Incidental Mutation 'R1647:Hk3'
ID 173979
Institutional Source Beutler Lab
Gene Symbol Hk3
Ensembl Gene ENSMUSG00000025877
Gene Name hexokinase 3
Synonyms
MMRRC Submission 039683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1647 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55153798-55169198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55162274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 110 (F110S)
Ref Sequence ENSEMBL: ENSMUSP00000115227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052949] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000148221] [ENSMUST00000153665]
AlphaFold Q3TRM8
Predicted Effect probably damaging
Transcript: ENSMUST00000052949
AA Change: F165S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: F165S

DomainStartEndE-ValueType
Pfam:Hexokinase_1 29 232 3.7e-76 PFAM
Pfam:Hexokinase_2 234 473 1.9e-87 PFAM
Pfam:Hexokinase_1 475 674 2.2e-77 PFAM
Pfam:Hexokinase_2 676 915 2.3e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123097
AA Change: F165S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: F165S

DomainStartEndE-ValueType
Pfam:Hexokinase_1 29 232 3.3e-77 PFAM
Pfam:Hexokinase_2 234 457 6e-74 PFAM
Pfam:Hexokinase_1 430 629 3e-78 PFAM
Pfam:Hexokinase_2 631 870 1e-104 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126234
AA Change: F165S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: F165S

DomainStartEndE-ValueType
Pfam:Hexokinase_1 31 230 2.4e-63 PFAM
Pfam:Hexokinase_2 236 470 2.9e-62 PFAM
Pfam:Hexokinase_1 480 673 2e-69 PFAM
Pfam:Hexokinase_2 678 912 1.5e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132309
SMART Domains Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877

DomainStartEndE-ValueType
Pfam:Hexokinase_1 29 164 4.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135983
Predicted Effect probably benign
Transcript: ENSMUST00000148221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149644
Predicted Effect probably damaging
Transcript: ENSMUST00000153665
AA Change: F110S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: F110S

DomainStartEndE-ValueType
Pfam:Hexokinase_1 1 177 8.5e-70 PFAM
Pfam:Hexokinase_2 179 418 9.4e-88 PFAM
Pfam:Hexokinase_1 420 619 1.2e-77 PFAM
Pfam:Hexokinase_2 621 860 1.1e-103 PFAM
Meta Mutation Damage Score 0.9486 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 97% (70/72)
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 hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,768 (GRCm39) S184P probably damaging Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Anxa10 T C 8: 62,545,618 (GRCm39) D38G probably damaging Het
Atp8b2 G A 3: 89,849,091 (GRCm39) A1081V probably benign Het
Baz1a G A 12: 55,021,983 (GRCm39) R100C probably damaging Het
Ceacam18 A C 7: 43,288,689 (GRCm39) T147P possibly damaging Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Chrm3 A T 13: 9,928,461 (GRCm39) W192R probably damaging Het
Cnn1 C A 9: 22,019,150 (GRCm39) A202E probably damaging Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Entpd7 A G 19: 43,710,184 (GRCm39) probably benign Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Etaa1 C A 11: 17,896,492 (GRCm39) G542C probably damaging Het
Exosc8 A T 3: 54,641,522 (GRCm39) probably null Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Il22ra1 C A 4: 135,477,771 (GRCm39) H281N probably damaging Het
Inpp4b G T 8: 82,583,403 (GRCm39) probably benign Het
Itga11 A G 9: 62,667,652 (GRCm39) N662D probably benign Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Lamb2 G A 9: 108,358,622 (GRCm39) probably null Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Lnx2 C A 5: 146,964,152 (GRCm39) V468L probably benign Het
Lrriq1 A T 10: 103,006,509 (GRCm39) C1205* probably null Het
Lsm4 A G 8: 71,130,456 (GRCm39) Y25C probably damaging Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Miip T C 4: 147,949,691 (GRCm39) S174G probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Msh2 C T 17: 87,980,064 (GRCm39) A14V probably benign Het
Nbea T A 3: 55,537,650 (GRCm39) I2828F probably damaging Het
Nkx2-3 A T 19: 43,602,895 (GRCm39) Q167L probably damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Pate9 A G 9: 36,445,736 (GRCm39) S72P possibly damaging Het
Phldb1 G A 9: 44,626,730 (GRCm39) P572S probably damaging Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Prr12 T A 7: 44,683,616 (GRCm39) N1683Y probably benign Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Pygl T A 12: 70,243,784 (GRCm39) I553F possibly damaging Het
Rasd1 T C 11: 59,854,920 (GRCm39) M187V probably benign Het
Rasgrf1 A G 9: 89,835,973 (GRCm39) I234V probably benign Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdhaf3 T C 6: 6,956,126 (GRCm39) Y34H probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Slc45a3 G A 1: 131,905,262 (GRCm39) G81D probably damaging Het
Spata2l T C 8: 123,960,041 (GRCm39) N416S probably benign Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tet2 A G 3: 133,191,641 (GRCm39) V931A probably benign Het
Tmem190 A G 7: 4,787,120 (GRCm39) D108G probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably damaging Het
Other mutations in Hk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Hk3 APN 13 55,162,239 (GRCm39) critical splice donor site probably null
IGL01314:Hk3 APN 13 55,154,876 (GRCm39) splice site probably benign
IGL02043:Hk3 APN 13 55,162,908 (GRCm39) missense probably damaging 1.00
IGL02197:Hk3 APN 13 55,162,281 (GRCm39) missense probably damaging 1.00
IGL02619:Hk3 APN 13 55,162,107 (GRCm39) missense probably damaging 1.00
R0454:Hk3 UTSW 13 55,156,518 (GRCm39) missense probably damaging 1.00
R0518:Hk3 UTSW 13 55,162,239 (GRCm39) critical splice donor site probably null
R0521:Hk3 UTSW 13 55,162,239 (GRCm39) critical splice donor site probably null
R0709:Hk3 UTSW 13 55,162,543 (GRCm39) missense probably damaging 1.00
R1386:Hk3 UTSW 13 55,154,843 (GRCm39) splice site probably null
R1567:Hk3 UTSW 13 55,154,418 (GRCm39) missense probably damaging 1.00
R1648:Hk3 UTSW 13 55,162,274 (GRCm39) missense probably damaging 1.00
R1663:Hk3 UTSW 13 55,154,388 (GRCm39) missense probably benign 0.00
R1936:Hk3 UTSW 13 55,159,204 (GRCm39) missense probably damaging 0.98
R1940:Hk3 UTSW 13 55,159,204 (GRCm39) missense probably damaging 0.98
R1966:Hk3 UTSW 13 55,162,268 (GRCm39) missense probably damaging 1.00
R2345:Hk3 UTSW 13 55,156,806 (GRCm39) missense probably damaging 1.00
R4838:Hk3 UTSW 13 55,154,231 (GRCm39) missense probably damaging 1.00
R4852:Hk3 UTSW 13 55,160,409 (GRCm39) missense probably damaging 0.99
R4883:Hk3 UTSW 13 55,158,735 (GRCm39) missense probably benign 0.04
R4888:Hk3 UTSW 13 55,154,405 (GRCm39) missense probably damaging 1.00
R5100:Hk3 UTSW 13 55,156,843 (GRCm39) missense probably damaging 1.00
R5253:Hk3 UTSW 13 55,158,824 (GRCm39) missense probably damaging 1.00
R5328:Hk3 UTSW 13 55,161,306 (GRCm39) missense probably benign 0.00
R5441:Hk3 UTSW 13 55,162,869 (GRCm39) missense probably damaging 1.00
R5493:Hk3 UTSW 13 55,158,984 (GRCm39) missense probably damaging 1.00
R5557:Hk3 UTSW 13 55,159,888 (GRCm39) nonsense probably null
R5575:Hk3 UTSW 13 55,162,583 (GRCm39) missense probably damaging 0.99
R5578:Hk3 UTSW 13 55,159,994 (GRCm39) missense probably damaging 1.00
R5686:Hk3 UTSW 13 55,154,626 (GRCm39) missense probably damaging 1.00
R5872:Hk3 UTSW 13 55,158,617 (GRCm39) missense probably damaging 1.00
R6038:Hk3 UTSW 13 55,154,373 (GRCm39) missense probably benign 0.13
R6038:Hk3 UTSW 13 55,154,373 (GRCm39) missense probably benign 0.13
R6314:Hk3 UTSW 13 55,161,393 (GRCm39) missense probably benign 0.02
R6315:Hk3 UTSW 13 55,158,970 (GRCm39) missense probably benign 0.03
R6797:Hk3 UTSW 13 55,158,644 (GRCm39) splice site probably null
R6827:Hk3 UTSW 13 55,159,165 (GRCm39) missense probably damaging 0.98
R6860:Hk3 UTSW 13 55,162,278 (GRCm39) missense probably damaging 0.98
R7082:Hk3 UTSW 13 55,154,710 (GRCm39) missense probably benign 0.40
R7227:Hk3 UTSW 13 55,160,053 (GRCm39) missense probably benign 0.00
R7564:Hk3 UTSW 13 55,159,209 (GRCm39) missense probably damaging 1.00
R8274:Hk3 UTSW 13 55,159,230 (GRCm39) missense possibly damaging 0.95
R9704:Hk3 UTSW 13 55,160,253 (GRCm39) critical splice donor site probably null
X0003:Hk3 UTSW 13 55,154,949 (GRCm39) missense probably benign 0.01
Z1177:Hk3 UTSW 13 55,158,523 (GRCm39) missense probably damaging 0.96
Z1177:Hk3 UTSW 13 55,158,521 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCACCTAAAACCTTTTGTCCAG -3'
(R):5'- TGACAGGCACCAAAGAATGCCG -3'

Sequencing Primer
(F):5'- CCTAAAACCTTTTGTCCAGGAAATG -3'
(R):5'- GTGATTCCTCAAGAGGTGATCC -3'
Posted On 2014-04-24