|Institutional Source||Beutler Lab|
|Gene Name||RAS p21 protein activator 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5363 (G1)|
|Chromosomal Location||85214780-85289130 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 85288555 bp|
|Amino Acid Change||Threonine to Lysine at position 118 (T118K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105179 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109552]|
|Predicted Effect||possibly damaging
AA Change: T118K
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T118K
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5. Mice homozygous for a knock-in allele exhibit increased sensitivity to induced cell death and colitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rasa1||
(F):5'- TCAACAGCAGTTTGACTTACTGG -3'
(R):5'- TGTTTCCTCTGCCTGGAGAG -3'
(F):5'- CAGTTTGACTTACTGGTTAGTGGGAG -3'
(R):5'- TTCAACATGATGGCGGCC -3'