Incidental Mutation 'IGL02876:Pdzph1'
ID 406247
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 # IGL02876
Quality Score
Status
Chromosome 17
Chromosomal Location 59185803-59298344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59281064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 406 (S406I)
Ref Sequence ENSEMBL: ENSMUSP00000025064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064]
AlphaFold Q8BGR1
Predicted Effect probably benign
Transcript: ENSMUST00000025064
AA Change: S406I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: S406I

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,282,343 (GRCm39) Y150H probably damaging Het
Abcb5 A G 12: 118,883,576 (GRCm39) V564A probably damaging Het
Adamts15 A T 9: 30,815,818 (GRCm39) N679K probably damaging Het
Angpt1 T G 15: 42,290,373 (GRCm39) D497A possibly damaging Het
Asap2 A G 12: 21,308,164 (GRCm39) K849R probably benign Het
Aspm T C 1: 139,401,391 (GRCm39) V1137A probably damaging Het
Atp12a A G 14: 56,610,746 (GRCm39) I297V probably benign Het
Atp2a2 A G 5: 122,604,071 (GRCm39) V454A probably benign Het
Carmil1 T A 13: 24,338,651 (GRCm39) probably benign Het
Csmd2 A T 4: 128,215,128 (GRCm39) K517* probably null Het
Csmd3 A T 15: 47,469,492 (GRCm39) probably benign Het
Cyp2d11 T A 15: 82,273,697 (GRCm39) Q427L possibly damaging Het
Eml5 C T 12: 98,825,100 (GRCm39) V706M probably damaging Het
Entpd8 A C 2: 24,975,072 (GRCm39) S428R probably benign Het
Gm10283 T C 8: 60,954,253 (GRCm39) probably benign Het
Gpatch3 T A 4: 133,307,995 (GRCm39) V363E probably damaging Het
Hoxb5 T A 11: 96,194,594 (GRCm39) M52K probably damaging Het
Ift52 T C 2: 162,878,627 (GRCm39) V307A probably benign Het
Igkv1-115 T C 6: 68,138,424 (GRCm39) noncoding transcript Het
Kdm5a T C 6: 120,367,605 (GRCm39) probably benign Het
Lama1 T A 17: 68,057,687 (GRCm39) probably null Het
Lrp6 G A 6: 134,433,077 (GRCm39) P1418L probably benign Het
Mill2 T C 7: 18,590,432 (GRCm39) F156L probably damaging Het
Mnat1 A G 12: 73,217,378 (GRCm39) R85G probably damaging Het
Myrip A T 9: 120,261,740 (GRCm39) D451V probably damaging Het
Or1e1f A T 11: 73,855,539 (GRCm39) Y35F possibly damaging Het
Ptprb A G 10: 116,184,116 (GRCm39) probably benign Het
Rxfp4 T A 3: 88,559,742 (GRCm39) R236S possibly damaging Het
Ryr2 T C 13: 11,722,679 (GRCm39) M2604V probably benign Het
Setd1a G A 7: 127,377,673 (GRCm39) probably benign Het
Spata33 A T 8: 123,948,719 (GRCm39) H88L probably damaging Het
Spcs3 A T 8: 54,979,486 (GRCm39) N98K probably damaging Het
Srgap3 A G 6: 112,748,414 (GRCm39) S413P probably damaging Het
Stap2 T C 17: 56,306,961 (GRCm39) R239G probably benign Het
Surf6 A G 2: 26,782,638 (GRCm39) Y230H probably damaging Het
Tasp1 C T 2: 139,676,283 (GRCm39) V382M probably benign Het
Tnc G T 4: 63,933,338 (GRCm39) A642E possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r110 T A 17: 20,794,558 (GRCm39) T704S probably damaging Het
Vtcn1 A T 3: 100,791,145 (GRCm39) D61V probably damaging Het
Zc3h12d G A 10: 7,738,364 (GRCm39) M223I probably damaging Het
Zfp592 T A 7: 80,687,875 (GRCm39) S934T probably benign 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
IGL02201:Pdzph1 APN 17 59,274,506 (GRCm39) splice site probably benign
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
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 2016-08-02