Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Hk1'

462026

Institutional Source

Beutler Lab

Gene Symbol

Hk1

Ensembl Gene

ENSMUSG00000037012

Gene Name

hexokinase 1

Synonyms

mHk1-s, Hk1-s, Hk-1

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.464) question?

Stock #

R5933 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

62104634-62215687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62105773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 890 (L890P)

Ref Sequence

ENSEMBL: ENSMUSP00000118601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020278] [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130422]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020278

SMART Domains

Protein: ENSMUSP00000020278
Gene: ENSMUSG00000020081

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	44	322	1.9e-11	PFAM
Pfam:7tm_1	50	307	4e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072357
AA Change: L918P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: L918P

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 damaging
Transcript: ENSMUST00000099691
AA Change: L891P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: L891P

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 damaging
Transcript: ENSMUST00000116238
AA Change: L918P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: L918P

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 damaging
Transcript: ENSMUST00000130422
AA Change: L890P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: L890P

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

0.8340

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Cyth1	C	T	11: 118,076,585 (GRCm39)		probably null	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Evl	T	C	12: 108,649,516 (GRCm39)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Galnt14	A	T	17: 73,833,300 (GRCm39)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,448,951 (GRCm39)	V272I	probably benign	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Whrn	A	T	4: 63,412,945 (GRCm39)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
R2064:Hk1	UTSW	10	62,122,315 (GRCm39)	missense	probably benign	0.03
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
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'- ATGCTCCGTTACTGCAGTC -3'
(R):5'- TCAGTCTTAGCCATGTTATGACAG -3'

Sequencing Primer
(F):5'- GAGCTTGCTGGGTGGAAC -3'
(R):5'- GACACCTTGAATGCATGGTC -3'

Posted On

2017-02-28