Sash1 - SNV Details



 Gene Information 
Gene Name Sash1
Old Gene Names for Sash1 1100001c18rik , A330076k04rik , 2500002e12rik
Gene Description SAM and SH3 domain containing 1 [Source:MGI Symbol;Acc:MGI:1917347]
Uniprot Name
CCDS Name
Gene GO
protein binding; cellular_component; biological_process; molecular_function
Homolog in other species SASH1
Omim http://omim.org/entry/607955
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
HIGH
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000015305
Chromosome 10
Coordinate 8,733,647     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 130
Allele Frequency
G:R0.51
A:V0.49
Amino Acid Change R->Stop (Arginine -> Stop)
Sample ID IGL02400
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved