Incidental Mutation 'IGL01415:Hkdc1'
ID 80205
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: 0.167) question?
Stock # IGL01415
Quality Score
Status
Chromosome 10
Chromosomal Location 62383137-62422491 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62393859 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 680 (N680Y)
Ref Sequence ENSEMBL: ENSMUSP00000020277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020277]
AlphaFold Q91W97
Predicted Effect probably damaging
Transcript: ENSMUST00000020277
AA Change: N680Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: N680Y

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,200,928 Q42R probably damaging Het
Ankrd44 T C 1: 54,752,928 H316R probably damaging Het
Arfgef2 G A 2: 166,867,355 M1117I probably damaging Het
Cdc42bpg A G 19: 6,310,851 D213G probably damaging Het
Cfap69 G A 5: 5,646,979 P106S probably damaging Het
Chkb A T 15: 89,428,784 L30H probably damaging Het
Cit A G 5: 115,941,903 K758E possibly damaging Het
Clstn3 G A 6: 124,438,822 Q634* probably null Het
Esrra C A 19: 6,912,732 W98C probably damaging Het
Ganab A G 19: 8,914,694 probably benign Het
Gcnt3 G T 9: 70,034,457 H276Q probably benign Het
Gm16506 A G 14: 43,724,173 Y206H probably benign Het
Gm1966 C T 7: 106,603,051 noncoding transcript Het
Ighe A C 12: 113,271,391 L383R unknown Het
Lgals9 T G 11: 78,973,151 D56A probably damaging Het
Marveld3 G A 8: 109,962,073 T12I possibly damaging Het
Nab2 A T 10: 127,665,103 L40Q probably damaging Het
Naip6 T C 13: 100,303,290 E323G probably benign Het
Nubpl T A 12: 52,271,070 V182E possibly damaging Het
Olfr1206 T A 2: 88,865,520 M305K probably benign Het
Olfr1414 A G 1: 92,511,252 Y259H probably damaging Het
Olfr697 A G 7: 106,741,499 V145A probably benign Het
Peg3 A G 7: 6,711,653 I190T probably damaging Het
Plcl1 G A 1: 55,696,396 V299M possibly damaging Het
Ppp4r1 G A 17: 65,813,527 E219K probably damaging Het
Sh3d19 G A 3: 86,098,185 A280T probably benign Het
Srebf2 A G 15: 82,177,462 I370V probably benign Het
Tfb2m A G 1: 179,532,130 probably benign Het
Ttll7 T G 3: 146,909,599 S273A possibly damaging Het
Unc79 A G 12: 103,108,685 N1401D probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Zfand4 G A 6: 116,314,869 R588Q probably benign Het
Other mutations in Hkdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Hkdc1 APN 10 62393789 missense probably damaging 0.99
IGL01300:Hkdc1 APN 10 62395261 splice site probably benign
IGL01935:Hkdc1 APN 10 62400386 missense probably damaging 0.97
IGL02903:Hkdc1 APN 10 62400191 critical splice donor site probably null
IGL03100:Hkdc1 APN 10 62417829 missense probably benign 0.00
IGL03154:Hkdc1 APN 10 62385705 missense probably damaging 1.00
R0368:Hkdc1 UTSW 10 62411707 missense probably null 0.04
R0549:Hkdc1 UTSW 10 62400240 missense probably benign
R0667:Hkdc1 UTSW 10 62411865 splice site probably benign
R0751:Hkdc1 UTSW 10 62398673 missense probably damaging 0.99
R1779:Hkdc1 UTSW 10 62391383 missense probably damaging 1.00
R1929:Hkdc1 UTSW 10 62417898 missense probably benign 0.01
R2271:Hkdc1 UTSW 10 62417898 missense probably benign 0.01
R3831:Hkdc1 UTSW 10 62400212 missense probably benign
R4480:Hkdc1 UTSW 10 62391372 missense probably benign
R4561:Hkdc1 UTSW 10 62409839 missense probably benign 0.00
R4576:Hkdc1 UTSW 10 62385843 missense possibly damaging 0.56
R4655:Hkdc1 UTSW 10 62400463 missense probably benign 0.09
R4723:Hkdc1 UTSW 10 62400354 missense probably benign 0.00
R4810:Hkdc1 UTSW 10 62411525 missense probably benign 0.08
R5086:Hkdc1 UTSW 10 62395274 intron probably benign
R5138:Hkdc1 UTSW 10 62398691 missense probably damaging 1.00
R5781:Hkdc1 UTSW 10 62417933 missense probably damaging 0.98
R5900:Hkdc1 UTSW 10 62408666 missense possibly damaging 0.91
R5982:Hkdc1 UTSW 10 62393810 missense probably benign
R6418:Hkdc1 UTSW 10 62383804 missense possibly damaging 0.93
R6463:Hkdc1 UTSW 10 62393702 missense probably damaging 1.00
R6612:Hkdc1 UTSW 10 62395441 missense possibly damaging 0.48
R6673:Hkdc1 UTSW 10 62403606 missense probably damaging 0.99
R6761:Hkdc1 UTSW 10 62408698 missense possibly damaging 0.93
R6915:Hkdc1 UTSW 10 62401932 missense possibly damaging 0.92
R7114:Hkdc1 UTSW 10 62393843 missense probably damaging 1.00
R7395:Hkdc1 UTSW 10 62385699 missense probably damaging 1.00
R8498:Hkdc1 UTSW 10 62385883 missense probably benign
R8777:Hkdc1 UTSW 10 62398833 missense possibly damaging 0.94
R8777-TAIL:Hkdc1 UTSW 10 62398833 missense possibly damaging 0.94
R8894:Hkdc1 UTSW 10 62408621 missense probably damaging 1.00
R8989:Hkdc1 UTSW 10 62393765 missense probably damaging 1.00
R9331:Hkdc1 UTSW 10 62400335 nonsense probably null
Posted On 2013-11-05