Mutagenetix > Incidental Mutation

Incidental Mutation 'R6418:Hkdc1'

518082

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: 0.167) question?

Stock #

R6418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62383137-62422491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62383804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 907 (R907G)

Ref Sequence

ENSEMBL: ENSMUSP00000020277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020277] [ENSMUST00000116238] [ENSMUST00000132926] [ENSMUST00000133429] [ENSMUST00000143236]

AlphaFold

Q91W97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020277
AA Change: R907G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: R907G

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

probably benign
Transcript: ENSMUST00000116238

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	21	225	1.3e-85	PFAM
Pfam:Hexokinase_2	227	357	3.6e-56	PFAM
Pfam:Hexokinase_2	362	489	9.3e-41	PFAM
Pfam:Hexokinase_1	491	696	2e-90	PFAM
Pfam:Hexokinase_2	698	937	3.8e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132926

Predicted Effect

probably benign
Transcript: ENSMUST00000133429

Predicted Effect

probably benign
Transcript: ENSMUST00000143236

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930507D05Rik	C	T	10: 62,449,662	A55V	unknown	Het
Adra1b	T	G	11: 43,776,201	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,460,897	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,278,345	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,574,993	S312P	probably damaging	Het
C4bp	C	T	1: 130,656,013	V73M	probably damaging	Het
Cenpe	T	A	3: 135,251,544	N1854K	probably damaging	Het
Chrm2	A	C	6: 36,523,739	Y177S	probably damaging	Het
Clca4b	C	T	3: 144,928,235	V140I	probably benign	Het
Csad	A	G	15: 102,179,523	S322P	probably damaging	Het
Depdc1b	T	G	13: 108,357,422	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,129,197	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,523,760		probably null	Het
E330021D16Rik	C	A	6: 136,401,101	D244Y	probably damaging	Het
Elf5	A	G	2: 103,439,352	T93A	possibly damaging	Het
Eogt	C	T	6: 97,145,392	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,235,337	D78G	probably damaging	Het
Fam160b1	T	A	19: 57,381,734	M470K	probably benign	Het
Frem3	A	G	8: 80,611,152	T25A	probably benign	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Gm6588	T	C	5: 112,450,153	S189P	probably benign	Het
Golm1	T	C	13: 59,665,561	Y32C	probably damaging	Het
Has1	A	T	17: 17,849,945	V238E	probably damaging	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,611,873	V122I	probably damaging	Het
Lrrc10	T	G	10: 117,045,711	L97V	probably damaging	Het
Map3k20	T	A	2: 72,402,113	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,158,543	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049		probably null	Het
Muc4	A	G	16: 32,751,789	T556A	possibly damaging	Het
Muc6	A	C	7: 141,639,610		probably benign	Het
Ncapg	A	T	5: 45,681,816	L519F	probably damaging	Het
Nfix	A	G	8: 84,727,149	S265P	probably benign	Het
Olfr1226	T	C	2: 89,193,479	K185R	probably damaging	Het
Olfr1299	T	C	2: 111,664,472	V82A	probably benign	Het
Olfr62	T	A	4: 118,665,611	F31L	possibly damaging	Het
Olfr678	T	C	7: 105,070,307	L280P	probably damaging	Het
Olfr955	C	A	9: 39,469,816	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410	T95A	probably benign	Het
Parp4	T	C	14: 56,620,651		probably null	Het
Pcdh7	G	A	5: 57,721,704	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,519,906	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,711,900	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,371,331	R343C	probably damaging	Het
Rab2b	T	A	14: 52,268,707		probably benign	Het
Rims2	A	T	15: 39,509,696	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,758,490	C337F	probably benign	Het
Spty2d1	A	G	7: 46,998,003	S393P	probably damaging	Het
Stkld1	A	T	2: 26,941,081	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,082	K268*	probably null	Het
Tmc6	A	G	11: 117,770,500	L618P	probably damaging	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Ubn1	A	G	16: 5,081,927	H1101R	probably benign	Het
Upf2	G	A	2: 6,027,339	V899I	unknown	Het
Ush2a	A	T	1: 188,628,566	N2161I	probably damaging	Het
Usp25	A	T	16: 77,062,442	D276V	probably damaging	Het
Vmn2r68	T	A	7: 85,233,707	H279L	probably benign	Het
Vps13d	G	A	4: 145,092,280	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,348,296	E423D	probably benign	Het
Wdfy2	T	A	14: 62,925,133	F95I	probably benign	Het
Xrn1	A	G	9: 96,033,710		probably null	Het
Zdhhc13	A	G	7: 48,811,401	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,761,246	S2N	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
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'- GAAAGTCAGCCCATCTTTGGC -3'
(R):5'- ACCACACTTGACTCATGGGAG -3'

Sequencing Primer
(F):5'- CAGCCCATCTTTGGCTAAAATATGC -3'
(R):5'- ACTTGGTCACAGTGGTATAATCC -3'

Posted On

2018-05-24