Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00941:Hk3'

28861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hk3

Ensembl Gene

ENSMUSG00000025877

Gene Name

hexokinase 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

55005985-55021385 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 55014426 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052949] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000148221] [ENSMUST00000153665]

Predicted Effect

probably null
Transcript: ENSMUST00000052949

SMART Domains

Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	232	3.7e-76	PFAM
Pfam:Hexokinase_2	234	473	1.9e-87	PFAM
Pfam:Hexokinase_1	475	674	2.2e-77	PFAM
Pfam:Hexokinase_2	676	915	2.3e-103	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123097

SMART Domains

Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	232	3.3e-77	PFAM
Pfam:Hexokinase_2	234	457	6e-74	PFAM
Pfam:Hexokinase_1	430	629	3e-78	PFAM
Pfam:Hexokinase_2	631	870	1e-104	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000126234

SMART Domains

Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	31	230	2.4e-63	PFAM
Pfam:Hexokinase_2	236	470	2.9e-62	PFAM
Pfam:Hexokinase_1	480	673	2e-69	PFAM
Pfam:Hexokinase_2	678	912	1.5e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132309

SMART Domains

Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	164	4.1e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135983

Predicted Effect

probably benign
Transcript: ENSMUST00000148221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149644

Predicted Effect

probably null
Transcript: ENSMUST00000153665

SMART Domains

Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	1	177	8.5e-70	PFAM
Pfam:Hexokinase_2	179	418	9.4e-88	PFAM
Pfam:Hexokinase_1	420	619	1.2e-77	PFAM
Pfam:Hexokinase_2	621	860	1.1e-103	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,317,130	I521S	probably damaging	Het
Ace	A	T	11: 105,979,550	K265I	probably benign	Het
Acss3	A	G	10: 107,053,326		probably null	Het
Aldh3a2	A	G	11: 61,262,256	Y215H	probably damaging	Het
Clk2	A	G	3: 89,175,422	M393V	probably damaging	Het
Cyc1	A	G	15: 76,345,165	I242V	probably benign	Het
Evpl	G	A	11: 116,227,901	L657F	probably benign	Het
Fbxw10	G	A	11: 62,873,501	V675M	probably damaging	Het
Fgf21	A	G	7: 45,615,173	V45A	probably damaging	Het
Gm5134	T	C	10: 76,000,421	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,003,751		probably benign	Het
Ifna12	A	T	4: 88,603,314		probably benign	Het
Ipp	A	G	4: 116,532,659	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,396,498	V73I	probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Mical2	T	C	7: 112,321,445		probably benign	Het
Mllt1	A	T	17: 56,895,086	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,524,755	H141L	probably benign	Het
Sept4	G	T	11: 87,589,773	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,379,901	F550L	probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Stk36	T	A	1: 74,623,934	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,564,501	A415T	probably benign	Het
Zfp839	C	A	12: 110,860,948	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,814,747	G95W	probably damaging	Het

Other mutations in Hk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Hk3	APN	13	55007063	splice site	probably benign
IGL02043:Hk3	APN	13	55015095	missense	probably damaging	1.00
IGL02197:Hk3	APN	13	55014468	missense	probably damaging	1.00
IGL02619:Hk3	APN	13	55014294	missense	probably damaging	1.00
R0454:Hk3	UTSW	13	55008705	missense	probably damaging	1.00
R0518:Hk3	UTSW	13	55014426	critical splice donor site	probably null
R0521:Hk3	UTSW	13	55014426	critical splice donor site	probably null
R0709:Hk3	UTSW	13	55014730	missense	probably damaging	1.00
R1386:Hk3	UTSW	13	55007030	intron	probably null
R1567:Hk3	UTSW	13	55006605	missense	probably damaging	1.00
R1647:Hk3	UTSW	13	55014461	missense	probably damaging	1.00
R1648:Hk3	UTSW	13	55014461	missense	probably damaging	1.00
R1663:Hk3	UTSW	13	55006575	missense	probably benign	0.00
R1936:Hk3	UTSW	13	55011391	missense	probably damaging	0.98
R1940:Hk3	UTSW	13	55011391	missense	probably damaging	0.98
R1966:Hk3	UTSW	13	55014455	missense	probably damaging	1.00
R2345:Hk3	UTSW	13	55008993	missense	probably damaging	1.00
R4838:Hk3	UTSW	13	55006418	missense	probably damaging	1.00
R4852:Hk3	UTSW	13	55012596	missense	probably damaging	0.99
R4883:Hk3	UTSW	13	55010922	missense	probably benign	0.04
R4888:Hk3	UTSW	13	55006592	missense	probably damaging	1.00
R5100:Hk3	UTSW	13	55009030	missense	probably damaging	1.00
R5253:Hk3	UTSW	13	55011011	missense	probably damaging	1.00
R5328:Hk3	UTSW	13	55013493	missense	probably benign	0.00
R5441:Hk3	UTSW	13	55015056	missense	probably damaging	1.00
R5493:Hk3	UTSW	13	55011171	missense	probably damaging	1.00
R5557:Hk3	UTSW	13	55012075	nonsense	probably null
R5575:Hk3	UTSW	13	55014770	missense	probably damaging	0.99
R5578:Hk3	UTSW	13	55012181	missense	probably damaging	1.00
R5686:Hk3	UTSW	13	55006813	missense	probably damaging	1.00
R5872:Hk3	UTSW	13	55010804	missense	probably damaging	1.00
R6038:Hk3	UTSW	13	55006560	missense	probably benign	0.13
R6038:Hk3	UTSW	13	55006560	missense	probably benign	0.13
R6314:Hk3	UTSW	13	55013580	missense	probably benign	0.02
R6315:Hk3	UTSW	13	55011157	missense	probably benign	0.03
R6797:Hk3	UTSW	13	55010831	splice site	probably null
R6827:Hk3	UTSW	13	55011352	missense	probably damaging	0.98
R6860:Hk3	UTSW	13	55014465	missense	probably damaging	0.98
R7082:Hk3	UTSW	13	55006897	missense	probably benign	0.40
R7227:Hk3	UTSW	13	55012240	missense	probably benign	0.00
R7564:Hk3	UTSW	13	55011396	missense	probably damaging	1.00
X0003:Hk3	UTSW	13	55007136	missense	probably benign	0.01

Posted On

2013-04-17