Creb3l4 - SNV Details



 Gene Information 
Gene Name Creb3l4
Old Gene Names for Creb3l4 1700012k17rik , Av040530 , Av258827 , 5330432f22rik
Gene Description cAMP responsive element binding protein 3-like 4 [Source:MGI Symbol;Acc:MGI:1916603]
MGI phenotype Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility.
Uniprot Name
CCDS Name
Gene GO
DNA-dependent
DNA binding
cell differentiation
cytoplasmic vesicle
endoplasmic reticulum
endoplasmic reticulum membrane
inner acrosomal membrane
integral to membrane
membrane
multicellular organismal development
nucleus
Homolog in other species CREB3L4
Omim http://omim.org/entry/607138
Immgen Expression
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)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027938
Chromosome 3
Coordinate 90,241,987     (Assembly: GRCm38)    
Ref Base T
Codon Change cAt/cTt
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
T:0.51
A:0.49
Amino Acid Position 138
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL00835
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.34
Polyphen Prediction Benign
Sift Score 0.61
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved