: 62,012,436	S1376P	possibly damaging	Het
Eprs	T	C	1: 185,415,808	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,945,605		probably null	Het
Fat2	T	C	11: 55,311,901	T116A	possibly damaging	Het
Fmnl3	T	C	15: 99,370,227	T26A	probably benign	Het
Foxp1	A	G	6: 99,003,293	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,810,008	D375E	probably benign	Het
Gne	C	T	4: 44,042,196	A460T	probably damaging	Het
Gprin1	T	A	13: 54,738,425		probably null	Het
Hecw2	T	C	1: 53,904,422	M949V	possibly damaging	Het
Herc1	G	A	9: 66,428,969	V1599M	possibly damaging	Het
Hmcn1	T	C	1: 150,622,934	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,789,823	Q683L	probably benign	Het
Krt81	A	G	15: 101,463,336	I121T	probably benign	Het
Lamb2	T	C	9: 108,482,141	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,491,700	M113V	probably benign	Het
Mnat1	G	A	12: 73,219,143		probably null	Het
Mucl1	T	A	15: 103,753,698	T68S	possibly damaging	Het
Npnt	G	T	3: 132,891,409	D461E	probably damaging	Het
Nrp1	A	T	8: 128,497,904	Q716L	probably benign	Het
Olfr358	T	G	2: 37,005,147	S156R	probably damaging	Het
Olfr623	A	T	7: 103,660,410	I280N	possibly damaging	Het
Olfr741	A	G	14: 50,485,640	T61A	possibly damaging	Het
Podxl2	T	C	6: 88,849,196	Q376R	probably damaging	Het
Pudp	T	C	18: 50,568,575	D29G	probably benign	Het
Rrs1	C	A	1: 9,545,801		probably null	Het
S1pr3	T	C	13: 51,419,578	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 31,291,613	C23*	probably null	Het
Spag8	G	T	4: 43,652,826	R212S	probably benign	Het
Tacc2	A	G	7: 130,733,569		probably null	Het
Trmt1l	C	T	1: 151,428,959		probably benign	Het
Trpa1	A	T	1: 14,884,245	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ugt3a1	T	A	15: 9,291,973		probably benign	Het
Vmn2r23	T	G	6: 123,704,425	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,940,843	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,720,453	G766E	probably damaging	Het
Wnk1	T	C	6: 119,969,534	T553A	probably benign	Het
Xirp2	T	A	2: 67,510,770	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,660,614	D461E	probably damaging	Het

Other mutations in Hk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Hk2	APN	6	82729552	missense	possibly damaging	0.93
IGL01484:Hk2	APN	6	82736730	missense	probably damaging	1.00
IGL01786:Hk2	APN	6	82739553	missense	probably benign	0.13
IGL02164:Hk2	APN	6	82743939	splice site	probably null
IGL02293:Hk2	APN	6	82743975	missense	probably benign	0.00
IGL02861:Hk2	APN	6	82760158	missense	possibly damaging	0.73
IGL03029:Hk2	APN	6	82738333	missense	probably damaging	1.00
IGL03063:Hk2	APN	6	82739649	missense	probably damaging	1.00
IGL03063:Hk2	APN	6	82749232	missense	probably benign	0.23
IGL02799:Hk2	UTSW	6	82760238	missense	probably damaging	1.00
PIT4243001:Hk2	UTSW	6	82730877	missense	probably damaging	1.00
R0069:Hk2	UTSW	6	82736528	critical splice donor site	probably null
R0081:Hk2	UTSW	6	82734976	splice site	probably benign
R0981:Hk2	UTSW	6	82743968	missense	probably damaging	1.00
R1234:Hk2	UTSW	6	82760248	missense	possibly damaging	0.95
R1239:Hk2	UTSW	6	82749308	missense	probably damaging	1.00
R1695:Hk2	UTSW	6	82744951	missense	probably damaging	0.99
R1891:Hk2	UTSW	6	82749283	missense	probably benign	0.01
R3854:Hk2	UTSW	6	82736676	missense	possibly damaging	0.87
R3855:Hk2	UTSW	6	82736676	missense	possibly damaging	0.87
R3856:Hk2	UTSW	6	82736676	missense	possibly damaging	0.87
R3887:Hk2	UTSW	6	82734961	missense	possibly damaging	0.72
R4382:Hk2	UTSW	6	82735341	missense	probably null	1.00
R4684:Hk2	UTSW	6	82739648	missense	probably damaging	1.00
R4705:Hk2	UTSW	6	82739650	missense	possibly damaging	0.95
R4735:Hk2	UTSW	6	82744974	missense	probably benign	0.40
R5014:Hk2	UTSW	6	82743955	missense	possibly damaging	0.73
R5552:Hk2	UTSW	6	82730823	missense	possibly damaging	0.87
R5914:Hk2	UTSW	6	82736634	missense	probably benign
R6212:Hk2	UTSW	6	82728842	missense	probably benign	0.02
R6276:Hk2	UTSW	6	82743366	missense	probably benign	0.05
R6369:Hk2	UTSW	6	82736753	missense	probably damaging	1.00
R7175:Hk2	UTSW	6	82734849	missense	probably benign	0.00
R7340:Hk2	UTSW	6	82728892	missense	probably benign	0.00
R7383:Hk2	UTSW	6	82749295	missense	probably damaging	1.00
R7417:Hk2	UTSW	6	82743345	missense	probably damaging	1.00
R7481:Hk2	UTSW	6	82760169	missense	probably benign	0.09
R7495:Hk2	UTSW	6	82727365	missense	probably damaging	1.00
R7757:Hk2	UTSW	6	82742915	missense	possibly damaging	0.88
R8023:Hk2	UTSW	6	82728809	missense	probably benign	0.00
R8100:Hk2	UTSW	6	82730878	missense	probably benign	0.14
R8385:Hk2	UTSW	6	82729546	missense	probably benign	0.03
R8504:Hk2	UTSW	6	82744866	missense	possibly damaging	0.84
R8695:Hk2	UTSW	6	82739646	missense	probably benign	0.02
R8808:Hk2	UTSW	6	82728766	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTCCATGTAGCAGGCATTG -3'
(R):5'- CTTAATGTCCTGGCCAGTGGAAG -3'

Sequencing Primer
(F):5'- GCTTCCAGTGCCTGTCAATCG -3'
(R):5'- AAGTGTAGGTCTCAGCCTGAGC -3'

Posted On

2014-10-30