Incidental Mutation 'IGL02312:Pdlim1'
ID287834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdlim1
Ensembl Gene ENSMUSG00000055044
Gene NamePDZ and LIM domain 1 (elfin)
SynonymsCLP36, mClim1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02312
Quality Score
Status
Chromosome19
Chromosomal Location40221173-40271842 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40223061 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 263 (T263A)
Ref Sequence ENSEMBL: ENSMUSP00000064545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068439]
Predicted Effect probably benign
Transcript: ENSMUST00000068439
AA Change: T263A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
AA Change: T263A

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 noncoding transcript
Transcript: ENSMUST00000182540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182813
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,927,297 V454E probably damaging Het
Atp7b G T 8: 21,994,770 Q1424K probably damaging Het
Bicra T C 7: 15,993,141 D30G possibly damaging Het
Cdhr2 A G 13: 54,717,888 D233G probably null Het
Clint1 C T 11: 45,894,056 T294M probably damaging Het
Cntnap5c C T 17: 58,138,699 T578I probably benign Het
Col12a1 G T 9: 79,681,515 T1106N probably damaging Het
Dnah10 A G 5: 124,819,366 Y3598C probably damaging Het
Dnaja3 A G 16: 4,694,436 T235A probably benign Het
Eif2s1 T C 12: 78,880,016 I180T probably damaging Het
Ergic1 C A 17: 26,629,627 P108Q probably damaging Het
Fat2 T A 11: 55,270,259 D3215V probably damaging Het
Galnt17 A T 5: 131,306,533 I23N probably benign Het
Gm5416 A G 16: 36,210,477 probably benign Het
Gm8909 T C 17: 36,165,407 I350V probably benign Het
Gpr20 C T 15: 73,696,426 R38Q probably benign Het
Grin2b T C 6: 135,739,090 D743G probably damaging Het
Hmbs A G 9: 44,341,213 probably null Het
Hunk T C 16: 90,475,941 Y302H probably damaging Het
Mybph A T 1: 134,197,450 I239F probably damaging Het
Ncoa3 G A 2: 166,057,200 A821T probably benign Het
Nf1 A G 11: 79,444,648 I979V possibly damaging Het
Olfr1137 T C 2: 87,711,009 E299G probably benign Het
Olfr871 A T 9: 20,213,081 H244L probably damaging Het
Papd4 C T 13: 93,175,533 V220I probably benign Het
Pdilt G A 7: 119,519,667 T53M probably benign Het
Pik3cg A T 12: 32,194,821 M878K possibly damaging Het
Plod1 T C 4: 147,926,157 K279R probably benign Het
Plxna4 T C 6: 32,165,117 T1602A possibly damaging Het
Rb1cc1 T A 1: 6,265,623 probably null Het
Rnls G A 19: 33,168,383 T112I probably benign Het
Ropn1 G A 16: 34,677,277 V180I probably benign Het
Rptor T C 11: 119,846,915 Y605H possibly damaging Het
Sidt2 T C 9: 45,947,001 Y80C probably benign Het
Slit1 A T 19: 41,601,680 V1389E possibly damaging Het
Spz1 G A 13: 92,575,885 P28S probably benign Het
Sult1c1 T A 17: 53,962,430 M257L probably benign Het
Tm2d3 T C 7: 65,699,169 probably null Het
Uqcr10 T C 11: 4,704,153 probably null Het
Other mutations in Pdlim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Pdlim1 APN 19 40243466 missense probably benign 0.00
IGL02253:Pdlim1 APN 19 40230530 missense probably damaging 0.99
IGL02584:Pdlim1 APN 19 40243400 splice site probably null
R0391:Pdlim1 UTSW 19 40243573 missense probably damaging 0.99
R1554:Pdlim1 UTSW 19 40223072 missense probably benign 0.19
R1751:Pdlim1 UTSW 19 40251904 splice site probably benign
R1972:Pdlim1 UTSW 19 40223137 missense probably damaging 0.99
R2900:Pdlim1 UTSW 19 40223075 missense probably damaging 1.00
R4709:Pdlim1 UTSW 19 40222736 missense probably benign 0.26
R4803:Pdlim1 UTSW 19 40243448 missense possibly damaging 0.94
R4818:Pdlim1 UTSW 19 40223136 missense probably damaging 0.98
R5360:Pdlim1 UTSW 19 40230549 missense probably damaging 0.99
R5833:Pdlim1 UTSW 19 40230545 missense probably damaging 1.00
R6547:Pdlim1 UTSW 19 40223120 missense probably damaging 0.97
R7699:Pdlim1 UTSW 19 40249658 missense probably damaging 0.99
R7700:Pdlim1 UTSW 19 40249658 missense probably damaging 0.99
R7756:Pdlim1 UTSW 19 40243542 missense probably benign 0.00
R7758:Pdlim1 UTSW 19 40243542 missense probably benign 0.00
R7914:Pdlim1 UTSW 19 40252001 missense probably damaging 0.98
R8201:Pdlim1 UTSW 19 40230514 missense probably benign
R8331:Pdlim1 UTSW 19 40230551 missense possibly damaging 0.70
Posted On2015-04-16