Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Hk1'

228987

Institutional Source

Beutler Lab

Gene Symbol

Hk1

Ensembl Gene

ENSMUSG00000037012

Gene Name

hexokinase 1

Synonyms

mHk1-s, Hk1-s, Hk-1

MMRRC Submission

040069-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62104634-62215687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62122315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 488 (Y488C)

Ref Sequence

ENSEMBL: ENSMUSP00000111946 (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: Y488C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: Y488C

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: Y461C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: Y461C

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: Y488C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: Y488C

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: ENSMUST00000130422
AA Change: Y460C

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

SMART Domains

Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: Y460C

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

noncoding transcript
Transcript: ENSMUST00000161160

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Actr1b	A	G	1: 36,741,168 (GRCm39)	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,041,301 (GRCm39)	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 44,796,585 (GRCm39)		probably null	Het
Alg12	A	G	15: 88,696,318 (GRCm39)	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Arhgap23	T	A	11: 97,383,888 (GRCm39)	C1144S	probably benign	Het
Arhgef40	G	A	14: 52,233,640 (GRCm39)	V829M	probably damaging	Het
Atg7	C	A	6: 114,680,324 (GRCm39)	N344K	probably damaging	Het
Aunip	T	A	4: 134,250,618 (GRCm39)	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,576,568 (GRCm39)	H88Q	probably benign	Het
Brpf3	G	A	17: 29,040,338 (GRCm39)	G920S	probably benign	Het
Cdc123	C	T	2: 5,800,354 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,817,062 (GRCm39)	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,202,175 (GRCm39)	V24A	probably damaging	Het
Cirbp	T	C	10: 80,006,166 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Col12a1	A	G	9: 79,569,736 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,215,649 (GRCm39)	S402T	probably damaging	Het
Cpox	T	A	16: 58,494,772 (GRCm39)	C270S	probably benign	Het
Cspg4	A	G	9: 56,803,940 (GRCm39)	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,381,917 (GRCm39)		probably benign	Het
Dctn4	T	C	18: 60,671,349 (GRCm39)	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,497,900 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,036,261 (GRCm39)	S185N	probably benign	Het
Dqx1	T	G	6: 83,035,524 (GRCm39)		probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ep400	A	C	5: 110,883,270 (GRCm39)		probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Exoc2	T	C	13: 31,119,544 (GRCm39)	D119G	probably benign	Het
Fbn2	C	T	18: 58,181,921 (GRCm39)	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgd6	G	A	10: 93,880,903 (GRCm39)	A586T	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm12888	A	T	4: 121,182,069 (GRCm39)	W8R	unknown	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6214	A	G	3: 140,544,978 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gmeb2	A	G	2: 180,895,763 (GRCm39)	L469P	probably benign	Het
Gosr1	T	C	11: 76,628,224 (GRCm39)	I177V	probably benign	Het
Gria1	T	C	11: 57,208,534 (GRCm39)	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,340 (GRCm39)	Q533*	probably null	Het
Hadhb	T	A	5: 30,378,796 (GRCm39)		probably null	Het
Hat1	A	T	2: 71,240,504 (GRCm39)	Y66F	possibly damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il19	T	C	1: 130,866,854 (GRCm39)	H42R	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Impg2	G	A	16: 56,063,993 (GRCm39)		probably null	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itga9	T	C	9: 118,636,361 (GRCm39)	F683S	probably damaging	Het
Itih2	A	G	2: 10,135,385 (GRCm39)	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Kcnab1	A	G	3: 65,272,060 (GRCm39)	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,252,437 (GRCm39)	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl28	T	C	12: 64,990,246 (GRCm39)	N565S	probably benign	Het
Lcp1	A	G	14: 75,435,515 (GRCm39)		probably null	Het
Mcm4	T	C	16: 15,452,333 (GRCm39)	T267A	possibly damaging	Het
Mlxipl	A	T	5: 135,161,631 (GRCm39)	T517S	possibly damaging	Het
Mpp3	T	A	11: 101,891,516 (GRCm39)	I541L	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myh15	G	A	16: 48,975,984 (GRCm39)	A1351T	possibly damaging	Het
Nacc1	A	T	8: 85,399,747 (GRCm39)	M490K	probably benign	Het
Nbeal1	C	A	1: 60,309,515 (GRCm39)	Q496K	possibly damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or14j1	T	A	17: 38,145,893 (GRCm39)	M1K	probably null	Het
Pard3	T	C	8: 128,337,092 (GRCm39)	L1236P	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phf21a	C	A	2: 92,157,422 (GRCm39)	N183K	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,380,720 (GRCm39)		probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Psg16	T	G	7: 16,827,673 (GRCm39)	S210A	possibly damaging	Het
Psg25	T	A	7: 18,255,178 (GRCm39)	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,949,508 (GRCm39)	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,860,957 (GRCm39)	E57D	possibly damaging	Het
Rpl35	A	G	2: 38,894,753 (GRCm39)	L44P	possibly damaging	Het
Rtn4r	T	C	16: 17,969,121 (GRCm39)	L183P	probably damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773 (GRCm38)	R67H	probably damaging	Het
Smg1	C	T	7: 117,756,090 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,762,374 (GRCm39)	T39A	probably damaging	Het
Sspo	A	T	6: 48,450,596 (GRCm39)	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,680,274 (GRCm39)	R68*	probably null	Het
Tgm1	A	G	14: 55,946,928 (GRCm39)	I360T	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,838,202 (GRCm39)	I212N	probably benign	Het
Ttc17	C	A	2: 94,196,892 (GRCm39)	W485L	probably damaging	Het
Ttn	C	A	2: 76,768,675 (GRCm39)	V2920F	probably damaging	Het
Tyr	T	C	7: 87,142,051 (GRCm39)	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn1r212	A	G	13: 23,068,285 (GRCm39)	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Xirp1	T	C	9: 119,845,962 (GRCm39)	I974V	probably benign	Het
Zap70	A	G	1: 36,818,215 (GRCm39)	T301A	probably benign	Het
Zfhx4	A	G	3: 5,463,987 (GRCm39)	K1382E	probably damaging	Het
Zfp280b	T	A	10: 75,875,017 (GRCm39)	C299S	probably damaging	Het
Zfp352	C	T	4: 90,113,357 (GRCm39)	S499L	probably benign	Het
Zfp423	G	A	8: 88,507,986 (GRCm39)	A661V	probably benign	Het
Zfp57	T	A	17: 37,320,568 (GRCm39)	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,674,446 (GRCm39)	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Hk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Hk1	APN	10	62,122,127 (GRCm39)	nonsense	probably null
IGL01108:Hk1	APN	10	62,132,487 (GRCm39)	missense	probably benign	0.00
IGL01810:Hk1	APN	10	62,188,884 (GRCm39)	missense	probably benign	0.13
IGL01950:Hk1	APN	10	62,151,173 (GRCm39)	missense	probably damaging	0.99
IGL02165:Hk1	APN	10	62,117,667 (GRCm39)	missense	probably damaging	1.00
IGL02227:Hk1	APN	10	62,116,919 (GRCm39)	splice site	probably benign
IGL02257:Hk1	APN	10	62,107,422 (GRCm39)	missense	probably benign	0.07
IGL02341:Hk1	APN	10	62,120,159 (GRCm39)	missense	possibly damaging	0.54
IGL02553:Hk1	APN	10	62,131,552 (GRCm39)	missense	possibly damaging	0.71
IGL02623:Hk1	APN	10	62,128,138 (GRCm39)	missense	probably benign	0.21
IGL02700:Hk1	APN	10	62,120,590 (GRCm39)	missense	probably damaging	1.00
IGL02863:Hk1	APN	10	62,131,534 (GRCm39)	missense	possibly damaging	0.83
IGL03002:Hk1	APN	10	62,107,578 (GRCm39)	missense	probably damaging	1.00
BB009:Hk1	UTSW	10	62,151,299 (GRCm39)	missense	probably damaging	1.00
BB019:Hk1	UTSW	10	62,151,299 (GRCm39)	missense	probably damaging	1.00
R0029:Hk1	UTSW	10	62,151,173 (GRCm39)	missense	probably damaging	0.99
R0436:Hk1	UTSW	10	62,135,054 (GRCm39)	splice site	probably benign
R0853:Hk1	UTSW	10	62,107,495 (GRCm39)	nonsense	probably null
R1422:Hk1	UTSW	10	62,131,873 (GRCm39)	missense	probably null	0.98
R1531:Hk1	UTSW	10	62,120,563 (GRCm39)	missense	probably damaging	1.00
R1760:Hk1	UTSW	10	62,117,678 (GRCm39)	missense	probably damaging	1.00
R3236:Hk1	UTSW	10	62,131,798 (GRCm39)	splice site	probably null
R3788:Hk1	UTSW	10	62,111,467 (GRCm39)	missense	possibly damaging	0.85
R3977:Hk1	UTSW	10	62,126,098 (GRCm39)	missense	probably benign	0.10
R4373:Hk1	UTSW	10	62,151,319 (GRCm39)	missense	probably damaging	0.98
R4374:Hk1	UTSW	10	62,151,319 (GRCm39)	missense	probably damaging	0.98
R4377:Hk1	UTSW	10	62,151,319 (GRCm39)	missense	probably damaging	0.98
R4435:Hk1	UTSW	10	62,111,623 (GRCm39)	missense	probably damaging	1.00
R4609:Hk1	UTSW	10	62,194,194 (GRCm39)	utr 5 prime	probably benign
R4648:Hk1	UTSW	10	62,140,558 (GRCm39)	missense	probably benign	0.00
R4864:Hk1	UTSW	10	62,178,318 (GRCm39)	missense	probably benign	0.00
R4934:Hk1	UTSW	10	62,194,165 (GRCm39)	utr 5 prime	probably benign
R5110:Hk1	UTSW	10	62,122,430 (GRCm39)	missense	probably damaging	1.00
R5352:Hk1	UTSW	10	62,140,549 (GRCm39)	missense	probably damaging	0.97
R5569:Hk1	UTSW	10	62,122,220 (GRCm39)	missense	probably benign	0.35
R5609:Hk1	UTSW	10	62,178,330 (GRCm39)	missense	probably benign	0.30
R5647:Hk1	UTSW	10	62,111,523 (GRCm39)	missense	probably damaging	0.99
R5750:Hk1	UTSW	10	62,110,245 (GRCm39)	missense	possibly damaging	0.86
R5770:Hk1	UTSW	10	62,122,228 (GRCm39)	missense	probably benign
R5832:Hk1	UTSW	10	62,128,144 (GRCm39)	missense	probably benign	0.17
R5905:Hk1	UTSW	10	62,188,837 (GRCm39)	missense	probably null	0.82
R5933:Hk1	UTSW	10	62,105,773 (GRCm39)	missense	probably damaging	1.00
R6028:Hk1	UTSW	10	62,188,837 (GRCm39)	missense	probably null	0.82
R6196:Hk1	UTSW	10	62,135,038 (GRCm39)	missense	probably damaging	1.00
R6314:Hk1	UTSW	10	62,128,223 (GRCm39)	missense	possibly damaging	0.93
R6372:Hk1	UTSW	10	62,127,757 (GRCm39)	missense	probably benign
R6801:Hk1	UTSW	10	62,116,910 (GRCm39)	missense	probably damaging	0.97
R6838:Hk1	UTSW	10	62,107,437 (GRCm39)	missense	probably damaging	0.98
R7045:Hk1	UTSW	10	62,122,349 (GRCm39)	missense	probably damaging	1.00
R7420:Hk1	UTSW	10	62,105,761 (GRCm39)	missense	probably damaging	1.00
R7491:Hk1	UTSW	10	62,131,524 (GRCm39)	missense	probably damaging	1.00
R7527:Hk1	UTSW	10	62,140,561 (GRCm39)	missense	probably damaging	0.99
R7561:Hk1	UTSW	10	62,116,807 (GRCm39)	splice site	probably null
R7932:Hk1	UTSW	10	62,151,299 (GRCm39)	missense	probably damaging	1.00
R8031:Hk1	UTSW	10	62,132,478 (GRCm39)	missense	probably benign	0.15
R8128:Hk1	UTSW	10	62,117,622 (GRCm39)	missense	probably benign
R8204:Hk1	UTSW	10	62,132,523 (GRCm39)	missense	probably damaging	1.00
R8294:Hk1	UTSW	10	62,131,624 (GRCm39)	missense	probably benign	0.00
R8685:Hk1	UTSW	10	62,132,453 (GRCm39)	splice site	probably benign
R8865:Hk1	UTSW	10	62,151,294 (GRCm39)	missense	probably benign	0.00
R9015:Hk1	UTSW	10	62,128,118 (GRCm39)	missense	possibly damaging	0.95
R9022:Hk1	UTSW	10	62,105,768 (GRCm39)	missense	probably damaging	1.00
R9063:Hk1	UTSW	10	62,122,429 (GRCm39)	missense	probably damaging	1.00
R9404:Hk1	UTSW	10	62,131,859 (GRCm39)	missense	possibly damaging	0.76
X0018:Hk1	UTSW	10	62,111,485 (GRCm39)	missense	probably benign	0.02
X0063:Hk1	UTSW	10	62,111,483 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTGGGATGCTCCGAACATAAG -3'
(R):5'- GCAGAATGGAATCAAAGCGTTC -3'

Sequencing Primer
(F):5'- CATAAGAAGGCAGCATTTTGACC -3'
(R):5'- TTCGAACCTGGCCCAAGTATGTAG -3'

Posted On

2014-09-17