Incidental Mutation 'IGL02253:Pdlim1'
ID 286509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdlim1
Ensembl Gene ENSMUSG00000055044
Gene Name PDZ and LIM domain 1 (elfin)
Synonyms CLP36, mClim1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02253
Quality Score
Status
Chromosome 19
Chromosomal Location 40221173-40271842 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40230530 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 219 (E219G)
Ref Sequence ENSEMBL: ENSMUSP00000064545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068439] [ENSMUST00000182432]
AlphaFold O70400
Predicted Effect probably damaging
Transcript: ENSMUST00000068439
AA Change: E219G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
AA Change: E219G

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
SMART Domains Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044

DomainStartEndE-ValueType
PDZ 12 85 3.23e-18 SMART
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,207,959 E76G probably benign Het
Adamtsl2 A T 2: 27,098,697 T587S possibly damaging Het
Adgre4 T A 17: 55,760,573 M9K probably benign Het
Aff2 T A X: 69,830,791 V447E probably benign Het
Arhgef10l G T 4: 140,544,284 S425* probably null Het
Cabcoco1 T C 10: 68,436,277 probably null Het
Calcr T A 6: 3,707,523 H259L probably benign Het
Cdc42bpa T A 1: 180,031,596 probably benign Het
Cntnap5b C T 1: 100,164,211 H540Y possibly damaging Het
Cyp2a22 A T 7: 26,938,237 probably benign Het
Ddx3x T C X: 13,284,968 probably benign Het
Dnajc11 T A 4: 151,950,519 Y28* probably null Het
Dock11 T C X: 36,041,128 F1472S probably damaging Het
Dusp18 T C 11: 3,897,576 *189Q probably null Het
Dzip3 A T 16: 48,944,924 Y476N probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Evc2 T A 5: 37,378,427 probably benign Het
Fam151b A T 13: 92,477,927 Y18N probably damaging Het
Gk5 T C 9: 96,137,771 F120S probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Kcna3 T C 3: 107,037,411 L330P probably damaging Het
Kctd20 A G 17: 28,961,486 N7S probably benign Het
Kmt2b G T 7: 30,581,727 R1276S probably damaging Het
Kmt2d C T 15: 98,858,175 probably benign Het
L2hgdh G A 12: 69,705,760 probably benign Het
Lifr T G 15: 7,190,604 V905G probably damaging Het
Mcm3ap T A 10: 76,470,065 V4E probably benign Het
Nrip3 A C 7: 109,761,744 probably null Het
Nsun2 T G 13: 69,619,539 V204G possibly damaging Het
Nup54 A G 5: 92,417,451 probably null Het
Olfr494 T A 7: 108,368,054 V188E possibly damaging Het
Olfr894 T A 9: 38,219,735 M304K probably benign Het
Pdcl3 A G 1: 38,994,930 D51G probably benign Het
Pld4 A C 12: 112,766,707 K239T probably damaging Het
Rgsl1 T C 1: 153,793,767 Y291C probably damaging Het
Rnf213 C A 11: 119,440,650 H2228Q probably benign Het
Rnf222 T A 11: 68,893,036 I143N probably damaging Het
Sirt7 A G 11: 120,620,867 I13T probably benign Het
Slfn10-ps A G 11: 83,029,064 noncoding transcript Het
Slx4ip T C 2: 137,000,275 probably null Het
Spata18 G T 5: 73,668,596 S164I possibly damaging Het
Ssfa2 A G 2: 79,660,444 T969A probably damaging Het
Stk26 T C X: 50,886,688 L212P probably damaging Het
Tmsb15a T C X: 135,719,702 I56V probably benign Het
Tnrc6b T A 15: 80,876,541 S150T probably damaging Het
Tubb3 T C 8: 123,420,820 M164T probably benign Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zyg11a A C 4: 108,183,695 V685G probably null Het
Other mutations in Pdlim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Pdlim1 APN 19 40243466 missense probably benign 0.00
IGL02312:Pdlim1 APN 19 40223061 missense probably benign 0.00
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 On 2015-04-16