Nbeal1 - SNV Details



 Gene Information 
Gene Name Nbeal1
Old Gene Names for Nbeal1 2310076g13rik , A530083i02rik , Ai662228 , A530050o19rik
Gene Description neurobeachin like 1 [Source:MGI Symbol;Acc:MGI:2444343]
Uniprot Name
CCDS Name
Gene GO
protein binding; binding; cellular_component; biological_process; molecular_function
Homolog in other species NBEAL1
Omim http://omim.org/entry/609816
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
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 ENSMUSG00000073664
Chromosome 1
Coordinate 60,328,103     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.33
C:V0.67
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL00334
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved