|Institutional Source||Beutler Lab|
|Gene Name||IQ motif containing with AAA domain|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4578 (G1)|
|Chromosomal Location||90042132-90153401 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 90073750 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 520 (I520F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108717 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]|
|Predicted Effect||probably damaging
AA Change: I520F
PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: I520F
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: I543F
PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|Coding Region Coverage||
|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'- TCAGGTCATGCCAGAAAGAACTG -3'
(R):5'- GCATACATGAAAGCATACGTCAG -3'
(F):5'- GGTTGAAAAACTGGCTTCTGC -3'
(R):5'- GCATACGTCAGAGCAGCTG -3'