Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Hk2'

512850

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82725025-82774454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82736753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 449 (S449R)

Ref Sequence

ENSEMBL: ENSMUSP00000000642 (fasta)

Gene Model

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

AlphaFold

O08528

Predicted Effect

probably damaging
Transcript: ENSMUST00000000642
AA Change: S449R

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

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: S449R

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

probably damaging
Transcript: ENSMUST00000170833
AA Change: S421R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: S421R

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

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
R2338:Hk2	UTSW	6	82731115	missense	probably damaging	1.00
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
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
R8898:Hk2	UTSW	6	82738398	missense	probably damaging	0.98
R9037:Hk2	UTSW	6	82743358	missense	probably benign	0.39
R9474:Hk2	UTSW	6	82728914	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGGCAACATCTTCACAGGG -3'
(R):5'- GCTGGGCCTTTATATTAGTCACC -3'

Sequencing Primer
(F):5'- ACATCTTCACAGGGGCGGC -3'
(R):5'- GAGATACAGACACCACTTGCTTCTG -3'

Posted On

2018-04-27