Hmcn1 - SNV Details



 Gene Information 
Gene Name Hmcn1
Old Gene Names for Hmcn1 Eg545370 , Gm201
Gene Description hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]
Uniprot Name
CCDS Name
Gene GO
basement membrane; cell cortex; protein binding; cell junction; extracellular vesicular exosome; extracellular region; biological_process; calcium ion binding; molecular_function
Homolog in other species HMCN1
Omim http://omim.org/entry/608548
Immgen Expression
LOW
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN
MEDIAN
MEDIAN
MEDIAN
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MEDIAN
MEDIAN
MEDIAN
MEDIAN
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MEDIAN
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Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066842
Chromosome 1
Coordinate 150,619,009     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 59
Allele Frequency
T:R0.53
C:V0.46
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02676
Median Base Quality 38
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved