Incidental Mutation 'IGL02553:Hk1'
ID298556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hk1
Ensembl Gene ENSMUSG00000037012
Gene Namehexokinase 1
SynonymsmHk1-s, Hk-1, Hk1-s
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.317) question?
Stock #IGL02553
Quality Score
Status
Chromosome10
Chromosomal Location62268855-62379908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62295773 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 268 (S268P)
Ref Sequence ENSEMBL: ENSMUSP00000118601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130422] [ENSMUST00000139228] [ENSMUST00000143179] [ENSMUST00000152761]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072357
AA Change: S273P

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: S273P

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 possibly damaging
Transcript: ENSMUST00000099691
AA Change: S269P

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: S269P

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 possibly damaging
Transcript: ENSMUST00000116238
AA Change: S273P

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: S273P

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 possibly damaging
Transcript: ENSMUST00000130422
AA Change: S268P

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: S268P

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
Predicted Effect probably benign
Transcript: ENSMUST00000139228
SMART Domains Protein: ENSMUSP00000118166
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 3 184 1.4e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142527
Predicted Effect probably benign
Transcript: ENSMUST00000143179
SMART Domains Protein: ENSMUSP00000120151
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 5 80 5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152761
SMART Domains Protein: ENSMUSP00000117752
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 2 205 5.6e-88 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,351,924 S1326P probably damaging Het
Alpk1 A T 3: 127,673,321 L1103Q probably damaging Het
Arhgap11a A C 2: 113,837,561 probably benign Het
Arl6ip6 A G 2: 53,192,214 Y31C possibly damaging Het
Arpin G T 7: 79,927,647 D217E possibly damaging Het
Atp13a4 C T 16: 29,422,703 V735I probably benign Het
Ccdc146 A T 5: 21,297,633 F753L probably benign Het
Cdh3 T A 8: 106,544,248 L511* probably null Het
Chrna1 A T 2: 73,566,862 I361N possibly damaging Het
Clk2 G A 3: 89,175,713 R432H probably damaging Het
Col9a1 T C 1: 24,221,937 probably benign Het
Cstf1 G T 2: 172,377,854 R295L probably benign Het
Dsg2 A G 18: 20,592,410 D526G probably damaging Het
Dsg4 T A 18: 20,462,520 H593Q probably benign Het
Dysf T C 6: 84,130,127 Y1171H possibly damaging Het
Erbb4 A G 1: 68,305,864 L566P probably benign Het
Fam185a T A 5: 21,455,831 D281E probably damaging Het
Fam185a T A 5: 21,429,841 probably benign Het
Fam91a1 T A 15: 58,432,982 probably null Het
Fat2 A G 11: 55,311,283 W322R probably damaging Het
Fbxw8 T A 5: 118,066,060 probably benign Het
Ganc A G 2: 120,458,134 T874A probably benign Het
Gm3543 T C 14: 41,980,091 I145M probably benign Het
Gtf2i G A 5: 134,245,161 T712I probably damaging Het
Hmcn1 A G 1: 150,993,023 V10A probably benign Het
Hsd17b4 C T 18: 50,162,097 probably benign Het
Ighv1-75 A T 12: 115,834,105 W66R probably damaging Het
Kif21b G T 1: 136,154,121 D636Y probably damaging Het
Kif5b A T 18: 6,220,914 I398N probably benign Het
Metap2 T C 10: 93,865,449 M165V probably damaging Het
Mterf2 A C 10: 85,120,467 L98V probably damaging Het
Muc16 A G 9: 18,498,553 probably null Het
Myo3b A G 2: 70,095,224 M12V probably benign Het
Nat10 C A 2: 103,752,668 R136I probably damaging Het
Nsd2 T G 5: 33,846,198 S231A probably damaging Het
Olfr1243 T C 2: 89,527,931 T160A probably benign Het
Olfr1281 A T 2: 111,328,988 M190L probably benign Het
Pcdhb14 T A 18: 37,448,018 L59* probably null Het
Pias4 A G 10: 81,163,787 L144P probably damaging Het
Plxna2 T A 1: 194,751,438 N598K probably benign Het
Polq A G 16: 37,041,768 Y550C probably damaging Het
Pot1b T A 17: 55,695,024 probably benign Het
Proz T C 8: 13,065,260 V92A probably benign Het
Rab4a T C 8: 123,823,822 F14L probably benign Het
Riok3 T A 18: 12,143,016 C256* probably null Het
Slc6a1 T A 6: 114,302,490 probably benign Het
Socs5 C T 17: 87,134,991 T453M probably damaging Het
Spata3 T C 1: 86,024,489 L135P probably damaging Het
Spata46 A G 1: 170,311,965 K178E probably damaging Het
Spr T C 6: 85,137,448 N100D probably damaging Het
Srrm4 C T 5: 116,444,565 probably benign Het
Stard3 T C 11: 98,376,563 F169S possibly damaging Het
Tbx1 T A 16: 18,584,097 D222V probably damaging Het
Trbv23 C T 6: 41,216,345 Q56* probably null Het
Tsc22d1 A G 14: 76,417,398 N357S possibly damaging Het
Ugt1a6a C T 1: 88,139,089 P206S probably benign Het
Utp20 A G 10: 88,764,795 V19A probably damaging Het
Vps13b A G 15: 35,646,301 N1517S probably benign Het
Washc2 T C 6: 116,241,610 I672T probably damaging 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
IGL01810:Hk1 APN 10 62353105 missense probably benign 0.13
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
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
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 unclassified 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
X0018:Hk1 UTSW 10 62275706 missense probably benign 0.02
X0063:Hk1 UTSW 10 62275704 nonsense probably null
Posted On2015-04-16