Incidental Mutation 'IGL02389:Pdzd8'
ID 291670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzd8
Ensembl Gene ENSMUSG00000074746
Gene Name PDZ domain containing 8
Synonyms Pdzk8, A630041P07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02389
Quality Score
Status
Chromosome 19
Chromosomal Location 59285610-59334212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59289825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 525 (I525T)
Ref Sequence ENSEMBL: ENSMUSP00000096880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099274]
AlphaFold B9EJ80
Predicted Effect probably benign
Transcript: ENSMUST00000099274
AA Change: I525T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: I525T

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
PDZ 374 448 2.02e-10 SMART
low complexity region 582 596 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
C1 834 884 8.31e-8 SMART
coiled coil region 1021 1057 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Pdzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Pdzd8 APN 19 59,288,218 (GRCm39) missense probably damaging 1.00
IGL01321:Pdzd8 APN 19 59,289,961 (GRCm39) missense probably benign
IGL01865:Pdzd8 APN 19 59,288,077 (GRCm39) missense possibly damaging 0.92
IGL02044:Pdzd8 APN 19 59,303,724 (GRCm39) missense possibly damaging 0.85
IGL02119:Pdzd8 APN 19 59,288,922 (GRCm39) missense possibly damaging 0.95
IGL02186:Pdzd8 APN 19 59,289,060 (GRCm39) missense probably damaging 1.00
IGL02479:Pdzd8 APN 19 59,288,215 (GRCm39) nonsense probably null
IGL02713:Pdzd8 APN 19 59,333,890 (GRCm39) missense probably damaging 0.98
IGL02958:Pdzd8 APN 19 59,288,804 (GRCm39) nonsense probably null
IGL02966:Pdzd8 APN 19 59,289,291 (GRCm39) missense probably damaging 1.00
IGL03166:Pdzd8 APN 19 59,288,940 (GRCm39) missense probably damaging 1.00
citadel UTSW 19 59,287,957 (GRCm39) makesense probably null
Eleventh_hour UTSW 19 59,293,662 (GRCm39) missense probably damaging 1.00
keep UTSW 19 59,289,783 (GRCm39) nonsense probably null
Stronghold UTSW 19 59,333,784 (GRCm39) nonsense probably null
R0018:Pdzd8 UTSW 19 59,289,105 (GRCm39) missense probably damaging 1.00
R0038:Pdzd8 UTSW 19 59,288,028 (GRCm39) missense possibly damaging 0.54
R0196:Pdzd8 UTSW 19 59,289,563 (GRCm39) missense probably benign 0.00
R0233:Pdzd8 UTSW 19 59,288,811 (GRCm39) missense probably damaging 0.99
R0233:Pdzd8 UTSW 19 59,288,811 (GRCm39) missense probably damaging 0.99
R0418:Pdzd8 UTSW 19 59,289,361 (GRCm39) missense probably damaging 1.00
R0736:Pdzd8 UTSW 19 59,333,365 (GRCm39) missense probably damaging 0.99
R1456:Pdzd8 UTSW 19 59,288,904 (GRCm39) missense probably benign 0.01
R1709:Pdzd8 UTSW 19 59,289,771 (GRCm39) missense probably benign
R1965:Pdzd8 UTSW 19 59,288,554 (GRCm39) missense probably benign 0.37
R2155:Pdzd8 UTSW 19 59,288,853 (GRCm39) missense probably damaging 1.00
R3077:Pdzd8 UTSW 19 59,293,588 (GRCm39) critical splice donor site probably null
R3411:Pdzd8 UTSW 19 59,333,845 (GRCm39) missense probably damaging 1.00
R4345:Pdzd8 UTSW 19 59,288,560 (GRCm39) missense probably benign 0.00
R4354:Pdzd8 UTSW 19 59,333,913 (GRCm39) missense probably benign
R4504:Pdzd8 UTSW 19 59,333,880 (GRCm39) missense probably damaging 1.00
R4642:Pdzd8 UTSW 19 59,293,662 (GRCm39) missense probably damaging 1.00
R4705:Pdzd8 UTSW 19 59,333,743 (GRCm39) missense possibly damaging 0.80
R4773:Pdzd8 UTSW 19 59,289,292 (GRCm39) missense probably damaging 1.00
R4876:Pdzd8 UTSW 19 59,289,236 (GRCm39) nonsense probably null
R5176:Pdzd8 UTSW 19 59,333,389 (GRCm39) missense probably damaging 1.00
R5267:Pdzd8 UTSW 19 59,289,458 (GRCm39) missense probably damaging 1.00
R5707:Pdzd8 UTSW 19 59,288,057 (GRCm39) missense probably benign 0.00
R5766:Pdzd8 UTSW 19 59,288,972 (GRCm39) missense possibly damaging 0.65
R5903:Pdzd8 UTSW 19 59,333,718 (GRCm39) missense possibly damaging 0.58
R6036:Pdzd8 UTSW 19 59,293,641 (GRCm39) missense probably damaging 1.00
R6036:Pdzd8 UTSW 19 59,293,641 (GRCm39) missense probably damaging 1.00
R6238:Pdzd8 UTSW 19 59,288,994 (GRCm39) missense probably benign 0.05
R6360:Pdzd8 UTSW 19 59,289,415 (GRCm39) missense probably benign 0.10
R6509:Pdzd8 UTSW 19 59,333,298 (GRCm39) missense probably benign 0.01
R6674:Pdzd8 UTSW 19 59,289,801 (GRCm39) missense probably damaging 1.00
R6808:Pdzd8 UTSW 19 59,287,957 (GRCm39) makesense probably null
R6902:Pdzd8 UTSW 19 59,289,829 (GRCm39) missense possibly damaging 0.91
R7017:Pdzd8 UTSW 19 59,333,784 (GRCm39) nonsense probably null
R7088:Pdzd8 UTSW 19 59,333,389 (GRCm39) missense probably damaging 1.00
R7116:Pdzd8 UTSW 19 59,288,125 (GRCm39) missense probably damaging 1.00
R7158:Pdzd8 UTSW 19 59,288,589 (GRCm39) missense probably damaging 1.00
R7237:Pdzd8 UTSW 19 59,333,571 (GRCm39) missense probably damaging 1.00
R7251:Pdzd8 UTSW 19 59,289,077 (GRCm39) missense possibly damaging 0.96
R7314:Pdzd8 UTSW 19 59,289,783 (GRCm39) nonsense probably null
R7699:Pdzd8 UTSW 19 59,333,373 (GRCm39) missense probably damaging 1.00
R7751:Pdzd8 UTSW 19 59,333,208 (GRCm39) missense probably damaging 0.98
R7759:Pdzd8 UTSW 19 59,288,358 (GRCm39) missense probably damaging 1.00
R7784:Pdzd8 UTSW 19 59,316,295 (GRCm39) missense probably damaging 1.00
R7917:Pdzd8 UTSW 19 59,333,518 (GRCm39) missense probably damaging 0.96
R9364:Pdzd8 UTSW 19 59,333,574 (GRCm39) missense probably damaging 1.00
R9368:Pdzd8 UTSW 19 59,289,219 (GRCm39) nonsense probably null
R9406:Pdzd8 UTSW 19 59,333,245 (GRCm39) missense
R9548:Pdzd8 UTSW 19 59,289,826 (GRCm39) missense probably benign 0.13
R9554:Pdzd8 UTSW 19 59,333,574 (GRCm39) missense probably damaging 1.00
R9688:Pdzd8 UTSW 19 59,333,683 (GRCm39) missense probably benign 0.05
R9750:Pdzd8 UTSW 19 59,289,684 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16