Incidental Mutation 'IGL03304:Pdzph1'
ID416331
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 #IGL03304
Quality Score
Status
Chromosome17
Chromosomal Location58878808-58991375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 58880646 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 1193 (T1193I)
Ref Sequence ENSEMBL: ENSMUSP00000025064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064] [ENSMUST00000177360]
Predicted Effect probably damaging
Transcript: ENSMUST00000025064
AA Change: T1193I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T1193I

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 possibly damaging
Transcript: ENSMUST00000177360
AA Change: T153I

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: T153I

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,142,242 Y534C probably damaging Het
Acy1 A T 9: 106,435,466 probably null Het
Adamts4 T C 1: 171,252,869 probably benign Het
Anapc1 A T 2: 128,627,113 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aoah A G 13: 20,915,010 probably benign Het
Atp9b A T 18: 80,917,877 Y40N probably damaging Het
Brd8 A G 18: 34,614,580 probably benign Het
Cd274 A C 19: 29,384,102 E270A probably damaging Het
Cic T A 7: 25,284,849 V23E probably damaging Het
Cpeb4 T C 11: 31,872,739 L151P probably damaging Het
D3Ertd751e G A 3: 41,746,729 probably null Het
Diaph1 A T 18: 37,854,573 D1043E possibly damaging Het
Hmcn1 T A 1: 150,630,231 N3848I probably damaging Het
Ifi211 A T 1: 173,907,707 M52K probably damaging Het
Itih4 T C 14: 30,898,049 I747T probably damaging Het
Kif1bp A C 10: 62,559,303 L520R probably damaging Het
Lcat T C 8: 105,940,063 M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 D282E probably damaging Het
Mst1r T A 9: 107,907,938 V265D probably damaging Het
Muc4 T A 16: 32,751,439 L439* probably null Het
Nlrp4e T A 7: 23,353,343 probably null Het
Ogfod2 A T 5: 124,112,823 D24V probably damaging Het
Olfr1413 T C 1: 92,573,303 V44A probably benign Het
Olfr1458 A G 19: 13,102,741 S182P probably damaging Het
Olfr356 T C 2: 36,937,548 L143P probably damaging Het
Pcnx T A 12: 81,982,029 W1661R probably damaging Het
Pias3 A G 3: 96,700,031 T152A possibly damaging Het
Pla2g5 A T 4: 138,804,569 Y41* probably null Het
Plxna4 A G 6: 32,165,051 probably benign Het
Ppp2r2a A C 14: 67,016,528 V397G probably benign Het
Ripor3 A G 2: 167,980,928 probably benign Het
Slc35a3 A G 3: 116,687,311 L101P probably damaging Het
Sptan1 G A 2: 29,986,493 R295Q probably damaging Het
Syce1 A T 7: 140,777,710 V314D possibly damaging Het
Tex52 T C 6: 128,379,532 Y63H possibly damaging Het
Tmem63a T A 1: 180,968,853 Y580* probably null Het
Ube2m T A 7: 13,035,758 probably benign Het
Vmn1r50 G T 6: 90,107,643 K123N 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
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
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
R7525:Pdzph1 UTSW 17 58967341 missense possibly damaging 0.73
X0028:Pdzph1 UTSW 17 58879121 missense probably damaging 1.00
Posted On2016-08-02