Incidental Mutation 'IGL01865:Pdzd8'
ID178464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzd8
Ensembl Gene ENSMUSG00000074746
Gene NamePDZ domain containing 8
SynonymsA630041P07Rik, Pdzk8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01865
Quality Score
Status
Chromosome19
Chromosomal Location59296084-59345780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59299645 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1108 (K1108E)
Ref Sequence ENSEMBL: ENSMUSP00000096880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026084] [ENSMUST00000099274]
Predicted Effect probably benign
Transcript: ENSMUST00000026084
SMART Domains Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094

DomainStartEndE-ValueType
Pfam:MFS_1 22 428 6.8e-40 PFAM
Pfam:Sugar_tr 26 284 5.9e-10 PFAM
Pfam:MFS_2 127 457 4.3e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099274
AA Change: K1108E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: K1108E

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 128,236,935 H162R probably damaging Het
Adamts10 T A 17: 33,553,166 M1096K probably damaging Het
Asap3 G T 4: 136,236,404 C325F probably damaging Het
Atm T C 9: 53,461,002 E2160G probably damaging Het
Col4a1 G A 8: 11,201,790 probably benign Het
Ctdp1 C T 18: 80,455,984 G248S probably damaging Het
Dcaf5 A T 12: 80,339,314 D679E probably benign Het
Efcab2 C A 1: 178,475,688 Y91* probably null Het
Eif3d G T 15: 77,967,346 T88K probably benign Het
Gapvd1 G A 2: 34,695,503 A1049V probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm18856 T A 13: 13,964,923 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm9991 A G 1: 90,678,913 noncoding transcript Het
Hapln1 T C 13: 89,601,665 Y110H probably damaging Het
Htr1f A G 16: 64,925,919 Y337H probably damaging Het
Kirrel T A 3: 87,086,424 S509C probably damaging Het
Limch1 A T 5: 66,974,580 R138* probably null Het
Lypla1 A C 1: 4,837,036 I108L probably damaging Het
Mc3r A G 2: 172,249,055 N66D probably damaging Het
Melk T A 4: 44,344,988 C373S probably benign Het
Myocd C A 11: 65,200,897 S73I probably benign Het
Nell2 A G 15: 95,385,081 V360A possibly damaging Het
Npas4 G A 19: 4,985,791 Q782* probably null Het
Olfr1352 A T 10: 78,984,678 D296V possibly damaging Het
Per2 A G 1: 91,421,517 I1044T probably benign Het
Pgm3 A G 9: 86,555,318 F501S possibly damaging Het
Ppp1r3c A G 19: 36,734,178 V64A probably benign Het
Ptpn6 A T 6: 124,732,465 I15N probably damaging Het
Pxk T C 14: 8,136,923 V148A possibly damaging Het
Rngtt T A 4: 33,325,157 probably benign Het
Rtkn2 T G 10: 68,035,875 S364R probably benign Het
Rtn1 A C 12: 72,219,300 L167R probably damaging Het
Sp2 G A 11: 96,961,042 T352I probably damaging Het
Tbc1d17 A G 7: 44,842,689 M459T possibly damaging Het
Tbcd T A 11: 121,590,380 M694K possibly damaging Het
Tln2 G A 9: 67,250,614 R1148* probably null Het
Trim27 T C 13: 21,192,492 V294A probably damaging Het
Tspyl5 G T 15: 33,687,712 A29E unknown Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vrk2 C T 11: 26,535,560 V143I possibly damaging Het
Zfp952 G A 17: 33,002,817 R52Q probably benign Het
Zfp979 A T 4: 147,615,317 D55E probably benign Het
Other mutations in Pdzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Pdzd8 APN 19 59299786 missense probably damaging 1.00
IGL01321:Pdzd8 APN 19 59301529 missense probably benign
IGL02044:Pdzd8 APN 19 59315292 missense possibly damaging 0.85
IGL02119:Pdzd8 APN 19 59300490 missense possibly damaging 0.95
IGL02186:Pdzd8 APN 19 59300628 missense probably damaging 1.00
IGL02389:Pdzd8 APN 19 59301393 missense probably benign 0.00
IGL02479:Pdzd8 APN 19 59299783 nonsense probably null
IGL02713:Pdzd8 APN 19 59345458 missense probably damaging 0.98
IGL02958:Pdzd8 APN 19 59300372 nonsense probably null
IGL02966:Pdzd8 APN 19 59300859 missense probably damaging 1.00
IGL03166:Pdzd8 APN 19 59300508 missense probably damaging 1.00
citadel UTSW 19 59299525 makesense probably null
Eleventh_hour UTSW 19 59305230 missense probably damaging 1.00
keep UTSW 19 59301351 nonsense probably null
Stronghold UTSW 19 59345352 nonsense probably null
R0018:Pdzd8 UTSW 19 59300673 missense probably damaging 1.00
R0038:Pdzd8 UTSW 19 59299596 missense possibly damaging 0.54
R0196:Pdzd8 UTSW 19 59301131 missense probably benign 0.00
R0233:Pdzd8 UTSW 19 59300379 missense probably damaging 0.99
R0233:Pdzd8 UTSW 19 59300379 missense probably damaging 0.99
R0418:Pdzd8 UTSW 19 59300929 missense probably damaging 1.00
R0736:Pdzd8 UTSW 19 59344933 missense probably damaging 0.99
R1456:Pdzd8 UTSW 19 59300472 missense probably benign 0.01
R1709:Pdzd8 UTSW 19 59301339 missense probably benign
R1965:Pdzd8 UTSW 19 59300122 missense probably benign 0.37
R2155:Pdzd8 UTSW 19 59300421 missense probably damaging 1.00
R3077:Pdzd8 UTSW 19 59305156 critical splice donor site probably null
R3411:Pdzd8 UTSW 19 59345413 missense probably damaging 1.00
R4345:Pdzd8 UTSW 19 59300128 missense probably benign 0.00
R4354:Pdzd8 UTSW 19 59345481 missense probably benign
R4504:Pdzd8 UTSW 19 59345448 missense probably damaging 1.00
R4642:Pdzd8 UTSW 19 59305230 missense probably damaging 1.00
R4705:Pdzd8 UTSW 19 59345311 missense possibly damaging 0.80
R4773:Pdzd8 UTSW 19 59300860 missense probably damaging 1.00
R4876:Pdzd8 UTSW 19 59300804 nonsense probably null
R5176:Pdzd8 UTSW 19 59344957 missense probably damaging 1.00
R5267:Pdzd8 UTSW 19 59301026 missense probably damaging 1.00
R5707:Pdzd8 UTSW 19 59299625 missense probably benign 0.00
R5766:Pdzd8 UTSW 19 59300540 missense possibly damaging 0.65
R5903:Pdzd8 UTSW 19 59345286 missense possibly damaging 0.58
R6036:Pdzd8 UTSW 19 59305209 missense probably damaging 1.00
R6036:Pdzd8 UTSW 19 59305209 missense probably damaging 1.00
R6238:Pdzd8 UTSW 19 59300562 missense probably benign 0.05
R6360:Pdzd8 UTSW 19 59300983 missense probably benign 0.10
R6509:Pdzd8 UTSW 19 59344866 missense probably benign 0.01
R6674:Pdzd8 UTSW 19 59301369 missense probably damaging 1.00
R6808:Pdzd8 UTSW 19 59299525 makesense probably null
R6902:Pdzd8 UTSW 19 59301397 missense possibly damaging 0.91
R7017:Pdzd8 UTSW 19 59345352 nonsense probably null
R7088:Pdzd8 UTSW 19 59344957 missense probably damaging 1.00
R7116:Pdzd8 UTSW 19 59299693 missense probably damaging 1.00
R7158:Pdzd8 UTSW 19 59300157 missense probably damaging 1.00
R7237:Pdzd8 UTSW 19 59345139 missense probably damaging 1.00
R7251:Pdzd8 UTSW 19 59300645 missense possibly damaging 0.96
R7314:Pdzd8 UTSW 19 59301351 nonsense probably null
R7751:Pdzd8 UTSW 19 59344776 missense probably damaging 0.98
R7759:Pdzd8 UTSW 19 59299926 missense probably damaging 1.00
R7784:Pdzd8 UTSW 19 59327863 missense probably damaging 1.00
Posted On2014-05-07