Incidental Mutation 'IGL02027:Pdlim1'
ID 184220
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 # IGL02027
Quality Score
Status
Chromosome 19
Chromosomal Location 40210683-40260060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40231910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 156 (N156S)
Ref Sequence ENSEMBL: ENSMUSP00000138383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068439] [ENSMUST00000182432]
AlphaFold O70400
Predicted Effect probably benign
Transcript: ENSMUST00000068439
AA Change: N156S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
AA Change: N156S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000182432
AA Change: N156S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044
AA Change: N156S

DomainStartEndE-ValueType
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,358,923 (GRCm39) T312A probably benign Het
Begain T G 12: 109,000,235 (GRCm39) K384Q possibly damaging Het
C2cd6 T C 1: 59,099,763 (GRCm39) I393V probably benign Het
Catsperz A G 19: 6,902,664 (GRCm39) V5A probably benign Het
Cbx1 T A 11: 96,692,315 (GRCm39) F67L probably damaging Het
Ccn2 A G 10: 24,472,307 (GRCm39) S117G probably damaging Het
Ccn3 T C 15: 54,611,330 (GRCm39) V155A probably damaging Het
Cerkl T C 2: 79,171,630 (GRCm39) probably benign Het
Cubn G T 2: 13,292,405 (GRCm39) D3259E probably damaging Het
Cyp2u1 A G 3: 131,091,600 (GRCm39) Y307H probably damaging Het
Dcaf6 A C 1: 165,251,910 (GRCm39) D71E probably damaging Het
Dclk3 A T 9: 111,296,911 (GRCm39) K152* probably null Het
Fcgbp G A 7: 27,774,629 (GRCm39) D68N probably damaging Het
Gm6576 A G 15: 27,025,952 (GRCm39) noncoding transcript Het
Has2 T C 15: 56,531,567 (GRCm39) T383A probably damaging Het
Htr1f T A 16: 64,746,684 (GRCm39) K203* probably null Het
Il36g A T 2: 24,082,797 (GRCm39) I191L probably benign Het
Iqgap3 T C 3: 87,994,649 (GRCm39) I116T possibly damaging Het
Itga1 C T 13: 115,126,591 (GRCm39) probably null Het
Kif5b T C 18: 6,209,089 (GRCm39) D891G possibly damaging Het
Krt74 T C 15: 101,665,229 (GRCm39) noncoding transcript Het
Lama3 A G 18: 12,649,570 (GRCm39) K1776E probably damaging Het
Lats1 T C 10: 7,588,712 (GRCm39) S1110P probably benign Het
Lipo3 T A 19: 33,557,919 (GRCm39) K158* probably null Het
Lrrc9 T A 12: 72,517,108 (GRCm39) probably benign Het
Met A G 6: 17,563,726 (GRCm39) probably benign Het
Mmp13 A G 9: 7,272,955 (GRCm39) Y105C probably damaging Het
Mtus1 T C 8: 41,446,638 (GRCm39) E1151G probably damaging Het
Nptx1 T C 11: 119,435,422 (GRCm39) D298G possibly damaging Het
Odad4 C T 11: 100,460,728 (GRCm39) T495M probably damaging Het
Pdzk1 A G 3: 96,761,989 (GRCm39) probably benign Het
Pex5 A G 6: 124,375,847 (GRCm39) S448P probably benign Het
Polr3e G T 7: 120,530,186 (GRCm39) R124L probably damaging Het
Ppp2r2c C T 5: 37,109,816 (GRCm39) R392C probably damaging Het
Prpf4b T C 13: 35,073,554 (GRCm39) I543T probably benign Het
Prr27 A G 5: 87,991,302 (GRCm39) S305G possibly damaging Het
Repin1 A G 6: 48,573,407 (GRCm39) H56R probably damaging Het
Ryr2 A T 13: 11,611,998 (GRCm39) L408H probably damaging Het
Sbf2 T A 7: 110,060,348 (GRCm39) Q205H probably damaging Het
Sgo2b G A 8: 64,379,863 (GRCm39) P990S probably benign Het
Slc33a1 G T 3: 63,855,562 (GRCm39) P361Q probably damaging Het
Tmem98 T C 11: 80,706,483 (GRCm39) probably benign Het
Vmn1r16 T C 6: 57,300,044 (GRCm39) T193A possibly damaging Het
Vmn1r5 T A 6: 56,962,640 (GRCm39) I105K probably damaging Het
Zfp473 A T 7: 44,387,462 (GRCm39) probably benign Het
Other mutations in Pdlim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02584:Pdlim1 APN 19 40,231,844 (GRCm39) splice site probably null
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 2014-05-07