Incidental Mutation 'IGL02618:Pdzph1'
ID300754
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: 0.096) question?
Stock #IGL02618
Quality Score
Status
Chromosome17
Chromosomal Location58878808-58991375 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to C at 58879073 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064] [ENSMUST00000177360]
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177108
Predicted Effect probably benign
Transcript: ENSMUST00000177360
SMART Domains Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,057,301 Q178* probably null Het
Adgre1 T A 17: 57,444,021 V565E possibly damaging Het
Arfgef2 C A 2: 166,853,313 N535K probably damaging Het
Bbx A G 16: 50,247,798 L161S probably damaging Het
Bclaf1 T C 10: 20,323,528 S224P probably damaging Het
Car2 A G 3: 14,897,972 D189G probably benign Het
Catsperb A T 12: 101,480,724 probably benign Het
Ccdc88c C T 12: 100,913,553 V1770I probably benign Het
Cebpe T C 14: 54,710,777 D203G probably damaging Het
Chn2 A G 6: 54,220,437 N104S probably damaging Het
Clec2i G A 6: 128,896,501 C231Y probably damaging Het
Col4a5 C T X: 141,683,682 P1557S probably damaging Het
Creb3l1 T C 2: 91,983,198 N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 D587E probably benign Het
Dnmt3l T C 10: 78,054,022 probably benign Het
Dock7 A G 4: 99,083,028 V100A probably benign Het
Frk C T 10: 34,583,964 T185I possibly damaging Het
Frmd4b G A 6: 97,308,105 Q340* probably null Het
Lima1 C A 15: 99,802,216 probably benign Het
Ndrg1 G A 15: 66,940,237 H202Y probably benign Het
Nxpe2 T G 9: 48,326,334 N207T probably damaging Het
Olfr201 A T 16: 59,268,927 S247T probably damaging Het
Pinx1 A G 14: 63,868,520 D75G probably damaging Het
Plxdc1 A T 11: 97,932,304 D370E probably benign Het
Polb A T 8: 22,637,093 L228Q probably damaging Het
Rab3gap2 T A 1: 185,251,741 I521N possibly damaging Het
Rapgef1 A G 2: 29,737,943 D1045G probably damaging Het
Rbks A T 5: 31,624,519 Y312* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Soga1 A G 2: 157,040,566 L522P probably damaging Het
Src A T 2: 157,464,778 K234* probably null Het
Stk36 C A 1: 74,631,675 probably benign Het
Ttll6 G T 11: 96,147,562 C412F probably benign Het
Zfp58 A G 13: 67,491,356 F339L possibly 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
IGL02660:Pdzph1 APN 17 58880647 missense probably damaging 0.97
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