|Institutional Source||Beutler Lab|
|Gene Name||growth factor receptor bound protein 2-associated protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5684 (G1)|
|Chromosomal Location||80764438-80880519 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80769670 bp|
|Amino Acid Change||Lysine to Arginine at position 637 (K637R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034150 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034150] [ENSMUST00000210676]|
|Predicted Effect||probably damaging
AA Change: K637R
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: K637R
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: K667R
PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|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 a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit developmental defects in the placenta, heart, eye, muscle, and skin, and die between embryonic day 13.5 and 18.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gab1||
(F):5'- TGACCGACCTCTACAAAGGGAG -3'
(R):5'- TCAGAGCCCAGGAGTTCAAG -3'
(F):5'- GGGAGAAACAAATCTATCAGACTTC -3'
(R):5'- GCCCAGGAGTTCAAGACCATTTTTG -3'