|Institutional Source||Beutler Lab|
|Gene Name||IQ motif containing with AAA domain|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7240 (G1)|
|Chromosomal Location||90042132-90153401 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 90070550 bp|
|Amino Acid Change||Valine to Alanine at position 567 (V567A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148643 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]|
|Predicted Effect||probably damaging
AA Change: V544A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V544A
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: V567A
PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|Coding Region Coverage||
|Validation Efficiency||96% (50/52)|
|MGI Phenotype||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 ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Iqca||
(F):5'- CTGGGCAAGCACTATGGAAG -3'
(R):5'- CTAGGCTGTGTCAGGTCCATAG -3'
(F):5'- CTATGGAAGAGAGACAAGGCTTCAC -3'
(R):5'- ATGAGTAGGACTGACGTGCTCC -3'