Incidental Mutation 'IGL02749:Pdzph1'
ID 306197
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 # IGL02749
Quality Score
Status
Chromosome 17
Chromosomal Location 59185803-59298344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59239478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 950 (L950Q)
Ref Sequence ENSEMBL: ENSMUSP00000025064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064]
AlphaFold Q8BGR1
Predicted Effect possibly damaging
Transcript: ENSMUST00000025064
AA Change: L950Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: L950Q

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik T C 12: 112,963,795 (GRCm39) D61G probably benign Het
Albfm1 T C 5: 90,719,624 (GRCm39) V240A possibly damaging Het
Ascc2 G A 11: 4,590,481 (GRCm39) probably null Het
Atrn C T 2: 130,812,064 (GRCm39) Q670* probably null Het
Atrn G T 2: 130,789,654 (GRCm39) probably benign Het
Calr A C 8: 85,571,117 (GRCm39) W236G probably damaging Het
Camk2g T A 14: 20,816,084 (GRCm39) probably null Het
Cd101 G T 3: 100,927,715 (GRCm39) T122K probably damaging Het
Cert1 T A 13: 96,765,643 (GRCm39) N469K possibly damaging Het
Cryl1 T C 14: 57,541,181 (GRCm39) T168A probably benign Het
Diaph3 A G 14: 87,156,261 (GRCm39) I684T probably damaging Het
Ednrb A T 14: 104,060,495 (GRCm39) M266K possibly damaging Het
Eif4h T C 5: 134,668,146 (GRCm39) D3G probably damaging Het
Eny2 C T 15: 44,293,031 (GRCm39) R28C possibly damaging Het
Epsti1 A G 14: 78,177,363 (GRCm39) E181G probably damaging Het
Ezh2 A G 6: 47,510,698 (GRCm39) F598S probably damaging Het
Fat3 G T 9: 15,918,007 (GRCm39) T1472K possibly damaging Het
Gabra4 T A 5: 71,795,490 (GRCm39) I262F probably benign Het
Gpat4 A T 8: 23,670,886 (GRCm39) Y109N probably damaging Het
Gpsm1 C T 2: 26,229,687 (GRCm39) T36I probably damaging Het
Hikeshi C T 7: 89,585,097 (GRCm39) V36I possibly damaging Het
Hip1 T C 5: 135,473,605 (GRCm39) M238V probably benign Het
Hnrnpll A T 17: 80,369,420 (GRCm39) M1K probably null Het
Irx2 G A 13: 72,779,429 (GRCm39) D238N probably damaging Het
Kcnip4 T A 5: 48,567,127 (GRCm39) probably benign Het
Lair1 G A 7: 4,031,900 (GRCm39) T69I possibly damaging Het
Lamc1 A G 1: 153,125,599 (GRCm39) I558T possibly damaging Het
Map4k5 C T 12: 69,862,580 (GRCm39) E639K probably benign Het
Mc4r A G 18: 66,992,733 (GRCm39) S127P probably damaging Het
Mmp23 A G 4: 155,735,989 (GRCm39) M221T possibly damaging Het
Mre11a T C 9: 14,737,887 (GRCm39) S587P possibly damaging Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Nek9 C A 12: 85,352,281 (GRCm39) A861S probably benign Het
Nup155 T A 15: 8,163,560 (GRCm39) Y576N probably damaging Het
Or5w10 C T 2: 87,375,001 (GRCm39) V296M probably damaging Het
Pcca A T 14: 122,771,800 (GRCm39) T8S probably benign Het
Pcdh15 A G 10: 74,466,900 (GRCm39) D1573G probably benign Het
Pdpr T A 8: 111,844,722 (GRCm39) V373E probably benign Het
Pira13 A G 7: 3,825,624 (GRCm39) I415T probably damaging Het
Prss35 A C 9: 86,638,297 (GRCm39) K356Q probably damaging Het
Psg22 A T 7: 18,456,944 (GRCm39) T237S possibly damaging Het
Rdh13 A G 7: 4,430,703 (GRCm39) Y252H probably damaging Het
Sema3d T C 5: 12,613,112 (GRCm39) probably benign Het
Slc35b2 G A 17: 45,877,493 (GRCm39) V207I probably benign Het
Sparcl1 T G 5: 104,240,746 (GRCm39) E226A possibly damaging Het
Srms C A 2: 180,851,302 (GRCm39) A155S possibly damaging Het
Tas2r107 A T 6: 131,636,917 (GRCm39) I44N probably damaging Het
Tmem236 C T 2: 14,224,132 (GRCm39) T307M probably damaging Het
Ush2a C T 1: 188,679,155 (GRCm39) P4788S probably damaging Het
Vmn1r170 A T 7: 23,305,716 (GRCm39) L39F probably benign Het
Vmn2r90 T A 17: 17,947,122 (GRCm39) *121R probably null 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
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