Incidental Mutation 'R8777:Hkdc1'
ID 664756
Institutional Source Beutler Lab
Gene Symbol Hkdc1
Ensembl Gene ENSMUSG00000020080
Gene Name hexokinase domain containing 1
Synonyms
MMRRC Submission 068720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R8777 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62218916-62258270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62234612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 556 (I556T)
Ref Sequence ENSEMBL: ENSMUSP00000020277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020277]
AlphaFold Q91W97
Predicted Effect possibly damaging
Transcript: ENSMUST00000020277
AA Change: I556T

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: I556T

DomainStartEndE-ValueType
Pfam:Hexokinase_1 21 220 3.3e-71 PFAM
Pfam:Hexokinase_2 225 459 5.6e-79 PFAM
Pfam:Hexokinase_1 469 665 9.5e-76 PFAM
Pfam:Hexokinase_2 670 904 5.1e-84 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to genotyping. Mice heterozygous for a knock-out allele exhibit impaired glucose tolerance and female-specific increased in hepatic triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,894 (GRCm39) T816S probably benign Het
Aff4 G A 11: 53,290,783 (GRCm39) S581N probably damaging Het
Aimp2 G A 5: 143,839,825 (GRCm39) A253V probably damaging Het
Arl6ip4 T G 5: 124,254,611 (GRCm39) S35A probably benign Het
Atp1a4 A T 1: 172,059,869 (GRCm39) Y787N probably damaging Het
Btbd8 T G 5: 107,658,293 (GRCm39) I1621R probably damaging Het
Ccdc169 T C 3: 55,058,334 (GRCm39) S13P probably damaging Het
Ccdc186 G A 19: 56,801,793 (GRCm39) S108F probably damaging Het
Ccdc39 G A 3: 33,893,282 (GRCm39) T101I probably benign Het
Cdh13 G T 8: 119,963,706 (GRCm39) probably null Het
Clec1b A T 6: 129,380,537 (GRCm39) E151V probably benign Het
Cplx1 T A 5: 108,673,435 (GRCm39) probably null Het
Diablo T A 5: 123,655,990 (GRCm39) I150F unknown Het
Esp31 T C 17: 38,955,582 (GRCm39) V75A probably benign Het
Gm49336 G A 14: 60,466,185 (GRCm39) L458F probably damaging Het
Grin3b A T 10: 79,808,972 (GRCm39) S241C possibly damaging Het
Gxylt2 A G 6: 100,727,432 (GRCm39) N182S probably damaging Het
Hephl1 T G 9: 14,972,090 (GRCm39) D950A probably benign Het
Ints4 C A 7: 97,134,227 (GRCm39) A53D probably damaging Het
Kmt5c T C 7: 4,745,712 (GRCm39) V124A possibly damaging Het
Lrpprc T A 17: 85,058,657 (GRCm39) Q734H probably benign Het
Map1b T C 13: 99,567,304 (GRCm39) T1806A unknown Het
Mcmbp A T 7: 128,308,855 (GRCm39) F389I probably damaging Het
Mcrs1 C T 15: 99,141,237 (GRCm39) G422S probably damaging Het
Mgam A G 6: 40,632,185 (GRCm39) H173R probably damaging Het
Mib1 G A 18: 10,747,422 (GRCm39) G200S probably benign Het
Myh13 A T 11: 67,252,161 (GRCm39) Q1423L possibly damaging Het
Myh2 A G 11: 67,083,398 (GRCm39) R1454G possibly damaging Het
Mylk4 C T 13: 32,913,089 (GRCm39) V70I probably benign Het
Myof A G 19: 37,968,841 (GRCm39) V358A probably benign Het
Ncor1 T A 11: 62,324,492 (GRCm39) I48F probably benign Het
Ncor1 T A 11: 62,324,494 (GRCm39) H47L probably damaging Het
Neurog2 G T 3: 127,427,742 (GRCm39) R122L probably damaging Het
Npdc1 T A 2: 25,298,129 (GRCm39) L193Q probably damaging Het
Nrxn3 A G 12: 89,227,234 (GRCm39) N290D probably damaging Het
Nynrin T C 14: 56,109,120 (GRCm39) M1409T probably benign Het
Oas1h T C 5: 121,005,107 (GRCm39) L185P probably damaging Het
Or10x4 A T 1: 174,218,848 (GRCm39) Y71F probably damaging Het
Or2z2 C T 11: 58,346,757 (GRCm39) W6* probably null Het
Or6c3 T A 10: 129,309,374 (GRCm39) V271E possibly damaging Het
Osbpl8 T A 10: 111,128,974 (GRCm39) N853K probably benign Het
Pcsk4 G T 10: 80,159,557 (GRCm39) P405Q probably benign Het
Piwil4 A C 9: 14,650,685 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,361,967 (GRCm39) Y547H probably damaging Het
Pramel40 A G 5: 94,465,027 (GRCm39) D471G probably benign Het
Rft1 T C 14: 30,382,156 (GRCm39) L51P probably damaging Het
Rufy2 T G 10: 62,833,660 (GRCm39) L241V possibly damaging Het
Slc5a5 T C 8: 71,343,934 (GRCm39) I155V possibly damaging Het
Slc7a2 T G 8: 41,351,991 (GRCm39) M18R probably damaging Het
Snapc4 A G 2: 26,259,375 (GRCm39) S592P probably benign Het
Strn4 T C 7: 16,550,533 (GRCm39) W86R probably damaging Het
Tenm4 A G 7: 96,545,244 (GRCm39) N2457S probably damaging Het
Tent4a T A 13: 69,658,824 (GRCm39) D337V probably damaging Het
Timd4 C A 11: 46,706,309 (GRCm39) T37N possibly damaging Het
Tmem268 T A 4: 63,496,076 (GRCm39) N172K probably damaging Het
Trrap T A 5: 144,773,949 (GRCm39) V2855D probably benign Het
Tubb6 A T 18: 67,534,598 (GRCm39) T166S probably damaging Het
Tufm A G 7: 126,088,034 (GRCm39) Y179C probably benign Het
Tut7 T C 13: 59,933,597 (GRCm39) N1302D probably benign Het
Ube2r2 C T 4: 41,190,715 (GRCm39) S203L possibly damaging Het
Vldlr G T 19: 27,217,946 (GRCm39) V465L probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r42 A G 7: 8,195,692 (GRCm39) F485L probably benign Het
Other mutations in Hkdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Hkdc1 APN 10 62,229,568 (GRCm39) missense probably damaging 0.99
IGL01300:Hkdc1 APN 10 62,231,040 (GRCm39) splice site probably benign
IGL01415:Hkdc1 APN 10 62,229,638 (GRCm39) missense probably damaging 1.00
IGL01935:Hkdc1 APN 10 62,236,165 (GRCm39) missense probably damaging 0.97
IGL02903:Hkdc1 APN 10 62,235,970 (GRCm39) critical splice donor site probably null
IGL03100:Hkdc1 APN 10 62,253,608 (GRCm39) missense probably benign 0.00
IGL03154:Hkdc1 APN 10 62,221,484 (GRCm39) missense probably damaging 1.00
R0368:Hkdc1 UTSW 10 62,247,486 (GRCm39) missense probably null 0.04
R0549:Hkdc1 UTSW 10 62,236,019 (GRCm39) missense probably benign
R0667:Hkdc1 UTSW 10 62,247,644 (GRCm39) splice site probably benign
R0751:Hkdc1 UTSW 10 62,234,452 (GRCm39) missense probably damaging 0.99
R1779:Hkdc1 UTSW 10 62,227,162 (GRCm39) missense probably damaging 1.00
R1929:Hkdc1 UTSW 10 62,253,677 (GRCm39) missense probably benign 0.01
R2271:Hkdc1 UTSW 10 62,253,677 (GRCm39) missense probably benign 0.01
R3831:Hkdc1 UTSW 10 62,235,991 (GRCm39) missense probably benign
R4480:Hkdc1 UTSW 10 62,227,151 (GRCm39) missense probably benign
R4561:Hkdc1 UTSW 10 62,245,618 (GRCm39) missense probably benign 0.00
R4576:Hkdc1 UTSW 10 62,221,622 (GRCm39) missense possibly damaging 0.56
R4655:Hkdc1 UTSW 10 62,236,242 (GRCm39) missense probably benign 0.09
R4723:Hkdc1 UTSW 10 62,236,133 (GRCm39) missense probably benign 0.00
R4810:Hkdc1 UTSW 10 62,247,304 (GRCm39) missense probably benign 0.08
R5086:Hkdc1 UTSW 10 62,231,053 (GRCm39) intron probably benign
R5138:Hkdc1 UTSW 10 62,234,470 (GRCm39) missense probably damaging 1.00
R5781:Hkdc1 UTSW 10 62,253,712 (GRCm39) missense probably damaging 0.98
R5900:Hkdc1 UTSW 10 62,244,445 (GRCm39) missense possibly damaging 0.91
R5982:Hkdc1 UTSW 10 62,229,589 (GRCm39) missense probably benign
R6418:Hkdc1 UTSW 10 62,219,583 (GRCm39) missense possibly damaging 0.93
R6463:Hkdc1 UTSW 10 62,229,481 (GRCm39) missense probably damaging 1.00
R6612:Hkdc1 UTSW 10 62,231,220 (GRCm39) missense possibly damaging 0.48
R6673:Hkdc1 UTSW 10 62,239,385 (GRCm39) missense probably damaging 0.99
R6761:Hkdc1 UTSW 10 62,244,477 (GRCm39) missense possibly damaging 0.93
R6915:Hkdc1 UTSW 10 62,237,711 (GRCm39) missense possibly damaging 0.92
R7114:Hkdc1 UTSW 10 62,229,622 (GRCm39) missense probably damaging 1.00
R7395:Hkdc1 UTSW 10 62,221,478 (GRCm39) missense probably damaging 1.00
R8498:Hkdc1 UTSW 10 62,221,662 (GRCm39) missense probably benign
R8777-TAIL:Hkdc1 UTSW 10 62,234,612 (GRCm39) missense possibly damaging 0.94
R8894:Hkdc1 UTSW 10 62,244,400 (GRCm39) missense probably damaging 1.00
R8989:Hkdc1 UTSW 10 62,229,544 (GRCm39) missense probably damaging 1.00
R9331:Hkdc1 UTSW 10 62,236,114 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGAAGTCAGCGATGCACTG -3'
(R):5'- TTCAAGGTACCTACAGGGAGGC -3'

Sequencing Primer
(F):5'- TCAGCGATGCACTGTACGATG -3'
(R):5'- AACAGAGGTTCCCGTTCTTTTG -3'
Posted On 2021-03-08