Incidental Mutation 'IGL03002:Hk1'
ID 407387
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: 0.430) question?
Stock # IGL03002
Quality Score
Status
Chromosome 10
Chromosomal Location 62104634-62215687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62107578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 799 (V799E)
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: V827E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: V827E

DomainStartEndE-ValueType
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: V800E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: V800E

DomainStartEndE-ValueType
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: V827E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: V827E

DomainStartEndE-ValueType
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: V799E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: V799E

DomainStartEndE-ValueType
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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Hk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02