Tcirg1 - SNV Details



 Human Rare Diseases 
Autosomal recessive malignant osteopetrosis

 Gene Information 
Gene Name Tcirg1
Old Gene Names for Tcirg1 Atp6i
Gene Description T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 [Source:MGI Symbol;Acc:MGI:1350931]
MGI phenotype Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; hydrogen ion transmembrane transporter activity; apical plasma membrane; lysosomal membrane; vacuolar proton-transporting V-type ATPase
V0 domain; ATP hydrolysis coupled proton transport; plasma membrane; proton-transporting V-type ATPase
V0 domain
Homolog in other species TCIRG1
Omim http://omim.org/entry/604592
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000001750
Chromosome 19
Coordinate 3,898,811     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 36
Allele Frequency
G:R0.42
A:V0.58
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL03143
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved