Mutagenetix > Incidental Mutation

Incidental Mutation 'R6761:Hkdc1'

531710

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62383137-62422491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62408698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 203 (I203N)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020277
AA Change: I203N

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: I203N

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (34/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,948	V61A	probably benign	Het
Actr3b	C	T	5: 25,825,139	S67F	probably damaging	Het
Ap3m1	T	C	14: 21,038,028	M107V	probably benign	Het
Ccdc27	C	T	4: 154,037,698	G241D	unknown	Het
Cit	T	G	5: 115,908,675	D382E	probably damaging	Het
Clec3b	G	T	9: 123,156,939	G134V	probably damaging	Het
Cntnap2	T	A	6: 47,049,373	H44Q	probably benign	Het
Dst	T	C	1: 34,214,550	S4300P	probably damaging	Het
Ebna1bp2	C	T	4: 118,623,361	R134*	probably null	Het
Efcab14	T	C	4: 115,738,827	S57P	probably damaging	Het
Exosc2	T	C	2: 31,670,863		probably null	Het
Fam213a	T	A	14: 40,994,621	H198L	probably damaging	Het
Hfm1	T	C	5: 106,895,279	T630A	probably damaging	Het
Hltf	T	A	3: 20,083,832		probably null	Het
Igkv3-2	G	T	6: 70,698,517		probably benign	Het
Mslnl	A	G	17: 25,746,073	D471G	probably damaging	Het
Msmo1	A	G	8: 64,719,027	Y281H	probably benign	Het
Nid1	A	G	13: 13,482,035	T584A	probably benign	Het
Olfr628	C	T	7: 103,732,484	A186V	probably damaging	Het
Olfr908	A	G	9: 38,516,265	T78A	probably damaging	Het
Otoa	G	A	7: 121,121,950	G396D	probably damaging	Het
Prss45	G	T	9: 110,840,419	A197S	probably damaging	Het
Rpap2	T	A	5: 107,620,238	I314N	probably benign	Het
Sash1	A	G	10: 8,744,522	M458T	probably damaging	Het
Slc44a5	A	G	3: 154,240,077		probably null	Het
Sorbs2	T	C	8: 45,772,614	S254P	probably damaging	Het
Sycp2	T	C	2: 178,374,351		probably null	Het
Tedc1	A	G	12: 113,161,714	D252G	probably damaging	Het
Uty	T	C	Y: 1,186,790	H145R	probably damaging	Homo
Vmn1r9	A	G	6: 57,071,306	Y122C	probably benign	Het
Wdfy4	T	A	14: 33,095,951	N1491Y	possibly damaging	Het
Wdr37	T	C	13: 8,849,648	T140A	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
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
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'- ATAGATGCAGGCTTCGCATC -3'
(R):5'- ACAGCAGTCATTCCCTCAGC -3'

Sequencing Primer
(F):5'- CCGTGTTGCTCTGCAGAAAAATG -3'
(R):5'- GTCATTCCCTCAGCGCAGAAG -3'

Posted On

2018-08-29