|Institutional Source||Beutler Lab|
|Gene Name||PDZ and LIM domain 1 (elfin)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8331 (G1)|
|Chromosomal Location||40221173-40271842 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 40230551 bp|
|Amino Acid Change||Threonine to Isoleucine at position 212 (T212I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064545 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068439] [ENSMUST00000182432]|
|Predicted Effect||possibly damaging
AA Change: T212I
PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: T212I
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdlim1||
(F):5'- CATGTAACCTCAGGCTCTGG -3'
(R):5'- GCAACATTGTCAGGGGAGTTG -3'
(F):5'- CTCTGGGGAAGATGGCAAGCTC -3'
(R):5'- TTGGAGACATGGGATAATCACTGTCC -3'