Incidental Mutation 'R7227:Hk3'
ID 562248
Institutional Source Beutler Lab
Gene Symbol Hk3
Ensembl Gene ENSMUSG00000025877
Gene Name hexokinase 3
Synonyms
MMRRC Submission 045299-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7227 (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 T at 55160053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 362 (R362H)
Ref Sequence ENSEMBL: ENSMUSP00000051215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052949] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000148221] [ENSMUST00000153665]
AlphaFold Q3TRM8
Predicted Effect probably benign
Transcript: ENSMUST00000052949
AA Change: R362H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: R362H

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
AA Change: R362H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: R362H

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 benign
Transcript: ENSMUST00000126234
AA Change: R362H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: R362H

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 benign
Transcript: ENSMUST00000153665
AA Change: R307H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: R307H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,952,449 (GRCm39) L344H probably damaging Het
Abcb1b T A 5: 8,875,593 (GRCm39) S589T probably damaging Het
Acsm2 A C 7: 119,190,556 (GRCm39) I520L probably benign Het
Ap2a2 T C 7: 141,200,784 (GRCm39) Y544H probably damaging Het
Ascc1 T A 10: 59,843,560 (GRCm39) Y41N probably benign Het
Bend3 T A 10: 43,387,401 (GRCm39) L598Q probably damaging Het
Cfap74 T G 4: 155,545,405 (GRCm39) Y1108* probably null Het
Cxcl17 C A 7: 25,102,319 (GRCm39) R41S probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Dnah2 A G 11: 69,312,222 (GRCm39) Y4370H probably damaging Het
Dzip3 T A 16: 48,771,932 (GRCm39) Q579L probably damaging Het
Enpp3 C T 10: 24,693,742 (GRCm39) M195I unknown Het
Esyt2 A G 12: 116,305,745 (GRCm39) D325G probably damaging Het
Fat1 T G 8: 45,463,646 (GRCm39) I1396S probably benign Het
Gigyf1 T A 5: 137,522,085 (GRCm39) I661K unknown Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Hivep1 T C 13: 42,310,387 (GRCm39) S876P probably benign Het
Ier3ip1 T A 18: 77,027,330 (GRCm39) M53K probably benign Het
Klhl5 T C 5: 65,298,631 (GRCm39) S137P probably benign Het
Kremen2 G T 17: 23,963,573 (GRCm39) Y70* probably null Het
Lag3 C T 6: 124,885,457 (GRCm39) G308S possibly damaging Het
Mab21l4 G T 1: 93,079,736 (GRCm39) N451K probably benign Het
Map4k2 T A 19: 6,396,624 (GRCm39) L542Q probably damaging Het
Mef2d G A 3: 88,065,514 (GRCm39) probably null Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mpp3 T A 11: 101,895,904 (GRCm39) Y457F possibly damaging Het
Mrpl12 T A 11: 120,379,178 (GRCm39) I175N probably damaging Het
Mybbp1a G T 11: 72,338,585 (GRCm39) K728N possibly damaging Het
Nfkb1 C T 3: 135,332,420 (GRCm39) V112M probably damaging Het
Nucb2 A T 7: 116,125,311 (GRCm39) D123V probably damaging Het
Or12j2 A G 7: 139,915,534 (GRCm39) probably benign Het
Orc3 T C 4: 34,572,542 (GRCm39) T629A probably benign Het
Pdk1 T A 2: 71,714,245 (GRCm39) N218K possibly damaging Het
Plce1 A G 19: 38,715,346 (GRCm39) T1298A probably benign Het
Ppan T A 9: 20,799,496 (GRCm39) probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Scn2a A C 2: 65,582,367 (GRCm39) I1572L probably damaging Het
Sec16a A T 2: 26,328,935 (GRCm39) Y1027N probably benign Het
Serpinb3a T A 1: 106,979,359 (GRCm39) T48S probably damaging Het
Slc30a8 A G 15: 52,195,032 (GRCm39) M264V probably benign Het
Slc44a3 A T 3: 121,303,879 (GRCm39) C286S possibly damaging Het
Slc8a2 T C 7: 15,878,906 (GRCm39) I464T possibly damaging Het
Smco1 T C 16: 32,092,833 (GRCm39) M168T possibly damaging Het
Spns2 A T 11: 72,349,513 (GRCm39) Y246* probably null Het
Ssbp2 T C 13: 91,823,244 (GRCm39) M213T probably benign Het
Stk40 G T 4: 126,017,559 (GRCm39) A29S probably benign Het
Thrap3 A T 4: 126,067,296 (GRCm39) F683I probably damaging Het
Tmc5 A G 7: 118,269,889 (GRCm39) T880A possibly damaging Het
Trim38 T A 13: 23,969,946 (GRCm39) N168K possibly damaging Het
Ube2d1 T A 10: 71,091,702 (GRCm39) Y134F possibly damaging Het
Vmn1r67 T A 7: 10,181,475 (GRCm39) Y246* probably null Het
Vmn2r18 T C 5: 151,496,264 (GRCm39) T485A probably damaging Het
Wrn T A 8: 33,738,974 (GRCm39) I1285F probably damaging Het
Xrcc1 C A 7: 24,246,757 (GRCm39) H8Q probably damaging Het
Zkscan4 T C 13: 21,668,413 (GRCm39) V317A 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
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'- ACAGCCACTTGCAATGTCTG -3'
(R):5'- TCAAGGCTGTATCCTCCTGG -3'

Sequencing Primer
(F):5'- AATGTCTGCTGCTCCCTGCTG -3'
(R):5'- AGGCTTGCAGCTTAGCCAG -3'
Posted On 2019-06-26