Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02700:Hk1'

304101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hk1

Ensembl Gene

ENSMUSG00000037012

Gene Name

hexokinase 1

Synonyms

mHk1-s, Hk1-s, Hk-1

Accession Numbers

Essential gene?

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

Stock #

IGL02700

Quality Score

Status

Chromosome

Chromosomal Location

62104634-62215687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62120590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 536 (N536D)

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 damaging
Transcript: ENSMUST00000072357
AA Change: N564D

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

SMART Domains

Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: N564D

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: N537D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: N537D

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: N564D

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

SMART Domains

Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: N564D

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: N536D

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

SMART Domains

Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: N536D

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

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,262,161 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,356,942 (GRCm39)	Y1291C	probably damaging	Het
Agtpbp1	C	T	13: 59,676,233 (GRCm39)	C179Y	probably damaging	Het
Capn15	T	C	17: 26,181,982 (GRCm39)	D609G	probably damaging	Het
Cnnm3	T	A	1: 36,552,189 (GRCm39)	F400I	probably damaging	Het
Dst	A	C	1: 34,301,201 (GRCm39)	E1189A	probably damaging	Het
Gcnt1	G	A	19: 17,306,780 (GRCm39)	T315I	probably damaging	Het
H2-M1	T	C	17: 36,982,161 (GRCm39)	I147V	possibly damaging	Het
Klhl5	C	T	5: 65,288,773 (GRCm39)	Q12*	probably null	Het
Lgals12	C	T	19: 7,575,455 (GRCm39)	A294T	probably benign	Het
Mideas	T	C	12: 84,199,636 (GRCm39)	N1028S	probably benign	Het
Mki67	G	T	7: 135,309,931 (GRCm39)	S173R	probably benign	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Obox5	A	G	7: 15,492,888 (GRCm39)	D281G	possibly damaging	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Pacs2	T	A	12: 113,025,330 (GRCm39)	I494N	probably damaging	Het
Pax5	G	T	4: 44,682,722 (GRCm39)	T141K	probably damaging	Het
Phf21b	T	C	15: 84,687,662 (GRCm39)	N230S	probably benign	Het
Rab3gap1	G	T	1: 127,866,342 (GRCm39)	A841S	probably benign	Het
Siglecf	T	C	7: 43,001,802 (GRCm39)	L204P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Snca	G	A	6: 60,804,521 (GRCm39)	T22I	possibly damaging	Het
Syvn1	A	G	19: 6,097,973 (GRCm39)	T4A	probably benign	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Usp42	A	T	5: 143,702,883 (GRCm39)	S579R	probably benign	Het
Vezf1	T	C	11: 87,964,129 (GRCm39)	S94P	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
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
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

Posted On

2015-04-16