Incidental Mutation 'R5138:Hkdc1'
ID 396298
Institutional Source Beutler Lab
Gene Symbol Hkdc1
Ensembl Gene ENSMUSG00000020080
Gene Name hexokinase domain containing 1
Synonyms
MMRRC Submission 042724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R5138 (G1)
Quality Score 167
Status Validated
Chromosome 10
Chromosomal Location 62218916-62258270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62234470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 575 (I575N)
Ref Sequence ENSEMBL: ENSMUSP00000020277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020277]
AlphaFold Q91W97
Predicted Effect probably damaging
Transcript: ENSMUST00000020277
AA Change: I575N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: I575N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159493
Meta Mutation Damage Score 0.9416 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 97% (76/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C A 9: 46,218,119 (GRCm39) probably null Het
Actr10 G A 12: 71,008,653 (GRCm39) G362E probably damaging Het
Aldh1a3 T C 7: 66,057,600 (GRCm39) T278A probably damaging Het
Arpp21 T A 9: 112,008,152 (GRCm39) K116M probably damaging Het
Arrdc3 T C 13: 81,039,184 (GRCm39) Y72H probably damaging Het
Atr T C 9: 95,819,649 (GRCm39) V2212A probably benign Het
Bcdin3d A G 15: 99,368,932 (GRCm39) F89S possibly damaging Het
Cacna1d C A 14: 30,212,929 (GRCm39) A44S probably benign Het
Cbx3 A G 6: 51,452,269 (GRCm39) E28G probably damaging Het
Cdh23 A T 10: 60,148,061 (GRCm39) F2722L probably damaging Het
Clec11a A G 7: 43,954,062 (GRCm39) V297A probably benign Het
Clk2 C A 3: 89,082,806 (GRCm39) probably benign Het
Clybl T A 14: 122,608,716 (GRCm39) C103S possibly damaging Het
Col12a1 T A 9: 79,551,248 (GRCm39) N2123Y probably damaging Het
Corin G A 5: 72,496,402 (GRCm39) P517L probably damaging Het
Ddhd2 A T 8: 26,217,726 (GRCm39) I717N probably damaging Het
Derl2 C A 11: 70,905,390 (GRCm39) G31* probably null Het
Dgcr8 A G 16: 18,095,941 (GRCm39) V523A probably damaging Het
Dnah8 T C 17: 30,984,571 (GRCm39) S3090P probably damaging Het
Dsp C A 13: 38,367,274 (GRCm39) H641N probably benign Het
Dsp A T 13: 38,379,821 (GRCm39) T1590S possibly damaging Het
Duox2 A T 2: 122,128,012 (GRCm39) L57Q probably damaging Het
Etfdh A T 3: 79,530,880 (GRCm39) V47D probably benign Het
Exoc1 T C 5: 76,715,922 (GRCm39) Y823H probably damaging Het
Fam81a C T 9: 70,006,457 (GRCm39) R185K probably benign Het
Fsip2 A G 2: 82,811,768 (GRCm39) I2696V probably benign Het
Glis1 GCACACA GCACA 4: 107,480,302 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,246,664 (GRCm39) N1548K probably benign Het
H3c2 G A 13: 23,936,613 (GRCm39) R84H probably damaging Het
Ifi208 A G 1: 173,518,239 (GRCm39) I449V probably null Het
Ino80 T C 2: 119,213,902 (GRCm39) T1223A probably damaging Het
Kctd9 T C 14: 67,966,197 (GRCm39) probably null Het
Khdrbs1 A G 4: 129,635,647 (GRCm39) Y103H probably benign Het
Kmt2e A G 5: 23,707,693 (GRCm39) H1752R probably damaging Het
Lrp5 T A 19: 3,678,319 (GRCm39) Q512L probably benign Het
Map2k5 T C 9: 63,170,440 (GRCm39) T293A probably damaging Het
Myo7a C A 7: 97,732,806 (GRCm39) R657L probably damaging Het
Myrfl A G 10: 116,631,963 (GRCm39) probably null Het
Nfatc2 G A 2: 168,378,229 (GRCm39) H258Y probably damaging Het
Nup205 T A 6: 35,202,801 (GRCm39) L1336Q probably damaging Het
Or10z1 A G 1: 174,078,395 (GRCm39) S33P probably damaging Het
Or4c113 T C 2: 88,885,291 (GRCm39) I160V probably benign Het
Or5an10 T C 19: 12,276,140 (GRCm39) M119V possibly damaging Het
Otog T A 7: 45,899,430 (GRCm39) S244T possibly damaging Het
Pcdh17 T G 14: 84,684,649 (GRCm39) I372S probably damaging Het
Pira13 A T 7: 3,827,556 (GRCm39) Y200* probably null Het
Plagl1 A G 10: 13,003,919 (GRCm39) probably benign Het
Pnpla7 T C 2: 24,931,115 (GRCm39) F910S possibly damaging Het
Prdm13 G A 4: 21,679,507 (GRCm39) P328S unknown Het
Prdm5 C T 6: 65,833,086 (GRCm39) Q152* probably null Het
Psat1 A G 19: 15,892,312 (GRCm39) F216S possibly damaging Het
Psg21 A T 7: 18,390,453 (GRCm39) M1K probably null Het
Rab11fip3 A T 17: 26,210,000 (GRCm39) S994T probably benign Het
Rax A G 18: 66,071,389 (GRCm39) probably benign Het
Rgs22 A T 15: 36,099,934 (GRCm39) S260R probably benign Het
Ryr2 A T 13: 11,675,175 (GRCm39) H3317Q probably damaging Het
Sc5d A G 9: 42,166,811 (GRCm39) Y243H probably damaging Het
Serpinf1 T C 11: 75,305,854 (GRCm39) E178G probably damaging Het
Slc15a3 A T 19: 10,833,369 (GRCm39) Y462F probably damaging Het
Slc9b1 G A 3: 135,063,534 (GRCm39) probably benign Het
Slit2 C T 5: 48,439,309 (GRCm39) P1111S probably damaging Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
Snw1 T C 12: 87,507,205 (GRCm39) K204E probably benign Het
Steap1 A G 5: 5,786,486 (GRCm39) I317T probably damaging Het
Sval2 A G 6: 41,838,879 (GRCm39) N20S probably damaging Het
Tfrc C A 16: 32,434,027 (GRCm39) Y85* probably null Het
Tmem87a T C 2: 120,202,026 (GRCm39) T412A possibly damaging Het
Utp20 T C 10: 88,583,239 (GRCm39) K2705E probably damaging Het
Vmn1r230 A T 17: 21,067,230 (GRCm39) K140* probably null Het
Vmn2r62 A T 7: 42,414,240 (GRCm39) H734Q possibly damaging Het
Zbtb8os T A 4: 129,240,719 (GRCm39) probably benign Het
Zfp608 A T 18: 55,024,871 (GRCm39) H1466Q probably damaging Het
Zfp957 C T 14: 79,450,362 (GRCm39) C479Y probably damaging 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
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:Hkdc1 UTSW 10 62,234,612 (GRCm39) missense possibly damaging 0.94
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'- AGGAACCTTGAAATGGCCC -3'
(R):5'- GTCTGTGCGCATGTACAAC -3'

Sequencing Primer
(F):5'- AACCTTGAAATGGCCCTGGGG -3'
(R):5'- GTCTGTGCGCATGTACAACAAGATC -3'
Posted On 2016-06-21