Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Hk1'

272392

Institutional Source

Beutler Lab

Gene Symbol

Hk1

Ensembl Gene

ENSMUSG00000037012

Gene Name

hexokinase 1

Synonyms

mHk1-s, Hk-1, Hk1-s

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R3788 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

62268855-62379908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62275688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 737 (K737E)

Ref Sequence

ENSEMBL: ENSMUSP00000118601 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072357
AA Change: K765E

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: K765E

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 benign
Transcript: ENSMUST00000099691
AA Change: K738E

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: K738E

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 benign
Transcript: ENSMUST00000116238
AA Change: K765E

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: K765E

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

possibly damaging
Transcript: ENSMUST00000130422
AA Change: K737E

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: K737E

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

0.0922

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,288,297		probably null	Het
Abca4	T	A	3: 122,052,912	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Akap13	G	A	7: 75,702,153		probably null	Het
Aph1b	T	C	9: 66,794,066		probably benign	Het
Aspm	C	T	1: 139,463,203	T742I	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Cemip	A	T	7: 83,943,898	L1199H	probably damaging	Het
Chd2	G	A	7: 73,447,130		probably benign	Het
Clnk	A	G	5: 38,714,998	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,284,140	D522G	probably damaging	Het
Cyth3	A	G	5: 143,636,543		probably benign	Het
Dcbld1	T	A	10: 52,319,658	Y392N	probably damaging	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Flnc	T	C	6: 29,454,057	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,520,115	R385*	probably null	Het
Gpatch3	C	A	4: 133,575,168	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,624,466	P265S	probably damaging	Het
Harbi1	T	A	2: 91,720,607	D308E	probably benign	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hnrnpr	G	A	4: 136,336,313	V345M	probably damaging	Het
Kalrn	T	C	16: 34,220,240	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,351,805	C207S	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt75	C	T	15: 101,573,521	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
March10	T	A	11: 105,397,079	L132F	probably damaging	Het
Mfrp	G	A	9: 44,105,457	W65*	probably null	Het
Mgat5	A	G	1: 127,366,443	D174G	probably benign	Het
Miga2	T	A	2: 30,371,225	Y177*	probably null	Het
Mroh3	T	C	1: 136,185,475	D747G	probably damaging	Het
Muc5b	A	G	7: 141,863,834	T3506A	possibly damaging	Het
Myo7b	G	T	18: 31,974,112	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,272,554		probably null	Het
Ndufs2	T	C	1: 171,235,320	D410G	possibly damaging	Het
Olfr506	T	A	7: 108,613,073	Y255*	probably null	Het
Olfr559	A	G	7: 102,723,487		probably null	Het
Olfr873	A	G	9: 20,300,370	I58V	probably benign	Het
Olfr955	A	G	9: 39,470,069	I219T	probably benign	Het
Osbp	A	T	19: 11,978,921	Y409F	probably benign	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,313,747	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sbf1	G	A	15: 89,299,528	R1261*	probably null	Het
Scn4a	T	C	11: 106,344,274	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,879,625		probably null	Het
Sgcd	T	A	11: 47,355,205	K57*	probably null	Het
Slc12a5	T	C	2: 164,993,775	L861P	probably damaging	Het
Slc6a16	A	G	7: 45,259,962	D184G	probably benign	Het
Snx7	A	G	3: 117,838,990		probably benign	Het
Sptbn2	A	G	19: 4,745,922	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,376,081	I426F	probably benign	Het
Tdp1	A	G	12: 99,891,752		probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttc26	T	A	6: 38,403,524		probably null	Het
Ttn	T	C	2: 76,945,274	E1854G	unknown	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,080,625	T630S	probably benign	Het
Xrcc1	G	C	7: 24,566,908	A220P	probably benign	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
BB009:Hk1	UTSW	10	62315520	missense	probably damaging	1.00
BB019:Hk1	UTSW	10	62315520	missense	probably damaging	1.00
R0029:Hk1	UTSW	10	62315394	missense	probably damaging	0.99
R0436:Hk1	UTSW	10	62299275	splice site	probably benign
R0853:Hk1	UTSW	10	62271716	nonsense	probably null
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	splice site	probably null
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
R7932:Hk1	UTSW	10	62315520	missense	probably damaging	1.00
R8031:Hk1	UTSW	10	62296699	missense	probably benign	0.15
R8128:Hk1	UTSW	10	62281843	missense	probably benign
R8204:Hk1	UTSW	10	62296744	missense	probably damaging	1.00
R8294:Hk1	UTSW	10	62295845	missense	probably benign	0.00
R8685:Hk1	UTSW	10	62296674	splice site	probably benign
R8865:Hk1	UTSW	10	62315515	missense	probably benign	0.00
R9015:Hk1	UTSW	10	62292339	missense	possibly damaging	0.95
R9022:Hk1	UTSW	10	62269989	missense	probably damaging	1.00
R9063:Hk1	UTSW	10	62286650	missense	probably damaging	1.00
R9404:Hk1	UTSW	10	62296080	missense	possibly damaging	0.76
X0018:Hk1	UTSW	10	62275706	missense	probably benign	0.02
X0063:Hk1	UTSW	10	62275704	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTTGAGGCATGGCTAAACTC -3'
(R):5'- TGTCCCCATGTTTTAGGGAC -3'

Sequencing Primer
(F):5'- TGAGGCATGGCTAAACTCCTTCAG -3'
(R):5'- TTTAGGGACTGGCAGCAATGC -3'

Posted On

2015-03-25