|Institutional Source||Beutler Lab|
|Gene Name||nephroblastoma overexpressed gene|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R7957 (G1)|
|Chromosomal Location||54745702-54754039 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 54746338 bp|
|Amino Acid Change||Serine to Isoleucine at position 78 (S78I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054389 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050027]|
|Predicted Effect||possibly damaging
AA Change: S78I
PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S78I
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nov||
(F):5'- CTTGGTTCGCCCCTGATAAC -3'
(R):5'- TGAAAGCTCTCCACACATGTC -3'
(F):5'- GCCCCTGATAACCTGAGTTCG -3'
(R):5'- CACACATGTCAATTACTGTACTGC -3'