Incidental Mutation 'IGL02584:Pdlim1'
ID 299492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdlim1
Ensembl Gene ENSMUSG00000055044
Gene Name PDZ and LIM domain 1 (elfin)
Synonyms mClim1, CLP36
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02584
Quality Score
Chromosome 19
Chromosomal Location 40210683-40260060 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 40231844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068439] [ENSMUST00000182432]
AlphaFold O70400
Predicted Effect probably null
Transcript: ENSMUST00000068439
SMART Domains Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044

PDZ 12 85 3.23e-18 SMART
Pfam:DUF4749 136 234 4.6e-29 PFAM
LIM 257 308 2.31e-10 SMART
Predicted Effect probably null
Transcript: ENSMUST00000182432
SMART Domains Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044

PDZ 12 85 3.23e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182636
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,744 (GRCm39) Y22F unknown Het
Adgrb3 A G 1: 25,544,065 (GRCm39) L312P probably damaging Het
Anpep T C 7: 79,475,141 (GRCm39) probably benign Het
Arhgef6 T G X: 56,291,738 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,884,146 (GRCm39) D989G probably damaging Het
Ccnj T A 19: 40,833,185 (GRCm39) V121E probably benign Het
Cdyl T C 13: 35,867,769 (GRCm39) L15P probably benign Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Cryga T A 1: 65,142,175 (GRCm39) S73C probably benign Het
Dennd4a A G 9: 64,758,580 (GRCm39) T240A probably damaging Het
Eml6 A G 11: 29,699,387 (GRCm39) S1789P probably damaging Het
Esr2 A T 12: 76,192,036 (GRCm39) W331R probably damaging Het
Fbh1 A T 2: 11,764,769 (GRCm39) L455H probably benign Het
Gm21698 T A 5: 26,192,391 (GRCm39) E65V probably damaging Het
Grm8 G T 6: 27,762,438 (GRCm39) F262L probably benign Het
Haus3 A T 5: 34,323,602 (GRCm39) L336* probably null Het
Hfm1 A C 5: 107,026,528 (GRCm39) probably null Het
Hgfac T C 5: 35,201,305 (GRCm39) probably benign Het
Ighv1-22 T C 12: 114,709,942 (GRCm39) E101G probably benign Het
Impg2 A G 16: 56,085,374 (GRCm39) E1027G probably damaging Het
Lypd5 A T 7: 24,052,993 (GRCm39) T217S possibly damaging Het
Myrf A G 19: 10,189,587 (GRCm39) probably benign Het
Mzf1 A G 7: 12,786,744 (GRCm39) W109R probably damaging Het
Ndufb4 A T 16: 37,469,532 (GRCm39) probably benign Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Oprk1 A G 1: 5,668,827 (GRCm39) K91R probably damaging Het
Or5m11b C T 2: 85,806,219 (GRCm39) L211F probably damaging Het
Ppp1r11 G A 17: 37,260,781 (GRCm39) R61C probably damaging Het
Racgap1 T C 15: 99,521,515 (GRCm39) D547G probably benign Het
Sema4b A G 7: 79,874,736 (GRCm39) T709A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Supt5 T C 7: 28,025,592 (GRCm39) H218R probably benign Het
Tmem132c T A 5: 127,582,063 (GRCm39) I426N probably damaging Het
Tpcn1 T C 5: 120,677,097 (GRCm39) N696S probably damaging Het
Ttn T C 2: 76,566,506 (GRCm39) N26383S possibly damaging Het
Vax2 A G 6: 83,688,495 (GRCm39) T73A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Pdlim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Pdlim1 APN 19 40,231,910 (GRCm39) missense probably benign 0.00
IGL02253:Pdlim1 APN 19 40,218,974 (GRCm39) missense probably damaging 0.99
IGL02312:Pdlim1 APN 19 40,211,505 (GRCm39) missense probably benign 0.00
R0391:Pdlim1 UTSW 19 40,232,017 (GRCm39) missense probably damaging 0.99
R1554:Pdlim1 UTSW 19 40,211,516 (GRCm39) missense probably benign 0.19
R1751:Pdlim1 UTSW 19 40,240,348 (GRCm39) splice site probably benign
R1972:Pdlim1 UTSW 19 40,211,581 (GRCm39) missense probably damaging 0.99
R2900:Pdlim1 UTSW 19 40,211,519 (GRCm39) missense probably damaging 1.00
R4709:Pdlim1 UTSW 19 40,211,180 (GRCm39) missense probably benign 0.26
R4803:Pdlim1 UTSW 19 40,231,892 (GRCm39) missense possibly damaging 0.94
R4818:Pdlim1 UTSW 19 40,211,580 (GRCm39) missense probably damaging 0.98
R5360:Pdlim1 UTSW 19 40,218,993 (GRCm39) missense probably damaging 0.99
R5833:Pdlim1 UTSW 19 40,218,989 (GRCm39) missense probably damaging 1.00
R6547:Pdlim1 UTSW 19 40,211,564 (GRCm39) missense probably damaging 0.97
R7699:Pdlim1 UTSW 19 40,238,102 (GRCm39) missense probably damaging 0.99
R7700:Pdlim1 UTSW 19 40,238,102 (GRCm39) missense probably damaging 0.99
R7756:Pdlim1 UTSW 19 40,231,986 (GRCm39) missense probably benign 0.00
R7758:Pdlim1 UTSW 19 40,231,986 (GRCm39) missense probably benign 0.00
R7914:Pdlim1 UTSW 19 40,240,445 (GRCm39) missense probably damaging 0.98
R8201:Pdlim1 UTSW 19 40,218,958 (GRCm39) missense probably benign
R8331:Pdlim1 UTSW 19 40,218,995 (GRCm39) missense possibly damaging 0.70
R9698:Pdlim1 UTSW 19 40,218,959 (GRCm39) missense probably benign 0.01
R9733:Pdlim1 UTSW 19 40,219,040 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16