Lct - SNV Details



 Human Rare Diseases 
Congenital lactase deficiency

 Gene Information 
Gene Name Lct
Old Gene Names for Lct Gm100 , Lphl
Gene Description lactase [Source:MGI Symbol;Acc:MGI:104576]
Uniprot Name
CCDS Name
Gene GO
response to estrogen stimulus; brush border; response to lead ion; carbohydrate metabolic process; response to hypoxia; response to sucrose stimulus; transferase activity; response to drug; lactase activity; response to nickel cation; response to ethanol; cation binding; response to starvation; hydrolase activity
hydrolyzing O-glycosyl compounds; response to nutrient
Homolog in other species LCT
Omim http://omim.org/entry/603202
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026354
Chromosome 1
Coordinate 128,300,859     (Assembly: GRCm38)    
Ref Base T
Codon Change Ata/Tta
Var Base A
Zygosity Heterozygous
Read Depth 57
Allele Frequency
T:R0.53
A:V0.47
Amino Acid Position 966
Amino Acid Change I->L (Isoleucine -> Leucine)
Sample ID IGL01022
Median Base Quality 37
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Sift Score 1
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000073190:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycoside hydrolase, superfamily Glycoside_hydrolase_SF IPR017853 ENSMUSP00000073190 Superfamily 904
1370 Description available Search pathways
Glycoside hydrolase, family 1 Glyco_hydro_1 IPR001360 ENSMUSP00000073190 Pfam 903
1367 Description available Search pathways

 Availability Details 
Availability Cryopreserved