Incidental Mutation 'IGL01810:Hk1'
ID 155799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hk1
Ensembl Gene ENSMUSG00000037012
Gene Name hexokinase 1
Synonyms mHk1-s, Hk-1, Hk1-s
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # IGL01810
Quality Score
Status
Chromosome 10
Chromosomal Location 62268855-62379908 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62353105 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 10 (A10T)
Ref Sequence ENSEMBL: ENSMUSP00000118576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072357] [ENSMUST00000116238] [ENSMUST00000130091] [ENSMUST00000132926] [ENSMUST00000133429] [ENSMUST00000134447] [ENSMUST00000134877] [ENSMUST00000135317] [ENSMUST00000136548] [ENSMUST00000140383] [ENSMUST00000143236] [ENSMUST00000154489]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072357
AA Change: A10T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: A10T

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 benign
Transcript: ENSMUST00000116238
AA Change: A10T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: A10T

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 noncoding transcript
Transcript: ENSMUST00000123457
Predicted Effect probably benign
Transcript: ENSMUST00000130091
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000132926
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000133429
AA Change: A10T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000134447
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000134877
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000135317
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000136548
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000140383
AA Change: A10T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142968
Predicted Effect probably benign
Transcript: ENSMUST00000143236
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000154489
AA Change: A10T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect unknown
Transcript: ENSMUST00000149534
AA Change: A74T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143122
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,417,359 Y10* probably null Het
Aass C A 6: 23,107,634 Q383H probably damaging Het
Bag1 T C 4: 40,936,657 D333G probably damaging Het
Cap2 A G 13: 46,639,949 probably benign Het
Col27a1 G T 4: 63,225,631 A519S probably benign Het
Cr2 A G 1: 195,159,595 V726A possibly damaging Het
Csmd2 A G 4: 128,480,845 probably benign Het
Dennd4c A G 4: 86,799,551 D595G possibly damaging Het
Ercc2 G T 7: 19,393,449 R340L probably damaging Het
Espl1 A G 15: 102,298,205 T35A probably benign Het
Fndc3a A G 14: 72,566,141 Y525H probably benign Het
Gm4922 T C 10: 18,784,047 Q309R probably benign Het
Gm5263 T C 1: 146,420,554 noncoding transcript Het
Gm6563 A C 19: 23,676,387 R180S probably damaging Het
Gpr182 C A 10: 127,750,864 V73F probably damaging Het
Gramd1b C T 9: 40,315,773 R179H probably damaging Het
Hmgn3 C A 9: 83,110,384 probably benign Het
Il1b C T 2: 129,369,729 E24K probably damaging Het
Itgb6 G T 2: 60,627,985 Q475K probably benign Het
Lrrc74b A G 16: 17,545,558 S368P probably benign Het
Mfsd2b T C 12: 4,866,469 T234A possibly damaging Het
Muc6 A T 7: 141,651,062 Y270N probably damaging Het
Naip6 A G 13: 100,288,095 probably benign Het
Olfr142 A T 2: 90,252,132 Y285* probably null Het
Pear1 G A 3: 87,752,301 T742I probably damaging Het
Peli2 G A 14: 48,256,034 V238I probably benign Het
Pira2 A G 7: 3,844,612 L26P probably damaging Het
Pot1b A G 17: 55,662,521 V549A possibly damaging Het
Prdm16 T C 4: 154,347,927 Y295C probably benign Het
Ptprd A T 4: 76,140,507 probably benign Het
Rap1gap A T 4: 137,716,155 M145L probably benign Het
Setd7 A T 3: 51,532,967 probably benign Het
Ssx2ip T C 3: 146,428,010 I258T probably benign Het
Stard9 T C 2: 120,699,084 Y1941H possibly damaging Het
Stxbp3 T C 3: 108,800,152 E420G probably benign Het
Tpra1 T C 6: 88,909,342 V101A probably damaging Het
Tpx2 G T 2: 152,884,235 Q373H probably damaging Het
Ttn C T 2: 76,727,008 R29914Q probably damaging Het
Ubr3 T C 2: 70,003,465 probably null Het
Usp18 G A 6: 121,253,771 G53D probably damaging Het
Vps13c A T 9: 67,955,780 H3026L probably benign Het
Zan T C 5: 137,463,626 E1097G unknown Het
Other mutations in Hk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Hk1 APN 10 62286348 nonsense probably null
IGL01108:Hk1 APN 10 62296708 missense probably benign 0.00
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
R8865:Hk1 UTSW 10 62315515 missense probably benign 0.00
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
Posted On 2014-02-04