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 A630041P07Rik, Pdzk8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02389
Quality Score
Status
Chromosome 19
Chromosomal Location 59296084-59345780 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59301393 bp (GRCm38)
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: 63,896,483 (GRCm38) S11N probably null Het
Aqp9 T C 9: 71,122,906 (GRCm38) I200V possibly damaging Het
BC100530 C A 16: 36,367,486 (GRCm38) V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 (GRCm38) E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Dennd3 A G 15: 73,567,056 (GRCm38) D1091G probably damaging Het
Dock2 T C 11: 34,698,740 (GRCm38) probably benign Het
Dscam T A 16: 96,640,897 (GRCm38) I1577F probably benign Het
Egflam A T 15: 7,250,078 (GRCm38) N482K probably benign Het
Fam216a T C 5: 122,367,511 (GRCm38) T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 (GRCm38) M325V probably benign Het
Fbxw8 C T 5: 118,128,955 (GRCm38) V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 (GRCm38) R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 (GRCm38) probably null Het
Gria2 T C 3: 80,709,422 (GRCm38) T408A probably benign Het
H2-T3 A G 17: 36,186,608 (GRCm38) M59T probably benign Het
Jakmip1 C T 5: 37,100,843 (GRCm38) Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 (GRCm38) G110D unknown Het
Myo7a C T 7: 98,106,991 (GRCm38) probably null Het
Nlrp9c T A 7: 26,394,207 (GRCm38) Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 (GRCm38) D110V probably benign Het
Olfr298 A G 7: 86,489,128 (GRCm38) L141P probably damaging Het
Olfr767 A C 10: 129,079,230 (GRCm38) I244M probably damaging Het
Olfr790 T A 10: 129,501,070 (GRCm38) M62K probably benign Het
Pign A T 1: 105,646,781 (GRCm38) L280* probably null Het
Pik3r4 T G 9: 105,650,331 (GRCm38) I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 (GRCm38) I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 (GRCm38) Q471* probably null Het
Prrc2c A G 1: 162,692,870 (GRCm38) F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 (GRCm38) R52C probably damaging Het
Rfx2 T C 17: 56,808,325 (GRCm38) probably benign Het
Sh3bp4 T C 1: 89,145,148 (GRCm38) F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 (GRCm38) probably benign Het
Slc26a8 T A 17: 28,638,650 (GRCm38) I840F probably benign Het
Slc5a4b A T 10: 76,072,465 (GRCm38) Y364* probably null Het
Slitrk1 A G 14: 108,912,322 (GRCm38) I319T probably benign Het
Stxbp5l C T 16: 37,208,205 (GRCm38) A499T probably benign Het
Tnks2 T A 19: 36,884,103 (GRCm38) S951R probably benign Het
Trim30c A G 7: 104,382,174 (GRCm38) F478S probably benign Het
Tyro3 C T 2: 119,804,864 (GRCm38) probably benign Het
Vmn1r34 A T 6: 66,637,058 (GRCm38) L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 (GRCm38) C215S probably damaging Het
Zzef1 C T 11: 72,891,217 (GRCm38) P1995S probably benign Het
Zzef1 T A 11: 72,899,538 (GRCm38) V2106D possibly damaging Het
Other mutations in Pdzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Pdzd8 APN 19 59,299,786 (GRCm38) missense probably damaging 1.00
IGL01321:Pdzd8 APN 19 59,301,529 (GRCm38) missense probably benign
IGL01865:Pdzd8 APN 19 59,299,645 (GRCm38) missense possibly damaging 0.92
IGL02044:Pdzd8 APN 19 59,315,292 (GRCm38) missense possibly damaging 0.85
IGL02119:Pdzd8 APN 19 59,300,490 (GRCm38) missense possibly damaging 0.95
IGL02186:Pdzd8 APN 19 59,300,628 (GRCm38) missense probably damaging 1.00
IGL02479:Pdzd8 APN 19 59,299,783 (GRCm38) nonsense probably null
IGL02713:Pdzd8 APN 19 59,345,458 (GRCm38) missense probably damaging 0.98
IGL02958:Pdzd8 APN 19 59,300,372 (GRCm38) nonsense probably null
IGL02966:Pdzd8 APN 19 59,300,859 (GRCm38) missense probably damaging 1.00
IGL03166:Pdzd8 APN 19 59,300,508 (GRCm38) missense probably damaging 1.00
citadel UTSW 19 59,299,525 (GRCm38) makesense probably null
Eleventh_hour UTSW 19 59,305,230 (GRCm38) missense probably damaging 1.00
keep UTSW 19 59,301,351 (GRCm38) nonsense probably null
Stronghold UTSW 19 59,345,352 (GRCm38) nonsense probably null
R0018:Pdzd8 UTSW 19 59,300,673 (GRCm38) missense probably damaging 1.00
R0038:Pdzd8 UTSW 19 59,299,596 (GRCm38) missense possibly damaging 0.54
R0196:Pdzd8 UTSW 19 59,301,131 (GRCm38) missense probably benign 0.00
R0233:Pdzd8 UTSW 19 59,300,379 (GRCm38) missense probably damaging 0.99
R0233:Pdzd8 UTSW 19 59,300,379 (GRCm38) missense probably damaging 0.99
R0418:Pdzd8 UTSW 19 59,300,929 (GRCm38) missense probably damaging 1.00
R0736:Pdzd8 UTSW 19 59,344,933 (GRCm38) missense probably damaging 0.99
R1456:Pdzd8 UTSW 19 59,300,472 (GRCm38) missense probably benign 0.01
R1709:Pdzd8 UTSW 19 59,301,339 (GRCm38) missense probably benign
R1965:Pdzd8 UTSW 19 59,300,122 (GRCm38) missense probably benign 0.37
R2155:Pdzd8 UTSW 19 59,300,421 (GRCm38) missense probably damaging 1.00
R3077:Pdzd8 UTSW 19 59,305,156 (GRCm38) critical splice donor site probably null
R3411:Pdzd8 UTSW 19 59,345,413 (GRCm38) missense probably damaging 1.00
R4345:Pdzd8 UTSW 19 59,300,128 (GRCm38) missense probably benign 0.00
R4354:Pdzd8 UTSW 19 59,345,481 (GRCm38) missense probably benign
R4504:Pdzd8 UTSW 19 59,345,448 (GRCm38) missense probably damaging 1.00
R4642:Pdzd8 UTSW 19 59,305,230 (GRCm38) missense probably damaging 1.00
R4705:Pdzd8 UTSW 19 59,345,311 (GRCm38) missense possibly damaging 0.80
R4773:Pdzd8 UTSW 19 59,300,860 (GRCm38) missense probably damaging 1.00
R4876:Pdzd8 UTSW 19 59,300,804 (GRCm38) nonsense probably null
R5176:Pdzd8 UTSW 19 59,344,957 (GRCm38) missense probably damaging 1.00
R5267:Pdzd8 UTSW 19 59,301,026 (GRCm38) missense probably damaging 1.00
R5707:Pdzd8 UTSW 19 59,299,625 (GRCm38) missense probably benign 0.00
R5766:Pdzd8 UTSW 19 59,300,540 (GRCm38) missense possibly damaging 0.65
R5903:Pdzd8 UTSW 19 59,345,286 (GRCm38) missense possibly damaging 0.58
R6036:Pdzd8 UTSW 19 59,305,209 (GRCm38) missense probably damaging 1.00
R6036:Pdzd8 UTSW 19 59,305,209 (GRCm38) missense probably damaging 1.00
R6238:Pdzd8 UTSW 19 59,300,562 (GRCm38) missense probably benign 0.05
R6360:Pdzd8 UTSW 19 59,300,983 (GRCm38) missense probably benign 0.10
R6509:Pdzd8 UTSW 19 59,344,866 (GRCm38) missense probably benign 0.01
R6674:Pdzd8 UTSW 19 59,301,369 (GRCm38) missense probably damaging 1.00
R6808:Pdzd8 UTSW 19 59,299,525 (GRCm38) makesense probably null
R6902:Pdzd8 UTSW 19 59,301,397 (GRCm38) missense possibly damaging 0.91
R7017:Pdzd8 UTSW 19 59,345,352 (GRCm38) nonsense probably null
R7088:Pdzd8 UTSW 19 59,344,957 (GRCm38) missense probably damaging 1.00
R7116:Pdzd8 UTSW 19 59,299,693 (GRCm38) missense probably damaging 1.00
R7158:Pdzd8 UTSW 19 59,300,157 (GRCm38) missense probably damaging 1.00
R7237:Pdzd8 UTSW 19 59,345,139 (GRCm38) missense probably damaging 1.00
R7251:Pdzd8 UTSW 19 59,300,645 (GRCm38) missense possibly damaging 0.96
R7314:Pdzd8 UTSW 19 59,301,351 (GRCm38) nonsense probably null
R7699:Pdzd8 UTSW 19 59,344,941 (GRCm38) missense probably damaging 1.00
R7751:Pdzd8 UTSW 19 59,344,776 (GRCm38) missense probably damaging 0.98
R7759:Pdzd8 UTSW 19 59,299,926 (GRCm38) missense probably damaging 1.00
R7784:Pdzd8 UTSW 19 59,327,863 (GRCm38) missense probably damaging 1.00
R7917:Pdzd8 UTSW 19 59,345,086 (GRCm38) missense probably damaging 0.96
R9364:Pdzd8 UTSW 19 59,345,142 (GRCm38) missense probably damaging 1.00
R9368:Pdzd8 UTSW 19 59,300,787 (GRCm38) nonsense probably null
R9406:Pdzd8 UTSW 19 59,344,813 (GRCm38) missense
R9548:Pdzd8 UTSW 19 59,301,394 (GRCm38) missense probably benign 0.13
R9554:Pdzd8 UTSW 19 59,345,142 (GRCm38) missense probably damaging 1.00
R9688:Pdzd8 UTSW 19 59,345,251 (GRCm38) missense probably benign 0.05
R9750:Pdzd8 UTSW 19 59,301,252 (GRCm38) missense probably benign 0.00
Posted On 2015-04-16