Mutagenetix > Incidental Mutation

Incidental Mutation 'R4480:Hkdc1'

331436

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

041737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R4480 (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 62391372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 769 (I769V)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

probably benign
Transcript: ENSMUST00000020277
AA Change: I769V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: I769V

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

0.0593

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

95% (40/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,005,239	T553A	possibly damaging	Het
Adgrb3	A	T	1: 25,111,748	F1135I	probably damaging	Het
Arfgef3	A	T	10: 18,600,600	F1490L	probably damaging	Het
Begain	A	G	12: 109,034,123	Y446H	probably damaging	Het
Cdh15	A	G	8: 122,864,676	H517R	probably benign	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dip2b	C	T	15: 100,186,301	T935M	probably damaging	Het
Eif2s2	T	C	2: 154,888,270	T36A	probably benign	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbxo10	T	C	4: 45,048,470	Y555C	probably damaging	Het
Fpr2	C	T	17: 17,893,753	T337I	probably benign	Het
Frem3	A	T	8: 80,611,357	Q93L	probably benign	Het
Gapdh	A	G	6: 125,163,182	V119A	possibly damaging	Het
Gm3159	T	C	14: 4,398,584	Y92H	probably damaging	Het
Ifne	T	C	4: 88,879,601	*193W	probably null	Het
Katna1	T	C	10: 7,738,830	V32A	probably damaging	Het
Nup107	T	C	10: 117,761,332	I673V	probably benign	Het
Nup188	T	A	2: 30,322,129		probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1510	G	A	14: 52,410,308	A188V	probably damaging	Het
Olfr330	G	T	11: 58,529,801	P62T	probably damaging	Het
Pcdhb5	T	A	18: 37,320,752	S62T	probably benign	Het
Plekha5	T	C	6: 140,526,479	V44A	probably damaging	Het
Psg18	C	T	7: 18,350,862	S103N	probably benign	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Ptprs	A	G	17: 56,426,404	V804A	possibly damaging	Het
Rab35	C	A	5: 115,637,764	S34*	probably null	Het
Slco6d1	T	A	1: 98,507,574	Y671*	probably null	Het
Sostdc1	A	G	12: 36,317,166	I114V	probably damaging	Het
Tecta	A	G	9: 42,373,233	F852S	possibly damaging	Het
Tmem179	T	C	12: 112,503,303	E21G	probably benign	Het
Tmem2	A	G	19: 21,815,489	Q703R	probably benign	Het
Usp17la	T	A	7: 104,860,690	H167Q	probably benign	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Wdr17	A	G	8: 54,664,964		probably null	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zfp985	A	G	4: 147,584,079	D468G	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
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
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'- ACTGGAGTCTTCCTACCCAC -3'
(R):5'- TGACCGTGTGACTTGCTTTC -3'

Sequencing Primer
(F):5'- ACTGCTGGATGGCTTCAAAC -3'
(R):5'- GACTTGCTTTCCACACCCAGAC -3'

Posted On

2015-07-21