Incidental Mutation 'R5905:Hk1'
ID 456534
Institutional Source Beutler Lab
Gene Symbol Hk1
Ensembl Gene ENSMUSG00000037012
Gene Name hexokinase 1
Synonyms mHk1-s, Hk1-s, Hk-1
MMRRC Submission 044102-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.464) question?
Stock # R5905 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62104634-62215687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62188837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 25 (K25N)
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 null
Transcript: ENSMUST00000072357
AA Change: K25N

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: K25N

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 null
Transcript: ENSMUST00000116238
AA Change: K25N

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: K25N

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 null
Transcript: ENSMUST00000130091
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000132926
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000133429
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000134447
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000149534
AA Change: K89N
Predicted Effect probably null
Transcript: ENSMUST00000134877
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000135317
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000136548
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000140383
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000143236
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000154489
AA Change: K25N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142968
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,533,718 (GRCm39) probably null Het
Acat1 A T 9: 53,503,366 (GRCm39) Y158N probably damaging Het
Adamtsl1 C A 4: 86,260,561 (GRCm39) A924E probably damaging Het
Alad G T 4: 62,428,359 (GRCm39) T305K probably benign Het
Als2cl G T 9: 110,727,152 (GRCm39) R906L probably damaging Het
Ap3d1 T C 10: 80,558,761 (GRCm39) N281S possibly damaging Het
Arf4 A G 14: 26,375,079 (GRCm39) T113A probably benign Het
Asah2 T C 19: 31,993,914 (GRCm39) D438G probably damaging Het
Cachd1 C A 4: 100,840,753 (GRCm39) N905K probably damaging Het
Catsperb T A 12: 101,568,959 (GRCm39) M877K possibly damaging Het
Cc2d2a A T 5: 43,869,768 (GRCm39) M890L probably benign Het
Cd180 A T 13: 102,842,541 (GRCm39) H529L possibly damaging Het
Cdh23 G T 10: 60,370,314 (GRCm39) D160E probably damaging Het
Chd7 C A 4: 8,840,553 (GRCm39) N1440K possibly damaging Het
Cntln T A 4: 84,889,410 (GRCm39) S298T probably benign Het
Cplx3 A G 9: 57,515,546 (GRCm39) I443T probably damaging Het
Dmap1 G T 4: 117,533,963 (GRCm39) T132K probably benign Het
Dnah11 C T 12: 117,918,659 (GRCm39) G3424E probably damaging Het
Dnah5 T A 15: 28,387,979 (GRCm39) M3146K probably damaging Het
Egfr A T 11: 16,861,494 (GRCm39) E1091V probably damaging Het
Eps8l2 T C 7: 140,937,746 (GRCm39) F422S possibly damaging Het
F2r A G 13: 95,741,121 (GRCm39) V138A possibly damaging Het
Faf1 T A 4: 109,748,126 (GRCm39) M477K probably benign Het
Fam149b C T 14: 20,409,978 (GRCm39) T235M probably benign Het
Fan1 C A 7: 64,003,399 (GRCm39) A808S probably benign Het
Fbxl20 A G 11: 98,006,271 (GRCm39) I38T probably damaging Het
Fnbp4 C A 2: 90,581,478 (GRCm39) T177K probably benign Het
Gm9747 T C 1: 82,212,019 (GRCm39) probably benign Het
Grip1 A G 10: 119,821,397 (GRCm39) D354G probably benign Het
Grk4 A C 5: 34,869,074 (GRCm39) Y189S probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hgfac A G 5: 35,199,706 (GRCm39) N63D probably benign Het
Hrc G A 7: 44,985,658 (GRCm39) G270S probably damaging Het
Inhba T A 13: 16,191,893 (GRCm39) W5R probably benign Het
Lipm T C 19: 34,089,311 (GRCm39) S90P probably benign Het
Lmod3 T A 6: 97,224,575 (GRCm39) E415D probably damaging Het
Lrrc37 A T 11: 103,505,081 (GRCm39) S2296T probably damaging Het
Lrrc63 A G 14: 75,323,614 (GRCm39) S537P possibly damaging Het
Map9 T A 3: 82,287,555 (GRCm39) probably null Het
Marf1 T A 16: 13,945,113 (GRCm39) Q1252L probably damaging Het
Mc3r A T 2: 172,091,129 (GRCm39) D117V probably damaging Het
Mepce A G 5: 137,782,982 (GRCm39) V448A possibly damaging Het
Mical1 A T 10: 41,362,873 (GRCm39) M973L probably benign Het
Mmp21 T C 7: 133,280,443 (GRCm39) T176A probably benign Het
Nacc2 A G 2: 25,951,590 (GRCm39) V415A probably damaging Het
Neb G A 2: 52,083,243 (GRCm39) T1639I probably damaging Het
Nfia A G 4: 97,999,488 (GRCm39) H485R possibly damaging Het
Nlrp9a C T 7: 26,257,762 (GRCm39) T460I probably benign Het
Or10p21 A T 10: 128,847,156 (GRCm39) M1L probably benign Het
Or52z15 T A 7: 103,332,781 (GRCm39) N285K probably damaging Het
Or56b35 T C 7: 104,964,158 (GRCm39) Y316H probably benign Het
Or8g24 T A 9: 38,989,379 (GRCm39) I221F probably damaging Het
Or8k32 T A 2: 86,369,113 (GRCm39) I49F possibly damaging Het
Or9s13 T A 1: 92,547,864 (GRCm39) C79S possibly damaging Het
Otoa T A 7: 120,693,824 (GRCm39) L68Q probably damaging Het
Pclo A T 5: 14,730,399 (GRCm39) probably benign Het
Pcsk2 T A 2: 143,591,060 (GRCm39) Y186N probably damaging Het
Pigz A G 16: 31,764,246 (GRCm39) T435A probably benign Het
Pja2 T C 17: 64,616,085 (GRCm39) D270G probably benign Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Popdc3 A G 10: 45,194,015 (GRCm39) D272G probably benign Het
Prr5 A T 15: 84,626,178 (GRCm39) K84N possibly damaging Het
Prss36 T C 7: 127,532,744 (GRCm39) D716G probably benign Het
Rapgef5 T A 12: 117,712,161 (GRCm39) D547E probably damaging Het
Slc4a11 T A 2: 130,526,972 (GRCm39) I719F probably damaging Het
Smpd2 A G 10: 41,365,344 (GRCm39) W51R probably damaging Het
Snrpb T A 2: 130,021,196 (GRCm39) probably benign Het
Sox9 A G 11: 112,674,646 (GRCm39) E148G probably damaging Het
Strbp G A 2: 37,515,267 (GRCm39) T253I probably damaging Het
Sult1d1 A T 5: 87,707,685 (GRCm39) M145K probably damaging Het
Syt17 T C 7: 118,036,141 (GRCm39) D74G probably benign Het
Taf5l A C 8: 124,729,714 (GRCm39) probably null Het
Tas2r131 T G 6: 132,934,639 (GRCm39) I57L probably benign Het
Tcf25 A G 8: 124,108,176 (GRCm39) N77S possibly damaging Het
Tmem253 A G 14: 52,255,268 (GRCm39) T57A possibly damaging Het
Trrap A G 5: 144,786,730 (GRCm39) K3170R possibly damaging Het
Tspan17 A G 13: 54,941,111 (GRCm39) N130S probably damaging Het
Vmn1r216 C T 13: 23,283,367 (GRCm39) L17F probably damaging Het
Vmn2r3 T A 3: 64,182,698 (GRCm39) T334S probably benign Het
Wnk2 G T 13: 49,229,821 (GRCm39) A901E probably damaging Het
Zc3hav1 T C 6: 38,284,275 (GRCm39) T947A probably benign Het
Zfhx3 C T 8: 109,520,135 (GRCm39) P419L probably damaging Het
Zfp292 A G 4: 34,819,549 (GRCm39) S258P probably damaging Het
Zfp354c T C 11: 50,706,253 (GRCm39) Y274C probably damaging Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T probably benign Het
Zfp964 A G 8: 70,116,563 (GRCm39) T388A unknown 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
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
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'- CTCTAGAGGGAACAGAATAGTCAC -3'
(R):5'- TTAGTCCCGTTTGCACTGGC -3'

Sequencing Primer
(F):5'- GTCCTGGAACTCACTGTGTAGAC -3'
(R):5'- CACTGGCTCCTGCGGTTTG -3'
Posted On 2017-02-15