Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Hkdc1'

523688

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62383137-62422491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62395441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 628 (E628G)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020277]

AlphaFold

Q91W97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020277
AA Change: E628G

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: E628G

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	21	220	3.3e-71	PFAM
Pfam:Hexokinase_2	225	459	5.6e-79	PFAM
Pfam:Hexokinase_1	469	665	9.5e-76	PFAM
Pfam:Hexokinase_2	670	904	5.1e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159493

Meta Mutation Damage Score

0.1184

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to genotyping. Mice heterozygous for a knock-out allele exhibit impaired glucose tolerance and female-specific increased in hepatic triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,007	D320E	possibly damaging	Het
4930523C07Rik	A	C	1: 160,075,234	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,065,331	S87C	probably benign	Het
Arhgef37	T	C	18: 61,494,881	T664A	probably benign	Het
Arsi	A	G	18: 60,912,456	T73A	probably benign	Het
Cacnb2	A	T	2: 14,975,149	T274S	probably benign	Het
Cd244	A	G	1: 171,574,104	T133A	probably benign	Het
Ciz1	T	A	2: 32,377,311	S720T	possibly damaging	Het
Cxcr6	T	A	9: 123,810,720	I262N	probably damaging	Het
Cyp2a4	T	A	7: 26,308,647	F160I	probably benign	Het
Esrra	T	C	19: 6,911,852	T390A	probably benign	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Gm17079	T	A	14: 51,694,376	Q91L	possibly damaging	Het
Gm17079	C	A	14: 51,694,375	Q91H	probably damaging	Het
Got1	A	G	19: 43,504,803	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,740,998	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,818,873	I154V	probably benign	Het
Hmcn1	C	G	1: 150,595,118		probably null	Het
Hspbap1	T	G	16: 35,801,591	L102W	probably damaging	Het
Iqcb1	G	A	16: 36,871,661		probably benign	Het
Itga7	A	G	10: 128,948,993	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,984,071	D418V	probably benign	Het
Jakmip2	T	C	18: 43,557,367	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Kcnu1	A	G	8: 25,918,316	I52V	probably benign	Het
Kdm5a	T	C	6: 120,430,228	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,845,858		probably benign	Het
Mab21l3	A	G	3: 101,818,645	V345A	possibly damaging	Het
March10	A	T	11: 105,397,078	S133T	probably damaging	Het
Mccc1	T	C	3: 35,993,930	S115G	probably benign	Het
Mchr1	G	A	15: 81,237,870	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,590,035	I48F	probably benign	Het
Myo9a	T	A	9: 59,827,196	F687Y	probably damaging	Het
Nfrkb	T	A	9: 31,397,006	L216*	probably null	Het
Nrxn3	A	T	12: 89,813,332		probably benign	Het
Olfr746	A	T	14: 50,653,633	Y132F	probably damaging	Het
Olig2	T	A	16: 91,226,881	M161K	probably damaging	Het
Pcdh15	T	A	10: 74,185,378	N141K	probably damaging	Het
Pcdha4	T	C	18: 36,954,978	V738A	probably benign	Het
Pdgfra	T	C	5: 75,167,842	S212P	probably benign	Het
Plk3	G	A	4: 117,132,737	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,437,604	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,082	N2303K	probably damaging	Het
Rab25	G	A	3: 88,543,403	T117M	probably damaging	Het
Slc25a47	T	C	12: 108,855,978	V231A	probably benign	Het
Slx4	G	A	16: 3,985,276	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,106,759	A470V	probably benign	Het
Spa17	A	G	9: 37,605,794	F101S	probably benign	Het
Ssh1	C	T	5: 113,958,730	A217T	probably benign	Het
Synm	G	C	7: 67,733,516	T1466S	probably damaging	Het
Tbc1d19	A	G	5: 53,809,845	E29G	possibly damaging	Het
Teddm2	T	A	1: 153,850,445	T175S	probably benign	Het
Tet2	T	A	3: 133,487,335	H446L	possibly damaging	Het
Tmem110	T	A	14: 30,871,564		probably null	Het
Tpm3-rs7	G	T	14: 113,314,836	R54L	probably benign	Het
Ttc5	T	A	14: 50,785,469		probably null	Het
Tyk2	G	T	9: 21,108,016	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,911,397	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,252,065	H312Q	possibly damaging	Het
Zfp462	A	T	4: 55,012,324		probably null	Het

Other mutations in Hkdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Hkdc1	APN	10	62393789	missense	probably damaging	0.99
IGL01300:Hkdc1	APN	10	62395261	splice site	probably benign
IGL01415:Hkdc1	APN	10	62393859	missense	probably damaging	1.00
IGL01935:Hkdc1	APN	10	62400386	missense	probably damaging	0.97
IGL02903:Hkdc1	APN	10	62400191	critical splice donor site	probably null
IGL03100:Hkdc1	APN	10	62417829	missense	probably benign	0.00
IGL03154:Hkdc1	APN	10	62385705	missense	probably damaging	1.00
R0368:Hkdc1	UTSW	10	62411707	missense	probably null	0.04
R0549:Hkdc1	UTSW	10	62400240	missense	probably benign
R0667:Hkdc1	UTSW	10	62411865	splice site	probably benign
R0751:Hkdc1	UTSW	10	62398673	missense	probably damaging	0.99
R1779:Hkdc1	UTSW	10	62391383	missense	probably damaging	1.00
R1929:Hkdc1	UTSW	10	62417898	missense	probably benign	0.01
R2271:Hkdc1	UTSW	10	62417898	missense	probably benign	0.01
R3831:Hkdc1	UTSW	10	62400212	missense	probably benign
R4480:Hkdc1	UTSW	10	62391372	missense	probably benign
R4561:Hkdc1	UTSW	10	62409839	missense	probably benign	0.00
R4576:Hkdc1	UTSW	10	62385843	missense	possibly damaging	0.56
R4655:Hkdc1	UTSW	10	62400463	missense	probably benign	0.09
R4723:Hkdc1	UTSW	10	62400354	missense	probably benign	0.00
R4810:Hkdc1	UTSW	10	62411525	missense	probably benign	0.08
R5086:Hkdc1	UTSW	10	62395274	intron	probably benign
R5138:Hkdc1	UTSW	10	62398691	missense	probably damaging	1.00
R5781:Hkdc1	UTSW	10	62417933	missense	probably damaging	0.98
R5900:Hkdc1	UTSW	10	62408666	missense	possibly damaging	0.91
R5982:Hkdc1	UTSW	10	62393810	missense	probably benign
R6418:Hkdc1	UTSW	10	62383804	missense	possibly damaging	0.93
R6463:Hkdc1	UTSW	10	62393702	missense	probably damaging	1.00
R6673:Hkdc1	UTSW	10	62403606	missense	probably damaging	0.99
R6761:Hkdc1	UTSW	10	62408698	missense	possibly damaging	0.93
R6915:Hkdc1	UTSW	10	62401932	missense	possibly damaging	0.92
R7114:Hkdc1	UTSW	10	62393843	missense	probably damaging	1.00
R7395:Hkdc1	UTSW	10	62385699	missense	probably damaging	1.00
R8498:Hkdc1	UTSW	10	62385883	missense	probably benign
R8777:Hkdc1	UTSW	10	62398833	missense	possibly damaging	0.94
R8777-TAIL:Hkdc1	UTSW	10	62398833	missense	possibly damaging	0.94
R8894:Hkdc1	UTSW	10	62408621	missense	probably damaging	1.00
R8989:Hkdc1	UTSW	10	62393765	missense	probably damaging	1.00
R9331:Hkdc1	UTSW	10	62400335	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACGATTGCAACAATGTCCAG -3'
(R):5'- CATGCTGGGATGATGAAGGC -3'

Sequencing Primer
(F):5'- AGGTCAAACTCCTGCAAAGG -3'
(R):5'- CATGCTGGGATGATGAAGGCAAAAG -3'

Posted On

2018-06-22