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: 0.120) question?

Stock #

R0751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62218916-62258270 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62234452 bp (GRCm39)

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: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chtf8	A	G	8: 107,613,109 (GRCm39)		probably null	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,516,762 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Ssb	T	A	2: 69,700,909 (GRCm39)	S330T	probably benign	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het

Other mutations in Hkdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Hkdc1	APN	10	62,229,568 (GRCm39)	missense	probably damaging	0.99
IGL01300:Hkdc1	APN	10	62,231,040 (GRCm39)	splice site	probably benign
IGL01415:Hkdc1	APN	10	62,229,638 (GRCm39)	missense	probably damaging	1.00
IGL01935:Hkdc1	APN	10	62,236,165 (GRCm39)	missense	probably damaging	0.97
IGL02903:Hkdc1	APN	10	62,235,970 (GRCm39)	critical splice donor site	probably null
IGL03100:Hkdc1	APN	10	62,253,608 (GRCm39)	missense	probably benign	0.00
IGL03154:Hkdc1	APN	10	62,221,484 (GRCm39)	missense	probably damaging	1.00
R0368:Hkdc1	UTSW	10	62,247,486 (GRCm39)	missense	probably null	0.04
R0549:Hkdc1	UTSW	10	62,236,019 (GRCm39)	missense	probably benign
R0667:Hkdc1	UTSW	10	62,247,644 (GRCm39)	splice site	probably benign
R1779:Hkdc1	UTSW	10	62,227,162 (GRCm39)	missense	probably damaging	1.00
R1929:Hkdc1	UTSW	10	62,253,677 (GRCm39)	missense	probably benign	0.01
R2271:Hkdc1	UTSW	10	62,253,677 (GRCm39)	missense	probably benign	0.01
R3831:Hkdc1	UTSW	10	62,235,991 (GRCm39)	missense	probably benign
R4480:Hkdc1	UTSW	10	62,227,151 (GRCm39)	missense	probably benign
R4561:Hkdc1	UTSW	10	62,245,618 (GRCm39)	missense	probably benign	0.00
R4576:Hkdc1	UTSW	10	62,221,622 (GRCm39)	missense	possibly damaging	0.56
R4655:Hkdc1	UTSW	10	62,236,242 (GRCm39)	missense	probably benign	0.09
R4723:Hkdc1	UTSW	10	62,236,133 (GRCm39)	missense	probably benign	0.00
R4810:Hkdc1	UTSW	10	62,247,304 (GRCm39)	missense	probably benign	0.08
R5086:Hkdc1	UTSW	10	62,231,053 (GRCm39)	intron	probably benign
R5138:Hkdc1	UTSW	10	62,234,470 (GRCm39)	missense	probably damaging	1.00
R5781:Hkdc1	UTSW	10	62,253,712 (GRCm39)	missense	probably damaging	0.98
R5900:Hkdc1	UTSW	10	62,244,445 (GRCm39)	missense	possibly damaging	0.91
R5982:Hkdc1	UTSW	10	62,229,589 (GRCm39)	missense	probably benign
R6418:Hkdc1	UTSW	10	62,219,583 (GRCm39)	missense	possibly damaging	0.93
R6463:Hkdc1	UTSW	10	62,229,481 (GRCm39)	missense	probably damaging	1.00
R6612:Hkdc1	UTSW	10	62,231,220 (GRCm39)	missense	possibly damaging	0.48
R6673:Hkdc1	UTSW	10	62,239,385 (GRCm39)	missense	probably damaging	0.99
R6761:Hkdc1	UTSW	10	62,244,477 (GRCm39)	missense	possibly damaging	0.93
R6915:Hkdc1	UTSW	10	62,237,711 (GRCm39)	missense	possibly damaging	0.92
R7114:Hkdc1	UTSW	10	62,229,622 (GRCm39)	missense	probably damaging	1.00
R7395:Hkdc1	UTSW	10	62,221,478 (GRCm39)	missense	probably damaging	1.00
R8498:Hkdc1	UTSW	10	62,221,662 (GRCm39)	missense	probably benign
R8777:Hkdc1	UTSW	10	62,234,612 (GRCm39)	missense	possibly damaging	0.94
R8777-TAIL:Hkdc1	UTSW	10	62,234,612 (GRCm39)	missense	possibly damaging	0.94
R8894:Hkdc1	UTSW	10	62,244,400 (GRCm39)	missense	probably damaging	1.00
R8989:Hkdc1	UTSW	10	62,229,544 (GRCm39)	missense	probably damaging	1.00
R9331:Hkdc1	UTSW	10	62,236,114 (GRCm39)	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