Mutagenetix > Incidental Mutation

Incidental Mutation 'R4576:Hkdc1'

342483

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

041799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62383137-62422491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62385843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 812 (D812G)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020277
AA Change: D812G

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: D812G

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

Meta Mutation Damage Score

0.5515

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (84/86)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	G	7: 139,978,130	I51T	probably damaging	Het
Adhfe1	A	T	1: 9,553,754	D160V	probably damaging	Het
AI314180	A	T	4: 58,834,708		probably benign	Het
Ano9	T	C	7: 141,104,138	Q538R	probably damaging	Het
Atp4a	A	G	7: 30,717,722	D510G	probably benign	Het
Atp8a1	T	C	5: 67,815,815		probably benign	Het
Auts2	C	T	5: 132,258,934	G70E	probably benign	Het
C7	A	G	15: 5,002,756	S658P	probably damaging	Het
Cdh9	T	C	15: 16,832,239	V404A	possibly damaging	Het
Cfap54	C	T	10: 93,043,228		probably null	Het
Chml	G	T	1: 175,686,940	Q129K	probably damaging	Het
Chst2	T	C	9: 95,405,171	H374R	probably damaging	Het
Cirbp	A	G	10: 80,170,241	K84E	probably damaging	Het
Cln6	G	T	9: 62,838,949	Q23H	probably benign	Het
Cntn5	A	G	9: 9,673,292	M801T	probably benign	Het
Dapk1	A	T	13: 60,721,822	M293L	probably benign	Het
Ddx11	A	G	17: 66,150,726	K869E	probably damaging	Het
Ddx17	A	T	15: 79,541,146	M108K	probably benign	Het
Dnaaf5	C	A	5: 139,185,639	A557D	probably damaging	Het
Edil3	T	C	13: 89,319,731	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,972,053	S271P	probably benign	Het
Enah	G	A	1: 181,919,563	S298L	possibly damaging	Het
Exoc7	T	C	11: 116,289,183	*685W	probably null	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Fgfbp1	C	T	5: 43,979,464	R162H	probably benign	Het
Foxj3	A	G	4: 119,621,663	S439G	unknown	Het
Fzd9	A	G	5: 135,250,312	S240P	probably damaging	Het
Gin1	A	G	1: 97,792,339	D442G	probably damaging	Het
Gm10804	C	T	2: 93,468,669		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grhl3	G	T	4: 135,561,251	T41K	probably damaging	Het
H6pd	A	T	4: 149,994,476	D243E	probably damaging	Het
Heatr6	T	A	11: 83,765,000	S306T	probably benign	Het
Hmcn1	G	T	1: 150,734,487	T1477K	probably benign	Het
Ift80	A	G	3: 68,950,530	S261P	possibly damaging	Het
Kcnu1	A	T	8: 25,890,020	D424V	probably benign	Het
Kctd1	A	G	18: 15,007,700	S658P	probably damaging	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
Kntc1	T	G	5: 123,765,955	L345R	probably damaging	Het
Llph-ps2	A	G	X: 13,218,451		noncoding transcript	Het
Lpxn	T	C	19: 12,833,290	I366T	probably benign	Het
Lrp1	ACAGGCGC	AC	10: 127,540,188		probably benign	Het
Maml3	G	A	3: 51,856,506	Q346*	probably null	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mlc1	G	A	15: 88,974,537	T136M	probably damaging	Het
Pcdhga9	A	C	18: 37,737,828	N237H	probably damaging	Het
Pde4dip	C	A	3: 97,754,249	E657D	probably damaging	Het
Pknox2	A	G	9: 36,923,548		probably benign	Het
Plcb3	C	T	19: 6,959,047		probably benign	Het
Plxnd1	G	A	6: 115,968,044	A99V	probably benign	Het
Pnpla2	T	C	7: 141,457,344	S87P	probably damaging	Het
Ppp1r14c	G	T	10: 3,366,912	K82N	probably damaging	Het
Pum3	G	A	19: 27,415,908	T389M	probably benign	Het
Pxdn	A	T	12: 30,011,923	T1165S	probably benign	Het
Rasgrf2	T	C	13: 91,896,410	D925G	possibly damaging	Het
Samhd1	A	T	2: 157,101,750	C615S	probably damaging	Het
Sec16a	A	T	2: 26,431,119	Y1320*	probably null	Het
Slco6b1	T	A	1: 96,988,697		noncoding transcript	Het
Slitrk6	C	A	14: 110,750,170	V702F	probably benign	Het
Spata31d1b	C	A	13: 59,716,861	H608N	probably damaging	Het
Srpr	T	C	9: 35,214,608	I394T	possibly damaging	Het
Svop	C	T	5: 114,065,682	V13M	probably damaging	Het
Tacc3	T	A	5: 33,661,497		probably benign	Het
Tango2	A	T	16: 18,301,528	D146E	probably damaging	Het
Thbs1	G	A	2: 118,119,416	R624Q	probably damaging	Het
Tmem161a	T	C	8: 70,182,063		probably null	Het
Tmem175	A	G	5: 108,644,602	D248G	possibly damaging	Het
Traf3ip2	A	G	10: 39,634,654	N308D	probably damaging	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Trip11	G	A	12: 101,886,240	Q521*	probably null	Het
Tssk5	C	T	15: 76,372,468	R280Q	probably benign	Het
Ttc16	A	T	2: 32,770,059	F246I	probably benign	Het
Unc79	T	C	12: 103,001,803		probably benign	Het
Vmn1r74	A	G	7: 11,846,769		probably null	Het
Vmn2r16	A	T	5: 109,363,799	Y624F	possibly damaging	Het
Zc3h4	G	A	7: 16,434,654	R896H	unknown	Het
Zfp941	T	A	7: 140,811,590	K619*	probably null	Het
Zfp970	A	T	2: 177,475,680	H349L	probably damaging	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
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
R6612:Hkdc1	UTSW	10	62395441	missense	possibly damaging	0.48
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'- TGTGTCATGTCACCCAAAGG -3'
(R):5'- CATGGTAATTTAGGCTAAGGCAG -3'

Sequencing Primer
(F):5'- GTAAGCTTGTCTCAGGGACTCAC -3'
(R):5'- CAGAGCCAGGTGACAAGACTCTG -3'

Posted On

2015-09-24