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; vascular endothelial growth factor-activated receptor activity; cell cortex; integral to plasma membrane; protein binding; cell junction; extracellular region; ATP binding; biological_process; vascular endothelial growth factor receptor signaling pathway; calcium ion binding; molecular_function
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
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MEDIAN
MEDIAN
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MEDIAN
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MEDIAN
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Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000066842
Chromosome 1
Coordinate 150,632,552     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 52
Allele Frequency
A:R0.48
T:V0.52
Amino Acid Change Disrupted splicing
Sample ID IGL01112
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved