Incidental Mutation 'IGL02660:Pdzph1'
ID302518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzph1
Ensembl Gene ENSMUSG00000024227
Gene NamePDZ and pleckstrin homology domains 1
Synonyms2610034M16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL02660
Quality Score
Status
Chromosome17
Chromosomal Location58878808-58991375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58880647 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 1193 (T1193S)
Ref Sequence ENSEMBL: ENSMUSP00000025064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064] [ENSMUST00000177360]
Predicted Effect probably damaging
Transcript: ENSMUST00000025064
AA Change: T1193S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T1193S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177108
Predicted Effect probably benign
Transcript: ENSMUST00000177360
AA Change: T153S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: T153S

DomainStartEndE-ValueType
SCOP:d1faoa_ 1 54 1e-4 SMART
Blast:PH 1 56 4e-33 BLAST
PH 80 178 2.83e-13 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik A G 15: 12,810,767 L341P probably damaging Het
Abcd3 A C 3: 121,784,020 N206K probably damaging Het
Adamtsl1 A G 4: 86,232,610 D335G probably damaging Het
Ankmy1 A T 1: 92,896,094 M150K probably damaging Het
Ap3b2 T C 7: 81,465,698 D680G probably benign Het
Asxl3 T A 18: 22,524,345 V1804D probably damaging Het
Bace2 T C 16: 97,415,140 V311A probably damaging Het
C2cd4c T A 10: 79,613,302 T4S probably benign Het
C2cd6 T C 1: 59,051,230 Y456C probably damaging Het
Cbr1 A G 16: 93,609,824 S143G probably benign Het
Ccdc191 A G 16: 43,960,099 T815A probably benign Het
Cenpf T A 1: 189,654,782 Q1767L probably damaging Het
Col6a5 A C 9: 105,936,886 N642K unknown Het
Dcaf10 G A 4: 45,372,769 R394Q possibly damaging Het
Ephb1 A T 9: 102,041,092 I406N possibly damaging Het
F13a1 A G 13: 36,943,894 V370A possibly damaging Het
Gm14403 A T 2: 177,509,464 H401L probably damaging Het
Gp6 T G 7: 4,384,998 R157S probably benign Het
Gucy2e G A 11: 69,232,007 T514I probably benign Het
Hist1h2aa T C 13: 23,934,625 V55A probably damaging Het
Mok A G 12: 110,828,065 I63T probably damaging Het
Otop1 T C 5: 38,288,005 V169A probably damaging Het
Plekha7 A G 7: 116,157,574 probably benign Het
Plekhm1 A T 11: 103,374,094 probably benign Het
Prex1 A G 2: 166,593,867 Y587H probably damaging Het
Scaf1 C A 7: 45,012,118 probably benign Het
Sema3f A T 9: 107,683,984 F601Y probably benign Het
Shoc2 T C 19: 53,988,021 I114T probably benign Het
Skint10 T A 4: 112,765,030 probably benign Het
Slc18b1 T C 10: 23,810,952 probably benign Het
Slco5a1 A G 1: 12,989,636 L287P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Trim5 C A 7: 104,266,218 R296L probably damaging Het
Vmn2r60 G T 7: 42,142,296 E548* probably null Het
Wdr26 A T 1: 181,198,898 W251R probably damaging Het
Other mutations in Pdzph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Pdzph1 APN 17 58974796 missense possibly damaging 0.46
IGL00644:Pdzph1 APN 17 58888110 missense probably benign
IGL01413:Pdzph1 APN 17 58879152 missense possibly damaging 0.82
IGL01530:Pdzph1 APN 17 58922715 missense probably damaging 1.00
IGL02089:Pdzph1 APN 17 58967339 missense possibly damaging 0.92
IGL02201:Pdzph1 APN 17 58967511 splice site probably benign
IGL02548:Pdzph1 APN 17 58973391 missense probably benign 0.10
IGL02618:Pdzph1 APN 17 58879073 utr 3 prime probably benign
IGL02749:Pdzph1 APN 17 58932483 missense possibly damaging 0.95
IGL02876:Pdzph1 APN 17 58974069 missense probably benign
IGL03304:Pdzph1 APN 17 58880646 missense probably damaging 1.00
IGL03336:Pdzph1 APN 17 58974234 missense probably benign 0.00
R0008:Pdzph1 UTSW 17 58922761 splice site probably benign
R0008:Pdzph1 UTSW 17 58922761 splice site probably benign
R0498:Pdzph1 UTSW 17 58973830 missense probably benign 0.00
R0553:Pdzph1 UTSW 17 58922727 missense probably damaging 1.00
R0594:Pdzph1 UTSW 17 58954479 missense possibly damaging 0.76
R1306:Pdzph1 UTSW 17 58932432 missense possibly damaging 0.90
R1370:Pdzph1 UTSW 17 58974087 missense possibly damaging 0.73
R1382:Pdzph1 UTSW 17 58974747 missense probably benign 0.10
R1463:Pdzph1 UTSW 17 58932445 missense probably damaging 1.00
R1766:Pdzph1 UTSW 17 58973752 missense probably benign 0.16
R1773:Pdzph1 UTSW 17 58974813 missense probably damaging 0.98
R1862:Pdzph1 UTSW 17 58922583 missense probably damaging 1.00
R2070:Pdzph1 UTSW 17 58974097 missense probably benign 0.04
R2071:Pdzph1 UTSW 17 58974097 missense probably benign 0.04
R2229:Pdzph1 UTSW 17 58932412 splice site probably benign
R2264:Pdzph1 UTSW 17 58888167 critical splice acceptor site probably null
R2334:Pdzph1 UTSW 17 58922649 missense probably damaging 1.00
R3750:Pdzph1 UTSW 17 58973336 nonsense probably null
R4700:Pdzph1 UTSW 17 58974546 missense probably damaging 0.98
R4847:Pdzph1 UTSW 17 58973530 missense possibly damaging 0.95
R4868:Pdzph1 UTSW 17 58974756 missense probably benign 0.00
R5130:Pdzph1 UTSW 17 58922609 missense probably damaging 1.00
R5329:Pdzph1 UTSW 17 58974880 missense probably damaging 1.00
R5574:Pdzph1 UTSW 17 58973947 missense probably benign 0.00
R5770:Pdzph1 UTSW 17 58879151 missense probably damaging 1.00
R5795:Pdzph1 UTSW 17 58885867 missense possibly damaging 0.47
R5842:Pdzph1 UTSW 17 58974412 missense possibly damaging 0.64
R5851:Pdzph1 UTSW 17 58973746 missense probably benign 0.02
R6158:Pdzph1 UTSW 17 58973627 missense probably damaging 0.96
R6813:Pdzph1 UTSW 17 58974436 missense probably benign 0.08
R7022:Pdzph1 UTSW 17 58974126 missense probably benign 0.02
R7395:Pdzph1 UTSW 17 58879159 missense possibly damaging 0.85
X0028:Pdzph1 UTSW 17 58879121 missense probably damaging 1.00
Posted On2015-04-16