Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Hk2'

715632

Institutional Source

Beutler Lab

Gene Symbol

Hk2

Ensembl Gene

ENSMUSG00000000628

Gene Name

hexokinase 2

Synonyms

HKII

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82725025-82774454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82728914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 803 (I803F)

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: I803F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: I803F

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: I775F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: I775F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl3	G	A	13: 58,019,459	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021	D17G	probably benign	Het
Map3k21	T	C	8: 125,924,164	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTACAGTGTCCCGTCCAC -3'
(R):5'- CCGCTTGTTTGTAGCTCAGTAG -3'

Sequencing Primer
(F):5'- CGCCCACCGTCACTTTGAG -3'
(R):5'- AGCTCAGTAGGAAGTAGTTTGTAG -3'

Posted On

2022-06-15