Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Hk2'

385425

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82702006-82751435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82720936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 166 (Q166R)

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: Q194R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: Q194R

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

possibly damaging
Transcript: ENSMUST00000170833
AA Change: Q166R

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: Q166R

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

0.0703

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,896 (GRCm39)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,840,957 (GRCm39)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,112,438 (GRCm39)	T517A	probably benign	Het
Blk	T	G	14: 63,617,236 (GRCm39)	N257T	probably benign	Het
Brd4	A	T	17: 32,417,372 (GRCm39)		probably benign	Het
Calr4	C	T	4: 109,092,994 (GRCm39)	Q25*	probably null	Het
Cbl	T	C	9: 44,065,696 (GRCm39)		probably null	Het
Ccdc30	T	G	4: 119,250,824 (GRCm39)	H6P	possibly damaging	Het
Cd101	A	C	3: 100,911,139 (GRCm39)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,556,165 (GRCm39)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,803,952 (GRCm39)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,207,291 (GRCm39)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,925,765 (GRCm39)	M58K	probably benign	Het
Clip1	T	C	5: 123,755,793 (GRCm39)	E860G	probably damaging	Het
Col18a1	C	T	10: 76,906,794 (GRCm39)		probably null	Het
Cul7	A	G	17: 46,966,868 (GRCm39)	*650W	probably null	Het
Dkk4	C	T	8: 23,115,315 (GRCm39)	A55V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnai7	T	C	6: 145,128,992 (GRCm39)	E407G	probably damaging	Het
Dnase1	C	A	16: 3,856,880 (GRCm39)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,823,550 (GRCm39)	I1019S	probably benign	Het
Epha6	T	A	16: 59,486,942 (GRCm39)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,177,776 (GRCm39)	T408A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Galnt7	T	C	8: 57,998,414 (GRCm39)	E305G	probably damaging	Het
Garin1b	C	T	6: 29,326,723 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,389,821 (GRCm39)	V28E	probably damaging	Het
Gm10010	C	T	6: 128,177,556 (GRCm39)		noncoding transcript	Het
Gm4956	T	C	1: 21,363,821 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,193,506 (GRCm39)	V349G	probably benign	Het
Gtsf1l	C	T	2: 162,929,112 (GRCm39)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 81,953,974 (GRCm39)	G114A	probably benign	Het
Hook2	A	G	8: 85,718,006 (GRCm39)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,541,921 (GRCm39)	M222K	probably damaging	Het
Ints6	A	T	14: 62,997,640 (GRCm39)	F55Y	probably benign	Het
Kcnh1	A	G	1: 191,959,388 (GRCm39)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,746,748 (GRCm39)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,826,407 (GRCm39)		probably benign	Het
Msh2	A	T	17: 88,025,004 (GRCm39)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,251,534 (GRCm39)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,630,401 (GRCm39)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,512,185 (GRCm39)		probably benign	Het
Or2c1	T	A	16: 3,656,912 (GRCm39)	I25N	probably benign	Het
Or2h2	T	A	17: 37,396,446 (GRCm39)	I204F	probably benign	Het
Or8s8	T	C	15: 98,354,857 (GRCm39)	V222A	possibly damaging	Het
P3h3	T	A	6: 124,832,199 (GRCm39)	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,701,224 (GRCm39)	L837*	probably null	Het
Ppp2r1a	G	A	17: 21,179,101 (GRCm39)		probably null	Het
Rabgap1	T	A	2: 37,377,152 (GRCm39)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,337,455 (GRCm39)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,299,942 (GRCm39)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,355,161 (GRCm39)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,328,704 (GRCm39)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,980,770 (GRCm39)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,298,460 (GRCm39)	L315R	probably damaging	Het
Skic2	A	G	17: 35,066,401 (GRCm39)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,290,987 (GRCm39)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,651,866 (GRCm39)	K62*	probably null	Het
Sox30	T	C	11: 45,882,736 (GRCm39)	S589P	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Tecta	C	T	9: 42,284,538 (GRCm39)	C849Y	probably damaging	Het
Thbs1	T	A	2: 117,950,518 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tut4	T	C	4: 108,384,043 (GRCm39)		probably benign	Het
Tyk2	C	T	9: 21,027,126 (GRCm39)		probably null	Het
Tyw5	C	A	1: 57,446,004 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Wdfy4	A	T	14: 32,822,897 (GRCm39)	C1401S	probably benign	Het
Wiz	T	C	17: 32,578,340 (GRCm39)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,061,523 (GRCm39)	E475K	unknown	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp184	A	G	13: 22,142,594 (GRCm39)	D100G	probably benign	Het
Zfp990	T	A	4: 145,264,669 (GRCm39)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm39)	P189L	probably 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
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
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'- TTCTTGCACCAAAGGCCAAAG -3'
(R):5'- ACTTTAGGCCTGAGGTAGAGG -3'

Sequencing Primer
(F):5'- GGCCAAAGTTACTGTCCATCAAG -3'
(R):5'- TAGAGGGCTCTGCTGAGGAC -3'

Posted On

2016-05-10