|Institutional Source||Beutler Lab|
|Gene Name||IQ motif containing GTPase activating protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7783 (G1)|
|Chromosomal Location||80711583-80825974 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 80809059 bp|
|Amino Acid Change||Valine to Alanine at position 37 (V37A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145556 (fasta)|
AA Change: V29A
|Predicted Effect||probably benign
AA Change: V37A
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit a late-onset gastric hyperplasia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Iqgap1||
(F):5'- TGGCTCCTAAATAGCACTGTC -3'
(R):5'- ACCTTTTGTGGAACTTCCCTGG -3'
(F):5'- CAGATTAGAGGTAGCCCAT -3'
(R):5'- TAGTTGAGTCCGGAGCCAATC -3'