Incidental Mutation 'IGL01377:Pdlim4'
ID 78762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdlim4
Ensembl Gene ENSMUSG00000020388
Gene Name PDZ and LIM domain 4
Synonyms Ril
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL01377
Quality Score
Status
Chromosome 11
Chromosomal Location 53945754-53959840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53947130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 56 (S56R)
Ref Sequence ENSEMBL: ENSMUSP00000121248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018755] [ENSMUST00000093109] [ENSMUST00000144477]
AlphaFold P70271
Predicted Effect probably benign
Transcript: ENSMUST00000018755
AA Change: S115R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000018755
Gene: ENSMUSG00000020388
AA Change: S115R

DomainStartEndE-ValueType
PDZ 11 84 1.05e-17 SMART
Pfam:DUF4749 142 230 7.2e-14 PFAM
LIM 254 305 9.75e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093109
AA Change: S115R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000090797
Gene: ENSMUSG00000020388
AA Change: S115R

DomainStartEndE-ValueType
PDZ 11 84 1.05e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127271
Predicted Effect probably benign
Transcript: ENSMUST00000144477
AA Change: S56R

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121248
Gene: ENSMUSG00000020388
AA Change: S56R

DomainStartEndE-ValueType
Blast:PDZ 1 25 2e-10 BLAST
SCOP:d1qava_ 1 25 3e-4 SMART
PDB:2V1W|B 1 28 2e-11 PDB
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 protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,460,108 (GRCm39) V196D probably damaging Het
Ago1 C T 4: 126,353,610 (GRCm39) V279M probably damaging Het
Bltp1 T C 3: 37,027,601 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,966 (GRCm39) D675G probably damaging Het
Cdc42bpa T A 1: 179,892,708 (GRCm39) Y291N probably damaging Het
Cdca5 T C 19: 6,140,312 (GRCm39) S158P probably damaging Het
Cdh8 A G 8: 99,760,021 (GRCm39) I576T probably damaging Het
Cpsf2 T A 12: 101,953,640 (GRCm39) probably null Het
Cyc1 C T 15: 76,229,162 (GRCm39) R143* probably null Het
Dcaf6 A T 1: 165,216,293 (GRCm39) S437T probably benign Het
Eif5b A G 1: 38,075,179 (GRCm39) D552G probably benign Het
Epor T C 9: 21,870,593 (GRCm39) D429G probably damaging Het
Farp2 A G 1: 93,531,181 (GRCm39) I560V possibly damaging Het
Fbxw21 T A 9: 108,975,713 (GRCm39) R228* probably null Het
Fyb1 T C 15: 6,609,801 (GRCm39) S125P probably benign Het
Gfm1 A T 3: 67,382,086 (GRCm39) Y720F probably damaging Het
Hspbap1 T A 16: 35,645,681 (GRCm39) D455E possibly damaging Het
Katnal2 T C 18: 77,090,153 (GRCm39) R285G probably damaging Het
Kif12 G A 4: 63,088,962 (GRCm39) T153I probably damaging Het
Klhl31 T C 9: 77,558,013 (GRCm39) F243S probably benign Het
Large2 A G 2: 92,199,676 (GRCm39) Y208H probably damaging Het
Lrp1b A G 2: 40,491,550 (GRCm39) V239A probably damaging Het
Mblac2 G A 13: 81,898,266 (GRCm39) R214H probably damaging Het
Mlf2 A G 6: 124,911,654 (GRCm39) N168D probably damaging Het
Mtmr6 T A 14: 60,519,483 (GRCm39) Y134* probably null Het
Mtus1 T C 8: 41,536,172 (GRCm39) K515E possibly damaging Het
Nek1 A G 8: 61,542,490 (GRCm39) T718A probably benign Het
Nfx1 A G 4: 40,977,241 (GRCm39) N305S probably benign Het
Nrxn3 T A 12: 89,499,782 (GRCm39) probably null Het
Nsf T C 11: 103,763,473 (GRCm39) D377G probably damaging Het
Pde4b A G 4: 102,344,599 (GRCm39) E102G probably damaging Het
Poc5 T C 13: 96,538,139 (GRCm39) V268A probably benign Het
Sec23b A C 2: 144,401,157 (GRCm39) E6A probably damaging Het
Sgsm1 A T 5: 113,424,048 (GRCm39) probably benign Het
Slc16a12 T A 19: 34,650,084 (GRCm39) N317I possibly damaging Het
Slc1a7 A T 4: 107,850,162 (GRCm39) D91V probably damaging Het
Slc30a9 T G 5: 67,473,173 (GRCm39) S86A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,636 (GRCm39) S16P probably benign Het
Tmtc1 A C 6: 148,147,285 (GRCm39) V804G possibly damaging Het
Ttc7b A G 12: 100,321,371 (GRCm39) F587L probably benign Het
Vmn2r86 A T 10: 130,288,855 (GRCm39) D215E probably damaging Het
Other mutations in Pdlim4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02005:Pdlim4 APN 11 53,950,810 (GRCm39) missense probably benign 0.10
IGL02305:Pdlim4 APN 11 53,946,759 (GRCm39) missense probably damaging 1.00
IGL03073:Pdlim4 APN 11 53,954,467 (GRCm39) missense probably damaging 1.00
BB001:Pdlim4 UTSW 11 53,946,048 (GRCm39) nonsense probably null
BB011:Pdlim4 UTSW 11 53,946,048 (GRCm39) nonsense probably null
R0008:Pdlim4 UTSW 11 53,945,875 (GRCm39) missense probably damaging 1.00
R0612:Pdlim4 UTSW 11 53,959,713 (GRCm39) missense probably damaging 1.00
R1646:Pdlim4 UTSW 11 53,947,080 (GRCm39) missense possibly damaging 0.94
R1754:Pdlim4 UTSW 11 53,946,699 (GRCm39) missense possibly damaging 0.82
R2132:Pdlim4 UTSW 11 53,954,563 (GRCm39) missense possibly damaging 0.70
R3037:Pdlim4 UTSW 11 53,947,083 (GRCm39) missense probably benign 0.15
R4210:Pdlim4 UTSW 11 53,946,744 (GRCm39) missense possibly damaging 0.70
R5787:Pdlim4 UTSW 11 53,946,042 (GRCm39) missense probably damaging 1.00
R5969:Pdlim4 UTSW 11 53,954,482 (GRCm39) missense possibly damaging 0.50
R6862:Pdlim4 UTSW 11 53,946,674 (GRCm39) missense probably damaging 1.00
R7924:Pdlim4 UTSW 11 53,946,048 (GRCm39) nonsense probably null
R8927:Pdlim4 UTSW 11 53,950,790 (GRCm39) missense probably benign 0.01
R8928:Pdlim4 UTSW 11 53,950,790 (GRCm39) missense probably benign 0.01
R9023:Pdlim4 UTSW 11 53,959,662 (GRCm39) unclassified probably benign
R9026:Pdlim4 UTSW 11 53,946,280 (GRCm39) missense probably benign 0.00
Posted On 2013-11-05