Incidental Mutation 'R4648:Hk1'
ID 350500
Institutional Source Beutler Lab
Gene Symbol Hk1
Ensembl Gene ENSMUSG00000037012
Gene Name hexokinase 1
Synonyms mHk1-s, Hk1-s, Hk-1
MMRRC Submission 041909-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R4648 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62104634-62215687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 62140558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 105 (S105R)
Ref Sequence ENSEMBL: ENSMUSP00000118601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130422] [ENSMUST00000139228] [ENSMUST00000143179] [ENSMUST00000152761]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072357
AA Change: S110R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: S110R

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: ENSMUST00000099691
AA Change: S106R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: S106R

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 benign
Transcript: ENSMUST00000116238
AA Change: S110R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: S110R

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 benign
Transcript: ENSMUST00000130422
AA Change: S105R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: S105R

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
AA Change: S92R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118166
Gene: ENSMUSG00000037012
AA Change: S92R

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
AA Change: S90R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117752
Gene: ENSMUSG00000037012
AA Change: S90R

DomainStartEndE-ValueType
Pfam:Hexokinase_1 2 205 5.6e-88 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700031F05Rik G T X: 101,904,515 (GRCm39) N132K possibly damaging Het
2010315B03Rik T A 9: 124,056,228 (GRCm39) Y232F probably benign Het
2310079G19Rik T C 16: 88,424,255 (GRCm39) S79G probably benign Het
4930568D16Rik T A 2: 35,244,458 (GRCm39) Y298F probably damaging Het
Alpk2 A G 18: 65,482,953 (GRCm39) F352L probably damaging Het
Angpt1 T A 15: 42,539,580 (GRCm39) Y93F probably benign Het
Ankrd33b T C 15: 31,325,170 (GRCm39) *129W probably null Het
Atp5pf T C 16: 84,625,343 (GRCm39) M87V probably benign Het
Atp8b3 A G 10: 80,361,457 (GRCm39) S822P possibly damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bbs2 A T 8: 94,807,507 (GRCm39) V429E probably damaging Het
Bccip C T 7: 133,316,628 (GRCm39) L83F probably damaging Het
Brd9 G A 13: 74,088,895 (GRCm39) V198I probably benign Het
C1galt1c1 A T X: 37,720,349 (GRCm39) S216T probably benign Het
Calhm1 A G 19: 47,132,240 (GRCm39) L125P probably damaging Het
Ccdc110 A T 8: 46,395,705 (GRCm39) Q532L possibly damaging Het
Cdh19 G A 1: 110,852,907 (GRCm39) L343F probably benign Het
Cep350 A G 1: 155,778,344 (GRCm39) S1653P possibly damaging Het
Cmtm4 A G 8: 105,082,952 (GRCm39) I135T possibly damaging Het
Cmya5 A G 13: 93,230,336 (GRCm39) L1584P possibly damaging Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Crp A G 1: 172,525,704 (GRCm39) M1V probably null Het
Csmd1 G A 8: 16,048,788 (GRCm39) Q2305* probably null Het
Cyp2c38 T A 19: 39,449,132 (GRCm39) I74F probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcaf1 A T 9: 106,742,876 (GRCm39) probably benign Het
Dhx16 C G 17: 36,196,527 (GRCm39) A565G probably benign Het
Dock7 C A 4: 98,857,881 (GRCm39) E1448* probably null Het
Dpf2 C T 19: 5,957,109 (GRCm39) R38H probably damaging Het
E030030I06Rik T A 10: 22,024,744 (GRCm39) R56S unknown Het
Etnk1 A G 6: 143,141,000 (GRCm39) Y248C probably damaging Het
Ext1 A G 15: 52,953,383 (GRCm39) S494P possibly damaging Het
Gk2 T C 5: 97,603,579 (GRCm39) S420G probably benign Het
Gm26596 T C 10: 112,765,064 (GRCm39) probably benign Het
Gm5414 G T 15: 101,536,543 (GRCm39) N27K possibly damaging Het
Gskip A G 12: 105,664,988 (GRCm39) D9G probably benign Het
H2-K2 T A 17: 34,194,989 (GRCm39) noncoding transcript Het
Hmg20b T A 10: 81,184,416 (GRCm39) Q129L probably damaging Het
Idnk A G 13: 58,310,683 (GRCm39) D67G probably benign Het
Igfbp5 G T 1: 72,903,222 (GRCm39) H118N probably benign Het
Irf4 A T 13: 30,947,580 (GRCm39) Y427F probably benign Het
Khdc3 A G 9: 73,009,868 (GRCm39) E26G possibly damaging Het
Kif7 T C 7: 79,358,939 (GRCm39) D512G probably damaging Het
Lamb3 T A 1: 193,013,665 (GRCm39) I513N probably damaging Het
Lipo3 A G 19: 33,760,860 (GRCm39) L174P probably damaging Het
Lnx1 C T 5: 74,771,457 (GRCm39) V350I probably benign Het
Map3k21 A G 8: 126,668,850 (GRCm39) D812G probably benign Het
Mast2 G T 4: 116,172,036 (GRCm39) Y637* probably null Het
Matn2 T C 15: 34,428,679 (GRCm39) I681T probably damaging Het
Med18 A T 4: 132,190,274 (GRCm39) V37D possibly damaging Het
Mip T A 10: 128,062,922 (GRCm39) H122Q probably benign Het
Mmp13 A T 9: 7,274,233 (GRCm39) D180V probably damaging Het
Mpg C A 11: 32,180,034 (GRCm39) C187* probably null Het
Mtmr14 A G 6: 113,237,567 (GRCm39) E256G probably benign Het
Myo7b C T 18: 32,100,178 (GRCm39) probably null Het
Nhsl3 G T 4: 129,115,733 (GRCm39) T977K probably benign Het
Nmt1 T A 11: 102,954,743 (GRCm39) V425D probably damaging Het
Nynrin T A 14: 56,110,351 (GRCm39) Y1819* probably null Het
Or10ak16 A G 4: 118,751,147 (GRCm39) N289S possibly damaging Het
Or4c107 T A 2: 88,789,556 (GRCm39) F249I probably damaging Het
Or5i1 T C 2: 87,613,565 (GRCm39) V227A possibly damaging Het
Otof T C 5: 30,540,914 (GRCm39) E875G possibly damaging Het
Paqr3 T A 5: 97,256,069 (GRCm39) R102* probably null Het
Phc1 T C 6: 122,298,872 (GRCm39) I699V possibly damaging Het
Prkdc T G 16: 15,634,638 (GRCm39) D3594E probably benign Het
Pstpip1 A T 9: 56,032,502 (GRCm39) D246V probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Ror2 A T 13: 53,439,536 (GRCm39) C9* probably null Het
Setd1b C T 5: 123,286,175 (GRCm39) A407V unknown Het
Slc26a4 T G 12: 31,590,525 (GRCm39) D376A possibly damaging Het
Smarcad1 A G 6: 65,044,073 (GRCm39) E215G probably benign Het
Spag16 G A 1: 69,866,194 (GRCm39) R11Q probably null Het
Sult1d1 T A 5: 87,713,954 (GRCm39) Q30L probably benign Het
Tbc1d5 A G 17: 51,043,251 (GRCm39) C746R probably benign Het
Tdh A G 14: 63,731,205 (GRCm39) L323P possibly damaging Het
Tet2 A T 3: 133,193,843 (GRCm39) M197K probably benign Het
Tnn T C 1: 159,973,612 (GRCm39) M252V probably benign Het
Trdn G T 10: 33,071,977 (GRCm39) E215* probably null Het
Trem1 G A 17: 48,551,590 (GRCm39) V84I probably benign Het
Tspan5 T C 3: 138,604,076 (GRCm39) F154L probably damaging Het
Usp45 A G 4: 21,825,044 (GRCm39) R647G probably benign Het
Usp50 T A 2: 126,619,953 (GRCm39) I120F probably damaging Het
Vil1 T C 1: 74,471,457 (GRCm39) M746T probably benign Het
Washc4 T A 10: 83,410,407 (GRCm39) M665K possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GACCTCCAATAGAGTCCTGGAG -3'
(R):5'- TGGGTCCAGAGTTGTTCCAG -3'

Sequencing Primer
(F):5'- TGGGTACTCCAAGGGATT -3'
(R):5'- CAGAGTTGTTCCAGCGGGTG -3'
Posted On 2015-10-08