|Institutional Source||Beutler Lab|
|Gene Name||inositol monophosphatase domain containing 1|
|Synonyms||1110001C20Rik, Jaws, gPAPP|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7275 (G1)|
|Chromosomal Location||4762484-4793355 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 4792962 bp|
|Amino Acid Change||Glycine to Tryptophan at position 48 (G48W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000082013 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084949]|
|Predicted Effect||probably damaging
AA Change: G48W
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: G48W
|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 inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutants are neonatal lethal with growth retardation. Mutant embryo shows craniofacial abnormalities and shortened limbs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Impad1||
(F):5'- GTCATCTTATCATCGGCGCC -3'
(R):5'- TAACCCGGATATACACTCTTGC -3'
(F):5'- CCTCGCGCGTCTTCCCC -3'
(R):5'- CTTTGTAGCGGACTCAGCG -3'