|Institutional Source||Beutler Lab|
|Gene Name||neuroepithelial cell transforming gene 1|
|Synonyms||mNET1, 0610025H04Rik, 9530071N24Rik, Net1 homolog|
|Is this an essential gene?||Possibly non essential (E-score: 0.299)|
|Stock #||R8317 (G1)|
|Chromosomal Location||3882018-3918220 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 3907856 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 66 (K66E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091853]|
|Predicted Effect||possibly damaging
AA Change: K66E
PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: K66E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed mammary gland development during puberty associated with slower ductal extension, reduced ductal branching and epithelial cell proliferation, disorganized myoepithelial and ductal epithelial cells, and increased collagen deposition. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Net1||
(F):5'- ACTCTGTAGCAATCCCGTTCAG -3'
(R):5'- CCAGAGACAATTTGGAATTTCCC -3'
(F):5'- GTAGCAATCCCGTTCAGTTTTC -3'
(R):5'- CATATGCACCTGCGTGTGTACAG -3'