Mutagenetix > Incidental Mutations

Incidental Mutation 'R0853:Hk1'

82622

Institutional Source

Beutler Lab

Gene Symbol

Hk1

Ensembl Gene

ENSMUSG00000037012

Gene Name

hexokinase 1

Synonyms

mHk1-s, Hk-1, Hk1-s

MMRRC Submission

039032-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R0853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62268855-62379908 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 62271716 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 827 (K827*)

Ref Sequence

ENSEMBL: ENSMUSP00000118601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130422]

Predicted Effect

probably null
Transcript: ENSMUST00000072357
AA Change: K855*

SMART Domains

Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: K855*

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	25	224	1.2e-70	PFAM
Pfam:Hexokinase_2	229	486	8e-79	PFAM
Pfam:Hexokinase_1	496	695	7e-76	PFAM
Pfam:Hexokinase_2	700	934	4.2e-85	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099691
AA Change: K828*

SMART Domains

Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: K828*

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	16	221	1.9e-86	PFAM
Pfam:Hexokinase_2	223	462	1e-102	PFAM
Pfam:Hexokinase_1	464	669	1.1e-90	PFAM
Pfam:Hexokinase_2	671	910	2.2e-109	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000116238
AA Change: K855*

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: K855*

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 null
Transcript: ENSMUST00000130422
AA Change: K827*

SMART Domains

Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: K827*

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	16	220	1.4e-85	PFAM
Pfam:Hexokinase_2	222	461	1e-102	PFAM
Pfam:Hexokinase_1	463	668	1.1e-90	PFAM
Pfam:Hexokinase_2	670	909	2.2e-109	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.9%

Validation Efficiency

93% (42/45)

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 a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	G	T	9: 14,592,778	P378Q	probably damaging	Het
Angpt4	A	G	2: 151,938,927	E365G	probably damaging	Het
Asb6	G	A	2: 30,827,030	P61L	possibly damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Atxn7	C	A	14: 14,089,465		probably benign	Het
Cacul1	A	T	19: 60,534,226	I290N	probably damaging	Het
Ccser2	A	C	14: 36,940,410	S272R	probably benign	Het
Cfh	T	A	1: 140,105,490	H772L	probably damaging	Het
Cldn6	T	G	17: 23,681,464	I134S	probably damaging	Het
Col3a1	T	A	1: 45,343,324		probably benign	Het
Fam118a	T	C	15: 85,048,525	F156S	possibly damaging	Het
Fgd4	T	A	16: 16,474,387		probably benign	Het
Gckr	G	C	5: 31,305,048	A242P	probably damaging	Het
Gcnt4	A	G	13: 96,946,835	D213G	probably damaging	Het
Gm21994	A	T	2: 150,255,478	S38R	probably benign	Het
Hace1	T	A	10: 45,648,683	V237E	probably damaging	Het
Herc3	T	C	6: 58,876,564	L570P	probably damaging	Het
Hyal6	T	C	6: 24,734,073	F2L	probably benign	Het
Jak2	C	A	19: 29,284,926	Y382*	probably null	Het
Kat8	C	T	7: 127,925,224	H425Y	probably benign	Het
Kcnj3	T	C	2: 55,437,223	F8S	possibly damaging	Het
Klk1	T	A	7: 44,221,498		probably benign	Het
Klra8	T	C	6: 130,119,014	Y205C	probably damaging	Het
Kpnb1	T	C	11: 97,187,411	E26G	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nphp3	T	C	9: 104,031,933	S781P	probably benign	Het
Nqo2	A	T	13: 33,979,577	H73L	probably benign	Het
P3h3	G	T	6: 124,854,933	D296E	probably benign	Het
Pah	G	A	10: 87,576,218		probably null	Het
Pcdhb4	T	G	18: 37,309,885	Y749*	probably null	Het
Pdgfrb	C	A	18: 61,080,327	N914K	probably damaging	Het
Ralyl	A	G	3: 13,946,506	Y4C	probably damaging	Het
Rapgef6	T	A	11: 54,668,677	I1052N	probably damaging	Het
Sdk2	G	A	11: 113,821,415	T1642I	probably benign	Het
Siglec1	G	A	2: 131,085,022	T207M	probably damaging	Het
Taf1b	T	C	12: 24,514,828	L148P	probably benign	Het
Tbx20	A	G	9: 24,725,612	M393T	probably benign	Het
Tdp1	G	A	12: 99,935,067	R536H	probably damaging	Het
Tubgcp5	T	A	7: 55,814,851		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn1r58	G	T	7: 5,410,325	T302K	probably damaging	Het

Other mutations in Hk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Hk1	APN	10	62286348	nonsense	probably null
IGL01108:Hk1	APN	10	62296708	missense	probably benign	0.00
IGL01810:Hk1	APN	10	62353105	missense	probably benign	0.13
IGL01950:Hk1	APN	10	62315394	missense	probably damaging	0.99
IGL02165:Hk1	APN	10	62281888	missense	probably damaging	1.00
IGL02227:Hk1	APN	10	62281140	splice site	probably benign
IGL02257:Hk1	APN	10	62271643	missense	probably benign	0.07
IGL02341:Hk1	APN	10	62284380	missense	possibly damaging	0.54
IGL02553:Hk1	APN	10	62295773	missense	possibly damaging	0.71
IGL02623:Hk1	APN	10	62292359	missense	probably benign	0.21
IGL02700:Hk1	APN	10	62284811	missense	probably damaging	1.00
IGL02863:Hk1	APN	10	62295755	missense	possibly damaging	0.83
IGL03002:Hk1	APN	10	62271799	missense	probably damaging	1.00
R0029:Hk1	UTSW	10	62315394	missense	probably damaging	0.99
R0436:Hk1	UTSW	10	62299275	splice site	probably benign
R1422:Hk1	UTSW	10	62296094	missense	probably null	0.98
R1531:Hk1	UTSW	10	62284784	missense	probably damaging	1.00
R1760:Hk1	UTSW	10	62281899	missense	probably damaging	1.00
R2064:Hk1	UTSW	10	62286536	missense	probably benign	0.03
R3236:Hk1	UTSW	10	62296019	unclassified	probably null
R3788:Hk1	UTSW	10	62275688	missense	possibly damaging	0.85
R3977:Hk1	UTSW	10	62290319	missense	probably benign	0.10
R4373:Hk1	UTSW	10	62315540	missense	probably damaging	0.98
R4374:Hk1	UTSW	10	62315540	missense	probably damaging	0.98
R4377:Hk1	UTSW	10	62315540	missense	probably damaging	0.98
R4435:Hk1	UTSW	10	62275844	missense	probably damaging	1.00
R4609:Hk1	UTSW	10	62358415	utr 5 prime	probably benign
R4648:Hk1	UTSW	10	62304779	missense	probably benign	0.00
R4864:Hk1	UTSW	10	62342539	missense	probably benign	0.00
R4934:Hk1	UTSW	10	62358386	utr 5 prime	probably benign
R5110:Hk1	UTSW	10	62286651	missense	probably damaging	1.00
R5352:Hk1	UTSW	10	62304770	missense	probably damaging	0.97
R5569:Hk1	UTSW	10	62286441	missense	probably benign	0.35
R5609:Hk1	UTSW	10	62342551	missense	probably benign	0.30
R5647:Hk1	UTSW	10	62275744	missense	probably damaging	0.99
R5750:Hk1	UTSW	10	62274466	missense	possibly damaging	0.86
R5770:Hk1	UTSW	10	62286449	missense	probably benign
R5832:Hk1	UTSW	10	62292365	missense	probably benign	0.17
R5905:Hk1	UTSW	10	62353058	missense	probably null	0.82
R5933:Hk1	UTSW	10	62269994	missense	probably damaging	1.00
R6028:Hk1	UTSW	10	62353058	missense	probably null	0.82
R6196:Hk1	UTSW	10	62299259	missense	probably damaging	1.00
R6314:Hk1	UTSW	10	62292444	missense	possibly damaging	0.93
R6372:Hk1	UTSW	10	62291978	missense	probably benign
R6801:Hk1	UTSW	10	62281131	missense	probably damaging	0.97
R6838:Hk1	UTSW	10	62271658	missense	probably damaging	0.98
R7045:Hk1	UTSW	10	62286570	missense	probably damaging	1.00
R7420:Hk1	UTSW	10	62269982	missense	probably damaging	1.00
R7491:Hk1	UTSW	10	62295745	missense	probably damaging	1.00
R7527:Hk1	UTSW	10	62304782	missense	probably damaging	0.99
R7561:Hk1	UTSW	10	62281028	splice site	probably null
X0018:Hk1	UTSW	10	62275706	missense	probably benign	0.02
X0063:Hk1	UTSW	10	62275704	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATGCCCCAGGCTACTATGCCTC -3'
(R):5'- TGGGATGCCATTCATAGACAAGCAG -3'

Sequencing Primer
(F):5'- TACTATGCCTCCGTGAGGAAC -3'
(R):5'- CAAGCAGAATGCTTTGGACC -3'

Posted On

2013-11-08