Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Hkdc1'

551688

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

045244-MU

Accession Numbers

Essential gene?

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

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62218916-62258270 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62229622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 685 (E685G)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

probably damaging
Transcript: ENSMUST00000020277
AA Change: E685G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: E685G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (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
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
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'- CCCAGAATCACATTTACATGCTCTC -3'
(R):5'- ATAGGGCACTTGTTCAAGACC -3'

Sequencing Primer
(F):5'- ACATGCTCTCTTCACACACG -3'
(R):5'- ACTTGTTCAAGACCGGCCAG -3'

Posted On

2019-05-15