Mutagenetix > Incidental Mutation

Incidental Mutation 'R5086:Hkdc1'

387453

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

042675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R5086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62218916-62258270 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 62231053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

probably benign
Transcript: ENSMUST00000020277

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.3%

Validation Efficiency

99% (80/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	T	A	15: 80,847,901 (GRCm39)	M278K	probably damaging	Het
Ago1	T	C	4: 126,347,397 (GRCm39)	I147V	probably benign	Het
Ank1	T	C	8: 23,578,634 (GRCm39)	L261P	probably damaging	Het
Ank2	T	C	3: 126,740,997 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,968,020 (GRCm39)	V177A	possibly damaging	Het
Arhgap21	A	G	2: 20,853,645 (GRCm39)	S1906P	probably benign	Het
Asb1	A	G	1: 91,482,533 (GRCm39)	Y214C	probably benign	Het
BC049715	C	T	6: 136,817,429 (GRCm39)	T223M	probably damaging	Het
C1ra	T	A	6: 124,496,688 (GRCm39)	C375S	probably damaging	Het
Cdh26	C	T	2: 178,083,210 (GRCm39)	R26*	probably null	Het
Chordc1	A	G	9: 18,224,131 (GRCm39)	M304V	probably benign	Het
Cpne8	T	C	15: 90,532,771 (GRCm39)		probably benign	Het
Cracd	A	G	5: 77,004,971 (GRCm39)	E444G	unknown	Het
Csf1	T	C	3: 107,656,026 (GRCm39)	E335G	possibly damaging	Het
Ctnnd2	C	T	15: 30,683,493 (GRCm39)	P498L	possibly damaging	Het
Cyp4f18	C	T	8: 72,756,276 (GRCm39)	R100H	probably benign	Het
Dnaaf2	G	A	12: 69,244,060 (GRCm39)	R334C	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,529,189 (GRCm39)	S1071P	possibly damaging	Het
Dtnb	T	C	12: 3,682,942 (GRCm39)	V7A	probably benign	Het
Eif1	T	C	11: 100,211,552 (GRCm39)	I62T	probably damaging	Het
Fbxo44	T	A	4: 148,240,669 (GRCm39)	T145S	probably benign	Het
G530012D18Rik	G	C	1: 85,504,941 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,724,342 (GRCm39)	M17K	probably damaging	Het
Gm5860	T	A	4: 81,984,173 (GRCm39)		noncoding transcript	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gpbp1l1	C	A	4: 116,445,789 (GRCm39)	T297N	probably benign	Het
Greb1	C	T	12: 16,758,023 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,197,234 (GRCm39)		noncoding transcript	Het
Ighv16-1	T	A	12: 114,032,510 (GRCm39)	L97F	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Inpp5d	A	G	1: 87,633,686 (GRCm39)	H441R	probably damaging	Het
Iqgap2	G	T	13: 95,772,088 (GRCm39)	R1364S	probably benign	Het
Krtap20-2	G	T	16: 89,002,806 (GRCm39)	C2F	unknown	Het
Man2c1	T	A	9: 57,038,924 (GRCm39)	D111E	probably damaging	Het
Map1a	G	A	2: 121,134,985 (GRCm39)	E1696K	probably damaging	Het
Mdc1	T	A	17: 36,159,522 (GRCm39)	V634E	probably benign	Het
Mgam2-ps	A	G	6: 40,800,547 (GRCm39)		noncoding transcript	Het
Mllt3	T	A	4: 87,707,535 (GRCm39)	N68Y	probably damaging	Het
Mrps18a	T	A	17: 46,436,621 (GRCm39)	D143E	probably benign	Het
Myl12a	T	C	17: 71,301,611 (GRCm39)	D172G	possibly damaging	Het
Notch3	T	C	17: 32,362,308 (GRCm39)	N1439S	probably benign	Het
Npepps	T	C	11: 97,108,625 (GRCm39)	M764V	probably benign	Het
Or8d2b	T	C	9: 38,789,087 (GRCm39)	L205P	probably damaging	Het
Paxbp1	A	T	16: 90,812,104 (GRCm39)		probably benign	Het
Pcdhb7	A	T	18: 37,476,162 (GRCm39)	T433S	possibly damaging	Het
Pcdhb8	A	T	18: 37,489,159 (GRCm39)	Y279F	probably damaging	Het
Pim3	T	C	15: 88,748,606 (GRCm39)	L235P	probably damaging	Het
Plekha4	C	T	7: 45,203,082 (GRCm39)	S685F	possibly damaging	Het
Plekhg1	C	A	10: 3,853,649 (GRCm39)	H167Q	probably damaging	Het
Plekhn1	G	C	4: 156,306,881 (GRCm39)	P503A	probably benign	Het
Sar1a	T	C	10: 61,527,125 (GRCm39)	L181P	probably damaging	Het
Sec22a	G	T	16: 35,168,112 (GRCm39)	S133*	probably null	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Slc31a1	T	C	4: 62,306,190 (GRCm39)	S103P	probably damaging	Het
Spag6	A	C	2: 18,747,688 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,865,581 (GRCm39)	D1769V	probably damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tbc1d2b	A	G	9: 90,109,510 (GRCm39)	L322P	probably benign	Het
Tdrp	T	C	8: 14,024,590 (GRCm39)	E18G	possibly damaging	Het
Tlr3	T	A	8: 45,855,862 (GRCm39)	N106I	probably damaging	Het
Tmem104	T	A	11: 115,092,227 (GRCm39)	I112N	probably damaging	Het
Tmem14c	C	T	13: 41,174,598 (GRCm39)	T69I	probably benign	Het
Tmprss11g	G	A	5: 86,644,377 (GRCm39)	P156S	possibly damaging	Het
Ttn	A	T	2: 76,700,947 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,082 (GRCm39)	I296N	probably benign	Het
Vmn2r1	T	A	3: 63,997,418 (GRCm39)	V358D	probably benign	Het
Zc3h7b	T	C	15: 81,677,375 (GRCm39)	L892P	probably damaging	Het
Zfp366	A	G	13: 99,365,451 (GRCm39)	Q204R	probably benign	Het
Zfp598	C	A	17: 24,899,872 (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
R0751:Hkdc1	UTSW	10	62,234,452 (GRCm39)	missense	probably damaging	0.99
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
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'- AGACTGAATCACACCCTGGC -3'
(R):5'- TGGACCAAAGGCTTCAAGG -3'

Sequencing Primer
(F):5'- GCAACAGAGCAGGGACTCC -3'
(R):5'- TTCAAGGCCACCGACTGTG -3'

Posted On

2016-06-06