Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Hk2'

353510

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4684 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

82702006-82751435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82716629 bp (GRCm39)

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]

AlphaFold

O08528

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: 47,083,872 (GRCm39)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,313,791 (GRCm39)	I629T	unknown	Het
4933402N03Rik	T	C	7: 130,740,413 (GRCm39)	R268G	probably damaging	Het
Abca13	A	T	11: 9,384,193 (GRCm39)	R3882*	probably null	Het
Adamts3	T	G	5: 89,850,866 (GRCm39)	T558P	probably damaging	Het
Ano2	A	G	6: 125,767,304 (GRCm39)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,850,866 (GRCm39)		probably null	Het
Boc	C	T	16: 44,320,743 (GRCm39)	A306T	probably benign	Het
Capn10	T	C	1: 92,871,503 (GRCm39)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,025,086 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,929,372 (GRCm39)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 131,650,767 (GRCm39)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,687,779 (GRCm39)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,312,200 (GRCm39)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,276,781 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,623,237 (GRCm39)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,326,138 (GRCm39)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,476,944 (GRCm39)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,612,513 (GRCm39)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,242,446 (GRCm39)	I151K	probably damaging	Het
Gga1	C	A	15: 78,769,509 (GRCm39)	P161T	probably damaging	Het
Gm9923	T	A	10: 72,145,306 (GRCm39)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,194,688 (GRCm39)	F910L	probably damaging	Het
H2-T5	A	T	17: 36,476,750 (GRCm39)	H241Q	possibly damaging	Het
Helz	T	C	11: 107,539,971 (GRCm39)	V315A	probably damaging	Het
Htt	C	T	5: 35,010,109 (GRCm39)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,366,434 (GRCm39)	M1T	probably null	Het
Ik	T	C	18: 36,885,467 (GRCm39)	S287P	probably damaging	Het
Itga1	T	A	13: 115,185,906 (GRCm39)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Klk14	A	G	7: 43,341,392 (GRCm39)	I15V	probably benign	Het
Kng2	T	C	16: 22,806,391 (GRCm39)	I603V	possibly damaging	Het
Lama1	T	C	17: 68,080,773 (GRCm39)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,812,316 (GRCm39)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,504,243 (GRCm39)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,304,678 (GRCm39)	N233K	probably benign	Het
Mapk13	T	C	17: 28,989,023 (GRCm39)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm39)	F123L	probably damaging	Het
Myh4	G	C	11: 67,136,637 (GRCm39)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,585,574 (GRCm39)	N121K	probably benign	Het
Nostrin	C	T	2: 69,014,268 (GRCm39)	T408M	probably benign	Het
Oosp2	C	T	19: 11,627,017 (GRCm39)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,624,686 (GRCm39)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm39)	I202L	probably benign	Het
Pbld2	C	A	10: 62,893,476 (GRCm39)	R271S	probably damaging	Het
Pex6	C	T	17: 47,023,027 (GRCm39)	T201I	probably benign	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Pllp	T	A	8: 95,403,906 (GRCm39)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,444,902 (GRCm39)	S765G	probably benign	Het
Prkca	A	T	11: 107,852,434 (GRCm39)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,641,579 (GRCm39)	K35*	probably null	Het
Psmc2	A	G	5: 22,008,263 (GRCm39)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,331,951 (GRCm39)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,005,192 (GRCm39)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,468,581 (GRCm39)	T367K	probably benign	Het
Scube2	C	T	7: 109,409,920 (GRCm39)	R525H	probably damaging	Het
Sec14l4	T	C	11: 3,985,200 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,587,862 (GRCm39)	D751G	probably damaging	Het
Setd3	T	C	12: 108,074,949 (GRCm39)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,578,211 (GRCm39)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,243,721 (GRCm39)	S2P	probably benign	Het
Slfn8	A	T	11: 82,908,332 (GRCm39)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,576 (GRCm39)	I944V	probably benign	Het
Spg11	A	G	2: 121,895,557 (GRCm39)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,066,160 (GRCm39)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,063,844 (GRCm39)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,720,725 (GRCm39)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,384,597 (GRCm39)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,144,255 (GRCm39)	D649G	probably benign	Het
Tfam	A	G	10: 71,073,677 (GRCm39)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,796,571 (GRCm39)	C79*	probably null	Het
Trmt44	C	T	5: 35,715,387 (GRCm39)	R642H	probably benign	Het
Trpm3	G	A	19: 22,965,145 (GRCm39)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,044,003 (GRCm39)	V519A	probably benign	Het
Umodl1	T	C	17: 31,217,088 (GRCm39)	F1107L	probably benign	Het
Usp5	A	T	6: 124,794,919 (GRCm39)	V677E	probably damaging	Het
Utp20	A	T	10: 88,643,307 (GRCm39)	L605*	probably null	Het
Utrn	T	C	10: 12,620,984 (GRCm39)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm39)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,650,791 (GRCm39)	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,324 (GRCm39)	V1476A	probably damaging	Het
Vps13b	C	A	15: 35,879,967 (GRCm39)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,487 (GRCm39)	H2506Y	probably benign	Het
Vps37c	T	C	19: 10,690,132 (GRCm39)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,259,290 (GRCm39)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,738,607 (GRCm39)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm39)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,837,559 (GRCm39)	Y102H	probably benign	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
R1234:Hk2	UTSW	6	82,737,229 (GRCm39)	missense	possibly damaging	0.95
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
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'- CTCATGGAGACTTGGTAAGCAG -3'
(R):5'- CAATTGGGGAAGGCAGTGTC -3'

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

Posted On

2015-10-21