Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Hk2'

355108

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

041953-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82702006-82751435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82716631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 300 (M300I)

Ref Sequence

ENSEMBL: ENSMUSP00000000642 (fasta)

Gene Model

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

AlphaFold

O08528

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000642
AA Change: M300I

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

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: M300I

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: M272I

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: M272I

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

0.5685

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,369 (GRCm39)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,056,631 (GRCm39)	T123A	possibly damaging	Het
Abca4	T	C	3: 121,899,019 (GRCm39)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,929,040 (GRCm39)	S4P	possibly damaging	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Ahnak	C	A	19: 8,994,270 (GRCm39)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,538,192 (GRCm39)	P483L	probably damaging	Het
Atp11a	C	G	8: 12,863,118 (GRCm39)	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,361,319 (GRCm39)	P476H	probably damaging	Het
Bltp1	C	T	3: 37,096,038 (GRCm39)	T1108I	probably benign	Het
C2cd3	A	G	7: 100,044,395 (GRCm39)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm39)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,024,840 (GRCm39)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,372,586 (GRCm39)	I107T	probably benign	Het
Cela2a	T	C	4: 141,548,722 (GRCm39)	N138S	probably benign	Het
Cfap61	A	C	2: 145,877,122 (GRCm39)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,345,612 (GRCm39)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,685,944 (GRCm39)	G683W	unknown	Het
Col4a2	G	A	8: 11,363,504 (GRCm39)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,551,283 (GRCm39)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,484 (GRCm39)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm39)	T690A	probably benign	Het
Cx3cl1	A	T	8: 95,506,835 (GRCm39)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,456,717 (GRCm39)	R36C	probably benign	Het
Ddx51	T	C	5: 110,803,174 (GRCm39)	V269A	probably damaging	Het
Dipk2a	T	C	9: 94,402,688 (GRCm39)	N325D	possibly damaging	Het
Dlst	G	T	12: 85,165,616 (GRCm39)		probably null	Het
Dmkn	G	C	7: 30,463,406 (GRCm39)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,304,948 (GRCm39)	I330T	probably damaging	Het
Dock3	G	A	9: 106,902,535 (GRCm39)	H292Y	probably damaging	Het
Ell	A	G	8: 71,031,584 (GRCm39)	D94G	possibly damaging	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Fam3d	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Fcgbp	A	G	7: 27,806,721 (GRCm39)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,393,344 (GRCm39)		probably benign	Het
Gas2l1	G	A	11: 5,010,867 (GRCm39)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,410,966 (GRCm39)	E86*	probably null	Het
Glyat	T	C	19: 12,628,661 (GRCm39)	L152P	possibly damaging	Het
Gm17330	T	C	12: 24,018,783 (GRCm39)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,157,591 (GRCm39)		noncoding transcript	Het
Gpatch1	A	T	7: 34,998,730 (GRCm39)		probably null	Het
Gpr4	T	C	7: 18,956,819 (GRCm39)	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,943,758 (GRCm39)	E214K	probably benign	Het
Hdac7	G	T	15: 97,709,468 (GRCm39)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,729,247 (GRCm39)		probably benign	Het
Ighv1-61	T	C	12: 115,322,899 (GRCm39)	Y71C	probably damaging	Het
Il36b	T	C	2: 24,044,630 (GRCm39)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,265,711 (GRCm39)	S152I	probably damaging	Het
Jag1	C	A	2: 136,938,229 (GRCm39)	W257L	probably damaging	Het
Jak2	T	A	19: 29,272,315 (GRCm39)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,690,046 (GRCm39)	D247G	probably benign	Het
Kif15	A	G	9: 122,789,058 (GRCm39)		probably null	Het
Kndc1	A	G	7: 139,510,036 (GRCm39)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,059,170 (GRCm39)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,539,138 (GRCm39)		probably benign	Het
Lypd10	T	A	7: 24,412,934 (GRCm39)	L114Q	probably damaging	Het
Mfsd4a	A	T	1: 131,981,309 (GRCm39)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,550 (GRCm39)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,941,266 (GRCm39)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,760,340 (GRCm39)	I86T	probably damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm39)	T117A	probably damaging	Het
Nol11	A	G	11: 107,075,544 (GRCm39)		probably benign	Het
Nucb2	G	A	7: 116,139,262 (GRCm39)		probably null	Het
Nup58	G	T	14: 60,488,664 (GRCm39)	P19T	unknown	Het
Odf2	T	A	2: 29,794,046 (GRCm39)	L301Q	probably damaging	Het
Oog4	T	C	4: 143,165,445 (GRCm39)	Y234C	probably benign	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Papln	T	C	12: 83,823,982 (GRCm39)		probably null	Het
Paqr6	C	T	3: 88,273,236 (GRCm39)	A76V	probably benign	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,333,743 (GRCm39)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,705,368 (GRCm39)	Y189*	probably null	Het
Pknox2	A	T	9: 36,834,934 (GRCm39)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,935,581 (GRCm39)	L1735R	probably damaging	Het
Polm	T	A	11: 5,787,663 (GRCm39)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,328,265 (GRCm39)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,869,294 (GRCm39)	W414R	probably benign	Het
Rassf1	A	G	9: 107,435,066 (GRCm39)	D187G	probably benign	Het
Rhag	T	C	17: 41,147,329 (GRCm39)	I397T	probably benign	Het
Rnft2	A	G	5: 118,366,928 (GRCm39)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,447,196 (GRCm39)	F360S	probably damaging	Het
Ror2	C	T	13: 53,271,333 (GRCm39)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,247,084 (GRCm39)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,050,660 (GRCm39)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,031,289 (GRCm39)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tmem100	C	T	11: 89,926,389 (GRCm39)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,737,164 (GRCm39)	T350A	probably benign	Het
Ubr4	C	T	4: 139,177,840 (GRCm39)	T3241M	probably damaging	Het
Unc13d	A	T	11: 115,964,214 (GRCm39)	M350K	possibly damaging	Het
Vit	T	C	17: 78,932,543 (GRCm39)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Zbtb12	T	A	17: 35,115,377 (GRCm39)	H387Q	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
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
R4684:Hk2	UTSW	6	82,716,629 (GRCm39)	missense	probably damaging	1.00
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