|Institutional Source||Beutler Lab|
|Gene Name||hexokinase domain containing 1|
|Is this an essential gene?||Probably non essential (E-score: 0.209)|
|Stock #||R4480 (G1)|
|Chromosomal Location||62383137-62422491 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 62391372 bp|
|Amino Acid Change||Isoleucine to Valine at position 769 (I769V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020277 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020277]|
|Predicted Effect||probably benign
AA Change: I769V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: I769V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0593|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
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||
|Other mutations in Hkdc1||
(F):5'- ACTGGAGTCTTCCTACCCAC -3'
(R):5'- TGACCGTGTGACTTGCTTTC -3'
(F):5'- ACTGCTGGATGGCTTCAAAC -3'
(R):5'- GACTTGCTTTCCACACCCAGAC -3'