Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Hkdc1'

70337

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

038931-MU

Accession Numbers

Essential gene?

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

Stock #

R0751 (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 62398673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 581 (D581G)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

probably damaging
Transcript: ENSMUST00000020277
AA Change: D581G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: D581G

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

0.5258

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alox12	T	C	11: 70,246,950	I455V	probably benign	Het
Ankrd28	A	G	14: 31,764,268	L89P	probably damaging	Het
Aqp9	A	T	9: 71,138,205	C41S	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Aspm	A	T	1: 139,456,898		probably benign	Het
Cacfd1	T	C	2: 27,018,981		probably null	Het
Cd33	T	C	7: 43,532,121	D205G	probably damaging	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chtf8	A	G	8: 106,886,477		probably null	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Clock	A	T	5: 76,229,361	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Derl2	T	C	11: 71,014,547		probably null	Het
Dnah7c	A	G	1: 46,465,905	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,674,842		probably null	Het
Dusp3	A	T	11: 101,981,728	S106T	probably benign	Het
Eftud2	A	G	11: 102,839,253	V897A	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Fbxo33	A	C	12: 59,219,092	F130V	probably damaging	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fig4	T	C	10: 41,272,982	D158G	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,092,099		probably benign	Het
Gabra6	C	A	11: 42,315,017	R336S	probably benign	Het
Gm9268	A	G	7: 43,047,409	Y630C	probably damaging	Het
Iqgap1	A	G	7: 80,725,573		probably benign	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lcp1	A	T	14: 75,199,387	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,256,350	V392A	possibly damaging	Het
Mavs	A	T	2: 131,246,764	Y496F	probably damaging	Het
Mpi	A	T	9: 57,550,614	S102T	probably damaging	Het
Mroh9	G	A	1: 163,066,124	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,320,686	S161C	probably damaging	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,423,014	A182D	probably benign	Het
Ntsr2	G	T	12: 16,654,030	K91N	probably damaging	Het
Obscn	A	G	11: 59,081,819	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,113,476		probably benign	Het
Olfr385	G	T	11: 73,589,144	T198K	probably benign	Het
Olfr525	G	A	7: 140,323,325	V209I	probably benign	Het
Pcdha8	T	C	18: 36,994,070	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pimreg	C	A	11: 72,043,113	Q22K	probably benign	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ppip5k2	A	T	1: 97,749,652	C306*	probably null	Het
Ptprc	A	G	1: 138,092,930	Y588H	probably damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc12a4	A	T	8: 105,951,900	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,524,195		probably benign	Het
Smim4	G	T	14: 31,088,996		probably benign	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Ssb	T	A	2: 69,870,565	S330T	probably benign	Het
Stard9	G	T	2: 120,697,485	V1408F	probably benign	Het
Sumf2	A	T	5: 129,850,005	T61S	probably benign	Het
Sypl2	T	C	3: 108,216,756	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,139,883	D483E	probably damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Tradd	T	C	8: 105,259,771	E123G	probably damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Ttc30a2	C	T	2: 75,978,031	A46T	probably damaging	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,928,035	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,954,380	V589M	possibly damaging	Het
Vrk2	A	G	11: 26,483,331		probably benign	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
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
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'- CAGAGGAACCTTGAAATGGCCCTG -3'
(R):5'- GCTGGAAGAACCTTGAAGACACCG -3'

Sequencing Primer
(F):5'- AGGGCCTTCTTACCTTGTCG -3'
(R):5'- AAGGAAAGTTCCTTGCCCTG -3'

Posted On

2013-09-30