Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Hkdc1'

343105

Institutional Source

Beutler Lab

Gene Symbol

Hkdc1

Ensembl Gene

ENSMUSG00000020080

Gene Name

hexokinase domain containing 1

Synonyms

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62383137-62422491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62409839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 181 (Q181R)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

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

AlphaFold

Q91W97

Predicted Effect

probably benign
Transcript: ENSMUST00000020277
AA Change: Q181R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: Q181R

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: ENSMUST00000159454

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	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
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'- GCGCTCCTCTTCACTACAAAG -3'
(R):5'- GCACTGAACCTGCCTAGCATAC -3'

Sequencing Primer
(F):5'- ACCAAGGTGAACCCCTT -3'
(R):5'- ATTAGAAACAAAATCAAACCCCAAAG -3'

Posted On

2015-09-24