Mutagenetix > Incidental Mutations

Incidental Mutation 'R4684:Hk2'

353510

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4684 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

82725025-82774454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82739648 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 301 (Y301C)

Ref Sequence

ENSEMBL: ENSMUSP00000000642 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000000642
AA Change: Y301C

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

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: Y301C

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: Y273C

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

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: Y273C

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846		probably benign	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145	V315A	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930	Y102H	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTCATGGAGACTTGGTAAGCAG -3'
(R):5'- CAATTGGGGAAGGCAGTGTC -3'

Sequencing Primer
(F):5'- CTTGGTAAGCAGAGAGGCAGTG -3'
(R):5'- GGGAAGATCTGTACCTTGATCTAC -3'

Posted On

2015-10-21