Mutagenetix > Incidental Mutation

Incidental Mutation 'R5914:Hk2'

461189

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

044111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82725025-82774454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82736634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 461 (R461K)

Ref Sequence

ENSEMBL: ENSMUSP00000125986 (fasta)

Gene Model

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

AlphaFold

O08528

Predicted Effect

probably benign
Transcript: ENSMUST00000000642
AA Change: R489K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: R489K

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 benign
Transcript: ENSMUST00000170833
AA Change: R461K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: R461K

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

0.0764

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

95% (87/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,538,370	R286H	possibly damaging	Het
Ank3	A	T	10: 69,992,944		probably benign	Het
Arhgap24	G	A	5: 102,552,159		probably null	Het
Arhgef2	T	C	3: 88,635,869	Y396H	probably benign	Het
Asap3	G	T	4: 136,241,409	G722C	probably benign	Het
Birc3	A	C	9: 7,857,342	*377E	probably null	Het
Cdc123	G	T	2: 5,798,363	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,547,691		probably null	Het
Cep97	T	C	16: 55,905,457	N689S	probably benign	Het
Cfap97	T	G	8: 46,181,858	S407A	probably damaging	Het
Cfh	A	T	1: 140,136,229	N436K	probably benign	Het
Chpf2	A	T	5: 24,592,423		probably benign	Het
Cnnm2	A	G	19: 46,763,177	T469A	probably benign	Het
Col6a3	T	A	1: 90,776,200	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,978,933	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,351,155	C602S	probably benign	Het
Dda1	T	A	8: 71,474,650		probably benign	Het
Dixdc1	T	C	9: 50,698,588		probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Emilin3	T	A	2: 160,909,070	N253I	probably damaging	Het
Epg5	T	A	18: 77,959,632		probably null	Het
Fam204a	A	T	19: 60,221,093	Y68*	probably null	Het
Fbln5	T	G	12: 101,760,743	D329A	possibly damaging	Het
Fkbp15	T	A	4: 62,327,810		probably null	Het
Fnbp4	C	G	2: 90,774,793		probably benign	Het
Foxn2	C	A	17: 88,462,710		probably null	Het
Frem1	T	C	4: 83,001,775	D448G	probably damaging	Het
Fzd9	T	C	5: 135,249,345	Y562C	probably benign	Het
Gcn1l1	A	G	5: 115,610,135		silent	Het
Gm6003	A	G	7: 33,165,266		noncoding transcript	Het
Gnl3	C	A	14: 31,016,896	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Ice1	A	G	13: 70,606,377	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,905	S129T	probably benign	Het
Ino80	G	A	2: 119,458,216	S3L	probably damaging	Het
Ints2	T	A	11: 86,222,174	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,611,831	M247T	probably benign	Het
Kpna6	T	C	4: 129,672,692		probably benign	Het
Krtap28-13	T	A	1: 83,061,323		probably benign	Het
Lgr4	T	A	2: 109,918,272	V51E	possibly damaging	Het
Map3k5	A	C	10: 20,104,255	E836D	probably benign	Het
Mapk11	T	C	15: 89,145,835	I193V	probably benign	Het
March10	A	T	11: 105,385,482	V660E	probably damaging	Het
Matn4	T	C	2: 164,393,224	E435G	probably damaging	Het
Mre11a	G	T	9: 14,811,936	R402M	probably damaging	Het
Msr1	C	T	8: 39,581,827	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,531,232	R99*	probably null	Het
Nkx6-1	C	T	5: 101,663,981	S85N	unknown	Het
Nop2	A	T	6: 125,134,728	E141D	probably benign	Het
Olfr1469	A	G	19: 13,410,962	H131R	probably benign	Het
Olfr906	G	C	9: 38,488,361	E111Q	probably damaging	Het
Paox	T	C	7: 140,129,188	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,630,936	V995A	probably benign	Het
Pdcd1	T	A	1: 94,040,825	K161N	probably benign	Het
Pfkfb2	C	A	1: 130,700,095	V372L	probably damaging	Het
Phldb1	G	A	9: 44,711,651	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,622,479	V198L	probably benign	Het
Pnpla8	T	A	12: 44,295,970	L41*	probably null	Het
Postn	C	T	3: 54,373,800	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,989	S642N	probably benign	Het
Ptpn23	G	A	9: 110,385,443		probably benign	Het
Ptprj	T	C	2: 90,453,340	N923S	possibly damaging	Het
Rai1	T	C	11: 60,187,804	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,080,554	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,451,850	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,234,790	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,629,540	L749F	possibly damaging	Het
Spon1	G	A	7: 114,030,821	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,898,560	E2K	probably benign	Het
Thoc5	A	G	11: 4,920,416	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,075,563	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,672,009	D221V	probably benign	Het
Trim30b	A	T	7: 104,357,365	S95T	probably damaging	Het
Trip12	T	C	1: 84,763,458	E571G	probably damaging	Het
Ttn	T	C	2: 76,951,312		probably null	Het
Ubp1	A	T	9: 113,956,739	R161W	probably benign	Het
Usp21	G	A	1: 171,282,171		probably benign	Het
Vmn1r61	T	A	7: 5,610,530	R262W	probably damaging	Het
Vmn2r67	A	T	7: 85,151,836	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,741,742	L784S	probably benign	Het
Vwc2	G	A	11: 11,154,244	V259M	probably damaging	Het
Zeb2	T	C	2: 44,997,052	I596M	probably benign	Het
Zgrf1	T	A	3: 127,561,023	L97H	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
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
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
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'- TGATTCAAGGTGGTCCTGTACAG -3'
(R):5'- TCTCCATAAGGCAGTGAGGAG -3'

Sequencing Primer
(F):5'- TAAGCACATCAGGGGTTTCC -3'
(R):5'- CAGTGAGGAGGCTGGTGC -3'

Posted On

2017-02-28