Incidental Mutation 'R8989:Hkdc1'
ID 684299
Institutional Source Beutler Lab
Gene Symbol Hkdc1
Ensembl Gene ENSMUSG00000020080
Gene Name hexokinase domain containing 1
Synonyms
MMRRC Submission 068821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R8989 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62218916-62258270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62229544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 711 (D711G)
Ref Sequence ENSEMBL: ENSMUSP00000020277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020277]
AlphaFold Q91W97
Predicted Effect probably damaging
Transcript: ENSMUST00000020277
AA Change: D711G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: D711G

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: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,760,724 (GRCm39) I1260M probably benign Het
A1cf T A 19: 31,904,556 (GRCm39) F273Y possibly damaging Het
A3galt2 T C 4: 128,655,231 (GRCm39) W45R probably damaging Het
Adam23 A G 1: 63,588,948 (GRCm39) E460G probably damaging Het
Ago1 T A 4: 126,357,583 (GRCm39) T31S probably benign Het
Ago3 T A 4: 126,298,191 (GRCm39) T110S probably damaging Het
Akap6 T C 12: 52,927,654 (GRCm39) F188S probably damaging Het
Asic2 G A 11: 81,043,180 (GRCm39) P38S probably benign Het
Astn2 A T 4: 65,499,890 (GRCm39) C1000S possibly damaging Het
Atp10b T A 11: 43,136,269 (GRCm39) C1132* probably null Het
Atp7b A T 8: 22,510,911 (GRCm39) S527T probably benign Het
Bod1l G A 5: 41,979,025 (GRCm39) T763I probably benign Het
Capn11 A G 17: 45,954,783 (GRCm39) L118P probably damaging Het
Col13a1 T C 10: 61,696,250 (GRCm39) E589G unknown Het
Col6a2 T C 10: 76,440,015 (GRCm39) D630G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Dld G A 12: 31,383,458 (GRCm39) T447I probably damaging Het
Eif4g3 T C 4: 137,912,059 (GRCm39) L1227S probably damaging Het
Elac1 C A 18: 73,880,310 (GRCm39) E29* probably null Het
Entrep1 T A 19: 23,962,196 (GRCm39) Q269L probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fancc G T 13: 63,548,090 (GRCm39) L70M possibly damaging Het
Fgd6 T A 10: 93,959,425 (GRCm39) M1041K probably damaging Het
Fn1 A G 1: 71,663,446 (GRCm39) V1014A possibly damaging Het
Galnt1 C T 18: 24,402,567 (GRCm39) T308I possibly damaging Het
Garre1 T C 7: 33,956,869 (GRCm39) Q332R probably damaging Het
Gpr63 T A 4: 25,007,357 (GRCm39) V27D possibly damaging Het
Hcfc2 T C 10: 82,536,822 (GRCm39) V78A probably damaging Het
Hexd T A 11: 121,109,136 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,960 (GRCm39) T479A possibly damaging Het
Ifna16 A T 4: 88,594,912 (GRCm39) F61Y probably damaging Het
Insrr T A 3: 87,722,664 (GRCm39) N1295K probably damaging Het
Kif5b T A 18: 6,209,021 (GRCm39) R914W probably damaging Het
Lpo T C 11: 87,708,660 (GRCm39) T113A probably benign Het
Mmp21 T C 7: 133,276,746 (GRCm39) D419G probably damaging Het
Naf1 A G 8: 67,313,628 (GRCm39) T204A possibly damaging Het
Nsmce4a T C 7: 130,141,587 (GRCm39) T201A probably benign Het
Nup160 T A 2: 90,548,208 (GRCm39) N980K probably damaging Het
Odad2 T C 18: 7,268,464 (GRCm39) K352E probably benign Het
Or13c7d T C 4: 43,770,346 (GRCm39) I222V possibly damaging Het
Or14j2 A T 17: 37,885,542 (GRCm39) F257L probably benign Het
Or2d3c T A 7: 106,526,366 (GRCm39) Q100L probably damaging Het
Pcdhb19 A G 18: 37,631,476 (GRCm39) T424A probably benign Het
Pclo C T 5: 14,719,325 (GRCm39) A1154V unknown Het
Pramel28 C A 4: 143,691,770 (GRCm39) A318S probably benign Het
Psma8 T A 18: 14,890,404 (GRCm39) D181E probably benign Het
Rhpn2 C A 7: 35,053,446 (GRCm39) probably benign Het
Serpinb6e G T 13: 34,022,967 (GRCm39) H139N possibly damaging Het
Slc26a7 T A 4: 14,533,642 (GRCm39) I394F probably damaging Het
Spmip5 T C 19: 58,776,153 (GRCm39) E100G probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Taok3 T C 5: 117,379,227 (GRCm39) S421P probably benign Het
Tas2r143 T G 6: 42,377,828 (GRCm39) D219E probably damaging Het
Tcaf1 G A 6: 42,663,707 (GRCm39) R58C probably damaging Het
Tenm3 A T 8: 48,688,383 (GRCm39) Y2401* probably null Het
Tut1 T C 19: 8,937,116 (GRCm39) V200A possibly damaging Het
Unc5c T A 3: 141,509,467 (GRCm39) probably benign Het
Vmn2r28 T G 7: 5,493,473 (GRCm39) I158L probably benign Het
Vmn2r72 T A 7: 85,404,134 (GRCm39) H19L probably benign Het
Xpo4 A G 14: 57,828,475 (GRCm39) M795T probably benign Het
Zc3h12a C A 4: 125,014,743 (GRCm39) R247L probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F 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
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: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
R9331:Hkdc1 UTSW 10 62,236,114 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGATGCCCGGTCGTTACTTG -3'
(R):5'- AGACGCCAACTTACTTATGGC -3'

Sequencing Primer
(F):5'- CCCGGTCGTTACTTGGAAGG -3'
(R):5'- GCCAACTTACTTATGGCATTCATCAG -3'
Posted On 2021-10-11