Incidental Mutation 'IGL02201:Pdzph1'
ID 284213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzph1
Ensembl Gene ENSMUSG00000024227
Gene Name PDZ and pleckstrin homology domains 1
Synonyms 2610034M16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02201
Quality Score
Status
Chromosome 17
Chromosomal Location 59185803-59298344 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 59274506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064]
AlphaFold Q8BGR1
Predicted Effect probably benign
Transcript: ENSMUST00000025064
SMART Domains Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227

DomainStartEndE-ValueType
Blast:PDZ 780 844 6e-20 BLAST
PDZ 915 984 3.31e-15 SMART
PH 993 1096 9.4e-19 SMART
PH 1120 1218 2.83e-13 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 G A 1: 78,676,870 (GRCm39) G484R probably damaging Het
Adgrb3 A G 1: 25,459,631 (GRCm39) probably benign Het
Akr1c14 A G 13: 4,131,022 (GRCm39) D238G probably damaging Het
Ccdc88b T A 19: 6,823,999 (GRCm39) D1418V probably damaging Het
Cnnm4 A T 1: 36,511,831 (GRCm39) K353M probably damaging Het
Col6a6 A G 9: 105,658,194 (GRCm39) F673L probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dyrk1a A G 16: 94,493,008 (GRCm39) E747G probably benign Het
Eml5 T A 12: 98,760,683 (GRCm39) probably benign Het
Ercc6l2 A G 13: 64,000,783 (GRCm39) N516D probably benign Het
Fbxl17 A G 17: 63,806,024 (GRCm39) L330P probably damaging Het
Fgr A T 4: 132,722,235 (GRCm39) Y168F probably damaging Het
Frem2 T G 3: 53,427,061 (GRCm39) K2962N probably benign Het
Hdac4 G T 1: 91,915,382 (GRCm39) probably null Het
Il1r1 A T 1: 40,352,428 (GRCm39) N533Y probably damaging Het
Kcnab2 T C 4: 152,486,375 (GRCm39) probably benign Het
Knl1 C T 2: 118,899,633 (GRCm39) P445S probably benign Het
Lamb2 G A 9: 108,364,741 (GRCm39) C1165Y probably damaging Het
Nisch C T 14: 30,909,051 (GRCm39) probably benign Het
Or1i2 C T 10: 78,448,104 (GRCm39) V124M probably damaging Het
Or2m12 A T 16: 19,105,212 (GRCm39) S94T probably benign Het
Or8b40 A G 9: 38,027,893 (GRCm39) D267G probably benign Het
Or8h7 A G 2: 86,721,420 (GRCm39) L33P probably damaging Het
Pde3b T A 7: 114,133,843 (GRCm39) M953K probably damaging Het
Plce1 T C 19: 38,757,890 (GRCm39) probably benign Het
Prr23a3 G T 9: 98,747,297 (GRCm39) V84L possibly damaging Het
Psg26 A G 7: 18,214,071 (GRCm39) V197A probably benign Het
Ptpra T A 2: 30,336,389 (GRCm39) C80S possibly damaging Het
Ripk4 A T 16: 97,556,377 (GRCm39) V122E possibly damaging Het
Scd2 A G 19: 44,289,779 (GRCm39) N258S probably damaging Het
Slc38a1 A T 15: 96,476,679 (GRCm39) V394E probably damaging Het
Slc7a15 A G 12: 8,589,023 (GRCm39) S175P possibly damaging Het
Tacc2 T A 7: 130,227,942 (GRCm39) D1542E possibly damaging Het
Trim67 G T 8: 125,520,797 (GRCm39) R53L probably benign Het
Urah A T 7: 140,415,576 (GRCm39) T38S probably damaging Het
Vps13c A G 9: 67,874,418 (GRCm39) S3362G probably damaging Het
Wwc1 T C 11: 35,734,978 (GRCm39) probably benign Het
Zfyve28 T C 5: 34,400,549 (GRCm39) T50A probably damaging Het
Other mutations in Pdzph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Pdzph1 APN 17 59,281,791 (GRCm39) missense possibly damaging 0.46
IGL00644:Pdzph1 APN 17 59,195,105 (GRCm39) missense probably benign
IGL01413:Pdzph1 APN 17 59,186,147 (GRCm39) missense possibly damaging 0.82
IGL01530:Pdzph1 APN 17 59,229,710 (GRCm39) missense probably damaging 1.00
IGL02089:Pdzph1 APN 17 59,274,334 (GRCm39) missense possibly damaging 0.92
IGL02548:Pdzph1 APN 17 59,280,386 (GRCm39) missense probably benign 0.10
IGL02618:Pdzph1 APN 17 59,186,068 (GRCm39) utr 3 prime probably benign
IGL02660:Pdzph1 APN 17 59,187,642 (GRCm39) missense probably damaging 0.97
IGL02749:Pdzph1 APN 17 59,239,478 (GRCm39) missense possibly damaging 0.95
IGL02876:Pdzph1 APN 17 59,281,064 (GRCm39) missense probably benign
IGL03304:Pdzph1 APN 17 59,187,641 (GRCm39) missense probably damaging 1.00
IGL03336:Pdzph1 APN 17 59,281,229 (GRCm39) missense probably benign 0.00
R0008:Pdzph1 UTSW 17 59,229,756 (GRCm39) splice site probably benign
R0008:Pdzph1 UTSW 17 59,229,756 (GRCm39) splice site probably benign
R0498:Pdzph1 UTSW 17 59,280,825 (GRCm39) missense probably benign 0.00
R0553:Pdzph1 UTSW 17 59,229,722 (GRCm39) missense probably damaging 1.00
R0594:Pdzph1 UTSW 17 59,261,474 (GRCm39) missense possibly damaging 0.76
R1306:Pdzph1 UTSW 17 59,239,427 (GRCm39) missense possibly damaging 0.90
R1370:Pdzph1 UTSW 17 59,281,082 (GRCm39) missense possibly damaging 0.73
R1382:Pdzph1 UTSW 17 59,281,742 (GRCm39) missense probably benign 0.10
R1463:Pdzph1 UTSW 17 59,239,440 (GRCm39) missense probably damaging 1.00
R1766:Pdzph1 UTSW 17 59,280,747 (GRCm39) missense probably benign 0.16
R1773:Pdzph1 UTSW 17 59,281,808 (GRCm39) missense probably damaging 0.98
R1862:Pdzph1 UTSW 17 59,229,578 (GRCm39) missense probably damaging 1.00
R2070:Pdzph1 UTSW 17 59,281,092 (GRCm39) missense probably benign 0.04
R2071:Pdzph1 UTSW 17 59,281,092 (GRCm39) missense probably benign 0.04
R2229:Pdzph1 UTSW 17 59,239,407 (GRCm39) splice site probably benign
R2264:Pdzph1 UTSW 17 59,195,162 (GRCm39) critical splice acceptor site probably null
R2334:Pdzph1 UTSW 17 59,229,644 (GRCm39) missense probably damaging 1.00
R3750:Pdzph1 UTSW 17 59,280,331 (GRCm39) nonsense probably null
R4700:Pdzph1 UTSW 17 59,281,541 (GRCm39) missense probably damaging 0.98
R4847:Pdzph1 UTSW 17 59,280,525 (GRCm39) missense possibly damaging 0.95
R4868:Pdzph1 UTSW 17 59,281,751 (GRCm39) missense probably benign 0.00
R5130:Pdzph1 UTSW 17 59,229,604 (GRCm39) missense probably damaging 1.00
R5329:Pdzph1 UTSW 17 59,281,875 (GRCm39) missense probably damaging 1.00
R5574:Pdzph1 UTSW 17 59,280,942 (GRCm39) missense probably benign 0.00
R5770:Pdzph1 UTSW 17 59,186,146 (GRCm39) missense probably damaging 1.00
R5795:Pdzph1 UTSW 17 59,192,862 (GRCm39) missense possibly damaging 0.47
R5842:Pdzph1 UTSW 17 59,281,407 (GRCm39) missense possibly damaging 0.64
R5851:Pdzph1 UTSW 17 59,280,741 (GRCm39) missense probably benign 0.02
R6158:Pdzph1 UTSW 17 59,280,622 (GRCm39) missense probably damaging 0.96
R6813:Pdzph1 UTSW 17 59,281,431 (GRCm39) missense probably benign 0.08
R7022:Pdzph1 UTSW 17 59,281,121 (GRCm39) missense probably benign 0.02
R7395:Pdzph1 UTSW 17 59,186,154 (GRCm39) missense possibly damaging 0.85
R7525:Pdzph1 UTSW 17 59,274,336 (GRCm39) missense possibly damaging 0.73
R7944:Pdzph1 UTSW 17 59,239,455 (GRCm39) missense probably damaging 1.00
R7945:Pdzph1 UTSW 17 59,239,455 (GRCm39) missense probably damaging 1.00
R7992:Pdzph1 UTSW 17 59,186,105 (GRCm39) missense possibly damaging 0.71
R8016:Pdzph1 UTSW 17 59,239,476 (GRCm39) missense probably damaging 0.98
R8116:Pdzph1 UTSW 17 59,282,138 (GRCm39) missense probably benign 0.01
R8273:Pdzph1 UTSW 17 59,280,009 (GRCm39) missense probably benign 0.00
R8523:Pdzph1 UTSW 17 59,191,008 (GRCm39) missense probably damaging 1.00
R8819:Pdzph1 UTSW 17 59,187,715 (GRCm39) nonsense probably null
R8820:Pdzph1 UTSW 17 59,187,715 (GRCm39) nonsense probably null
R8839:Pdzph1 UTSW 17 59,257,237 (GRCm39) missense probably benign 0.02
R8871:Pdzph1 UTSW 17 59,195,033 (GRCm39) missense probably damaging 1.00
R8898:Pdzph1 UTSW 17 59,281,334 (GRCm39) missense probably benign 0.00
R8959:Pdzph1 UTSW 17 59,281,599 (GRCm39) missense probably damaging 0.97
R9043:Pdzph1 UTSW 17 59,280,535 (GRCm39) missense probably benign 0.05
R9083:Pdzph1 UTSW 17 59,261,395 (GRCm39) missense possibly damaging 0.94
R9092:Pdzph1 UTSW 17 59,280,125 (GRCm39) missense probably damaging 1.00
R9682:Pdzph1 UTSW 17 59,257,262 (GRCm39) missense probably damaging 1.00
R9757:Pdzph1 UTSW 17 59,281,898 (GRCm39) nonsense probably null
R9774:Pdzph1 UTSW 17 59,281,751 (GRCm39) missense probably benign 0.00
X0028:Pdzph1 UTSW 17 59,186,116 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16