Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Hk1'

675872

Institutional Source

Beutler Lab

Gene Symbol

Hk1

Ensembl Gene

ENSMUSG00000037012

Gene Name

hexokinase 1

Synonyms

mHk1-s, Hk-1, Hk1-s

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62268855-62379908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62315515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 33 (D33N)

Ref Sequence

ENSEMBL: ENSMUSP00000097282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130091] [ENSMUST00000130422] [ENSMUST00000132926] [ENSMUST00000133429] [ENSMUST00000134447] [ENSMUST00000134877] [ENSMUST00000135317] [ENSMUST00000136548] [ENSMUST00000139228] [ENSMUST00000140383] [ENSMUST00000143179] [ENSMUST00000143236] [ENSMUST00000152761] [ENSMUST00000154489]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072357
AA Change: D37N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: D37N

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: D33N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: D33N

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: D37N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: D37N

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: ENSMUST00000130091
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130422
AA Change: D32N

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: D32N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132926
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133429
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134447
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134877
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135317
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136548
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139228
AA Change: D19N

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118166
Gene: ENSMUSG00000037012
AA Change: D19N

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	3	184	1.4e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140383
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143179

SMART Domains

Protein: ENSMUSP00000120151
Gene: ENSMUSG00000037012

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	5	80	5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143236
AA Change: D37N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149534

Predicted Effect

probably benign
Transcript: ENSMUST00000152761
AA Change: D17N

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117752
Gene: ENSMUSG00000037012
AA Change: D17N

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	2	205	5.6e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154489
AA Change: D37N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly 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
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
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
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
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'- TTGGAAAGACAGGTTTCACAGAGC -3'
(R):5'- TGAGGGAGTCAACAGCCTTC -3'

Sequencing Primer
(F):5'- GGTTTCACAGAGCATTCAGC -3'
(R):5'- GAGTCAACAGCCTTCTCTGG -3'

Posted On

2021-07-15