Mutagenetix > Incidental Mutation

Incidental Mutation 'R1234:Hk2'

152381

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

039302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82702006-82751435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82737229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 28 (H28Y)

Ref Sequence

ENSEMBL: ENSMUSP00000000642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000642] [ENSMUST00000169270] [ENSMUST00000170833]

AlphaFold

O08528

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000642
AA Change: H28Y

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: H28Y

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: ENSMUST00000168990

Predicted Effect

probably benign
Transcript: ENSMUST00000169270

Predicted Effect

probably benign
Transcript: ENSMUST00000170833

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccn1	A	G	3: 145,355,594 (GRCm39)		probably benign	Het
Cd300e	T	A	11: 114,946,192 (GRCm39)	I90F	probably damaging	Het
Dclk1	T	C	3: 55,397,298 (GRCm39)	I528T	probably damaging	Het
Dnajc13	T	C	9: 104,091,356 (GRCm39)	N645S	possibly damaging	Het
Efhb	A	T	17: 53,758,615 (GRCm39)	Y340*	probably null	Het
Fhod1	T	C	8: 106,063,795 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,629,405 (GRCm39)	R951*	probably null	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Mapkapk2	G	A	1: 130,983,513 (GRCm39)	R334*	probably null	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Psg18	A	T	7: 18,083,115 (GRCm39)	S347T	probably damaging	Het
Ptk6	C	T	2: 180,844,233 (GRCm39)	R22Q	possibly damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,872,607 (GRCm39)	F415S	probably damaging	Het
Stab1	A	G	14: 30,872,193 (GRCm39)	L1198P	probably damaging	Het
Tcf23	T	C	5: 31,127,566 (GRCm39)	Y123H	probably damaging	Het
Vars2	T	C	17: 35,978,038 (GRCm39)	N43S	probably damaging	Het
Vmn2r79	A	T	7: 86,653,307 (GRCm39)	E524V	possibly damaging	Het
Xrcc1	T	C	7: 24,267,270 (GRCm39)	V373A	possibly damaging	Het

Other mutations in Hk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Hk2	APN	6	82,706,533 (GRCm39)	missense	possibly damaging	0.93
IGL01484:Hk2	APN	6	82,713,711 (GRCm39)	missense	probably damaging	1.00
IGL01786:Hk2	APN	6	82,716,534 (GRCm39)	missense	probably benign	0.13
IGL02164:Hk2	APN	6	82,720,920 (GRCm39)	splice site	probably null
IGL02293:Hk2	APN	6	82,720,956 (GRCm39)	missense	probably benign	0.00
IGL02861:Hk2	APN	6	82,737,139 (GRCm39)	missense	possibly damaging	0.73
IGL03029:Hk2	APN	6	82,715,314 (GRCm39)	missense	probably damaging	1.00
IGL03063:Hk2	APN	6	82,726,213 (GRCm39)	missense	probably benign	0.23
IGL03063:Hk2	APN	6	82,716,630 (GRCm39)	missense	probably damaging	1.00
IGL02799:Hk2	UTSW	6	82,737,219 (GRCm39)	missense	probably damaging	1.00
PIT4243001:Hk2	UTSW	6	82,707,858 (GRCm39)	missense	probably damaging	1.00
R0069:Hk2	UTSW	6	82,713,509 (GRCm39)	critical splice donor site	probably null
R0081:Hk2	UTSW	6	82,711,957 (GRCm39)	splice site	probably benign
R0981:Hk2	UTSW	6	82,720,949 (GRCm39)	missense	probably damaging	1.00
R1239:Hk2	UTSW	6	82,726,289 (GRCm39)	missense	probably damaging	1.00
R1695:Hk2	UTSW	6	82,721,932 (GRCm39)	missense	probably damaging	0.99
R1891:Hk2	UTSW	6	82,726,264 (GRCm39)	missense	probably benign	0.01
R2338:Hk2	UTSW	6	82,708,096 (GRCm39)	missense	probably damaging	1.00
R3854:Hk2	UTSW	6	82,713,657 (GRCm39)	missense	possibly damaging	0.87
R3855:Hk2	UTSW	6	82,713,657 (GRCm39)	missense	possibly damaging	0.87
R3856:Hk2	UTSW	6	82,713,657 (GRCm39)	missense	possibly damaging	0.87
R3887:Hk2	UTSW	6	82,711,942 (GRCm39)	missense	possibly damaging	0.72
R4382:Hk2	UTSW	6	82,712,322 (GRCm39)	missense	probably null	1.00
R4684:Hk2	UTSW	6	82,716,629 (GRCm39)	missense	probably damaging	1.00
R4705:Hk2	UTSW	6	82,716,631 (GRCm39)	missense	possibly damaging	0.95
R4735:Hk2	UTSW	6	82,721,955 (GRCm39)	missense	probably benign	0.40
R5014:Hk2	UTSW	6	82,720,936 (GRCm39)	missense	possibly damaging	0.73
R5552:Hk2	UTSW	6	82,707,804 (GRCm39)	missense	possibly damaging	0.87
R5914:Hk2	UTSW	6	82,713,615 (GRCm39)	missense	probably benign
R6212:Hk2	UTSW	6	82,705,823 (GRCm39)	missense	probably benign	0.02
R6276:Hk2	UTSW	6	82,720,347 (GRCm39)	missense	probably benign	0.05
R6369:Hk2	UTSW	6	82,713,734 (GRCm39)	missense	probably damaging	1.00
R7175:Hk2	UTSW	6	82,711,830 (GRCm39)	missense	probably benign	0.00
R7340:Hk2	UTSW	6	82,705,873 (GRCm39)	missense	probably benign	0.00
R7383:Hk2	UTSW	6	82,726,276 (GRCm39)	missense	probably damaging	1.00
R7417:Hk2	UTSW	6	82,720,326 (GRCm39)	missense	probably damaging	1.00
R7481:Hk2	UTSW	6	82,737,150 (GRCm39)	missense	probably benign	0.09
R7495:Hk2	UTSW	6	82,704,346 (GRCm39)	missense	probably damaging	1.00
R7757:Hk2	UTSW	6	82,719,896 (GRCm39)	missense	possibly damaging	0.88
R8023:Hk2	UTSW	6	82,705,790 (GRCm39)	missense	probably benign	0.00
R8100:Hk2	UTSW	6	82,707,859 (GRCm39)	missense	probably benign	0.14
R8385:Hk2	UTSW	6	82,706,527 (GRCm39)	missense	probably benign	0.03
R8504:Hk2	UTSW	6	82,721,847 (GRCm39)	missense	possibly damaging	0.84
R8695:Hk2	UTSW	6	82,716,627 (GRCm39)	missense	probably benign	0.02
R8808:Hk2	UTSW	6	82,705,747 (GRCm39)	missense	probably benign	0.01
R8898:Hk2	UTSW	6	82,715,379 (GRCm39)	missense	probably damaging	0.98
R9037:Hk2	UTSW	6	82,720,339 (GRCm39)	missense	probably benign	0.39
R9474:Hk2	UTSW	6	82,705,895 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGTAGCTTCCAAGCAGTCAGACG -3'
(R):5'- TGCTCCAGCACAGGGACATTCAAC -3'

Sequencing Primer
(F):5'- TAacacacacacacacacacac -3'
(R):5'- AAaaagacagggtcttacggtg -3'

Posted On

2014-01-29