Incidental Mutation 'IGL02903:Hkdc1'
ID 363716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hkdc1
Ensembl Gene ENSMUSG00000020080
Gene Name hexokinase domain containing 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL02903
Quality Score
Status
Chromosome 10
Chromosomal Location 62218916-62258270 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 62235970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020277]
AlphaFold Q91W97
Predicted Effect probably null
Transcript: ENSMUST00000020277
SMART Domains Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080

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
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 T G 6: 116,397,296 (GRCm39) N296T probably damaging Het
Anks6 C T 4: 47,045,004 (GRCm39) E301K probably damaging Het
Astn1 A G 1: 158,516,120 (GRCm39) S1237G probably damaging Het
Atf6 G A 1: 170,627,283 (GRCm39) P394S probably benign Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
C4bp G A 1: 130,583,722 (GRCm39) T82I probably damaging Het
Cask A T X: 13,418,686 (GRCm39) probably benign Het
Cenpf A T 1: 189,379,073 (GRCm39) S2906T probably damaging Het
Cfl1 T C 19: 5,542,828 (GRCm39) F103L probably benign Het
Chrnb3 A T 8: 27,876,834 (GRCm39) T83S probably damaging Het
Cmtr2 A G 8: 110,949,510 (GRCm39) T607A probably benign Het
Cplane1 G T 15: 8,299,262 (GRCm39) R3150M unknown Het
Cplane1 G T 15: 8,299,263 (GRCm39) R3150S unknown Het
Cts7 A T 13: 61,504,440 (GRCm39) probably benign Het
Dgkz A T 2: 91,770,307 (GRCm39) Y514N possibly damaging Het
Dmrtc1b T A X: 101,757,173 (GRCm39) L206Q probably benign Het
Dus3l C T 17: 57,075,363 (GRCm39) L397F probably damaging Het
Gm6356 C T 14: 6,973,735 (GRCm38) G27E probably damaging Het
Jkampl A G 6: 73,446,103 (GRCm39) Y149H probably damaging Het
Kcmf1 A T 6: 72,835,866 (GRCm39) V21E possibly damaging Het
Kcnh4 T A 11: 100,648,480 (GRCm39) T75S possibly damaging Het
Lemd2 A G 17: 27,412,184 (GRCm39) probably benign Het
Magee1 G T X: 104,166,945 (GRCm39) R910L probably damaging Het
Mcm3ap T C 10: 76,307,092 (GRCm39) probably benign Het
Mfsd4b3-ps T A 10: 39,823,639 (GRCm39) E207V possibly damaging Het
Or2ag15 A G 7: 106,340,917 (GRCm39) S75P probably damaging Het
Or7a38 A G 10: 78,753,250 (GRCm39) D192G probably damaging Het
Pappa T C 4: 65,180,217 (GRCm39) V1026A probably damaging Het
Paxip1 A G 5: 27,953,870 (GRCm39) L942P probably damaging Het
Ppp1r12b A T 1: 134,883,387 (GRCm39) L45Q probably benign Het
Pramel23 A T 4: 143,425,736 (GRCm39) M69K probably benign Het
Ptprq T C 10: 107,502,447 (GRCm39) T824A possibly damaging Het
Rfwd3 T C 8: 112,004,861 (GRCm39) T574A probably benign Het
Rsbn1 T C 3: 103,835,885 (GRCm39) S308P probably damaging Het
Shisal2b T A 13: 105,000,118 (GRCm39) Y35F probably benign Het
Smr2 A T 5: 88,256,489 (GRCm39) I56F probably benign Het
Wdfy4 C T 14: 32,831,607 (GRCm39) R873H 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
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
R8989:Hkdc1 UTSW 10 62,229,544 (GRCm39) missense probably damaging 1.00
R9331:Hkdc1 UTSW 10 62,236,114 (GRCm39) nonsense probably null
Posted On 2015-12-18