Incidental Mutation 'R7564:Hk3'
ID 585327
Institutional Source Beutler Lab
Gene Symbol Hk3
Ensembl Gene ENSMUSG00000025877
Gene Name hexokinase 3
Synonyms
MMRRC Submission 045656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7564 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55153798-55169198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55159209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 449 (C449F)
Ref Sequence ENSEMBL: ENSMUSP00000051215 (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: C449F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: C449F

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 benign
Transcript: ENSMUST00000123097
SMART Domains Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877

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: C449F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: C449F

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 probably benign
Transcript: ENSMUST00000148221
Predicted Effect probably damaging
Transcript: ENSMUST00000153665
AA Change: C394F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: C394F

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 0.4426 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (56/57)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 G A 9: 104,000,288 (GRCm39) E681K possibly damaging Het
Accsl A T 2: 93,688,501 (GRCm39) M411K possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Bag4 G A 8: 26,267,507 (GRCm39) R108* probably null Het
Cpa1 C T 6: 30,641,767 (GRCm39) T197M probably damaging Het
Cyb561d2 A G 9: 107,418,218 (GRCm39) V50A probably benign Het
Dact1 A G 12: 71,365,325 (GRCm39) D665G probably damaging Het
Dcaf4 G A 12: 83,588,297 (GRCm39) V499I probably damaging Het
Depdc5 T G 5: 33,058,854 (GRCm39) I274M probably damaging Het
Dnah3 T A 7: 119,570,817 (GRCm39) Q2219L probably benign Het
Ect2 A T 3: 27,170,272 (GRCm39) probably benign Het
Efcab14 C A 4: 115,617,159 (GRCm39) S289R probably benign Het
Fmn2 T C 1: 174,437,140 (GRCm39) L1037P unknown Het
Fsip2 G A 2: 82,819,361 (GRCm39) M5031I probably benign Het
Gm19410 A G 8: 36,274,151 (GRCm39) M1435V probably benign Het
Gm8005 G T 14: 42,261,499 (GRCm39) Q44K Het
Hdgfl2 T A 17: 56,406,860 (GRCm39) D591E unknown Het
Hmcn1 T C 1: 150,531,586 (GRCm39) M3228V probably benign Het
Kifap3 C T 1: 163,743,337 (GRCm39) R773C probably damaging Het
Kndc1 T C 7: 139,500,612 (GRCm39) V659A probably benign Het
Lhb C T 7: 45,071,101 (GRCm39) R109C probably damaging Het
Lnpep A G 17: 17,798,854 (GRCm39) I267T probably benign Het
Lypla1 T A 1: 4,878,590 (GRCm39) probably null Het
Map3k21 T C 8: 126,654,447 (GRCm39) probably null Het
Mapkbp1 A G 2: 119,844,232 (GRCm39) T319A probably benign Het
Mms19 T C 19: 41,935,455 (GRCm39) T854A probably benign Het
Mphosph8 A G 14: 56,911,495 (GRCm39) T173A probably benign Het
Mtcl1 C T 17: 66,678,322 (GRCm39) R668H probably benign Het
Myo5b G A 18: 74,767,582 (GRCm39) E297K possibly damaging Het
Nrg2 A T 18: 36,157,449 (GRCm39) L412Q probably damaging Het
Nrtn T C 17: 57,058,473 (GRCm39) D176G probably damaging Het
Nrxn1 G T 17: 90,670,334 (GRCm39) Q1134K possibly damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or51t4 C T 7: 102,598,473 (GRCm39) P267L probably damaging Het
Pick1 T C 15: 79,139,781 (GRCm39) V360A unknown Het
Pigr T A 1: 130,769,403 (GRCm39) N71K possibly damaging Het
Ppox T C 1: 171,107,765 (GRCm39) N96S probably benign Het
Pramel29 C A 4: 143,939,525 (GRCm39) C4F probably damaging Het
Qrfprl G T 6: 65,429,891 (GRCm39) E196* probably null Het
Rasa1 T C 13: 85,376,827 (GRCm39) T603A probably benign Het
Rhd T C 4: 134,603,770 (GRCm39) L97P probably damaging Het
Sec61a2 T C 2: 5,887,415 (GRCm39) I147V probably benign Het
Sh3bp1 C T 15: 78,795,760 (GRCm39) P630S probably damaging Het
Sh3d21 T C 4: 126,044,937 (GRCm39) T581A probably benign Het
Slc36a2 A G 11: 55,053,498 (GRCm39) I380T probably benign Het
Slc36a4 T A 9: 15,638,108 (GRCm39) V178D probably damaging Het
Smad7 C A 18: 75,526,906 (GRCm39) L251I probably benign Het
Sspo G A 6: 48,426,434 (GRCm39) S151N probably benign Het
St3gal4 C T 9: 34,963,549 (GRCm39) R253Q probably benign Het
Trappc14 C A 5: 138,261,104 (GRCm39) probably null Het
Ttbk1 T C 17: 46,787,857 (GRCm39) I242V possibly damaging Het
Ttn G A 2: 76,798,864 (GRCm39) A470V unknown Het
Unc13b T C 4: 43,091,258 (GRCm39) V28A probably damaging Het
Vmn1r149 A G 7: 22,137,530 (GRCm39) V42A possibly damaging Het
Zbtb21 A T 16: 97,752,740 (GRCm39) C514* probably null Het
Zfp236 A T 18: 82,662,366 (GRCm39) C570* probably null Het
Zfp277 T A 12: 40,379,594 (GRCm39) R313S probably damaging Het
Zfp329 A T 7: 12,544,967 (GRCm39) C186S probably damaging Het
Zscan4-ps2 A G 7: 11,248,954 (GRCm39) probably benign 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
R1647:Hk3 UTSW 13 55,162,274 (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
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'- CATGGCTTCCCGCATTTGTG -3'
(R):5'- GTACCAATGAACAGGTTTAGGAC -3'

Sequencing Primer
(F):5'- GCATTTGTGCCTGCACCAC -3'
(R):5'- CCTTATCTGGCATCAATGGGAG -3'
Posted On 2019-10-17