Incidental Mutation 'IGL03166:Pdzd8'
ID411627
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 #IGL03166
Quality Score
Status
Chromosome19
Chromosomal Location59296084-59345780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59300508 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 820 (E820G)
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 probably damaging
Transcript: ENSMUST00000099274
AA Change: E820G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: E820G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110079O15Rik A C 1: 87,475,211 probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Ankfn1 G T 11: 89,538,438 A40D probably benign Het
Arhgap20 T A 9: 51,849,777 I940K possibly damaging Het
Arhgap24 T C 5: 102,875,686 probably benign Het
Bdp1 T C 13: 100,035,800 T2103A probably benign Het
Cep350 A G 1: 155,863,600 S2166P possibly damaging Het
Dlg2 T C 7: 91,900,730 probably benign Het
Fam160b2 A T 14: 70,590,176 C160S probably damaging Het
Fyco1 A T 9: 123,828,387 L908H probably benign Het
Gprc5b C A 7: 118,983,999 A216S probably benign Het
Lamc1 A G 1: 153,332,301 V80A probably benign Het
Lilra6 T C 7: 3,912,627 I370V possibly damaging Het
Lim2 T A 7: 43,430,623 C11* probably null Het
Lrp1b T A 2: 41,111,038 H2058L probably damaging Het
Lrp3 G T 7: 35,202,480 L659I probably benign Het
Lrrc8a T G 2: 30,255,365 S64A probably benign Het
Lsr C T 7: 30,962,097 probably null Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Man2c1 T A 9: 57,139,098 V479E probably damaging Het
Mtf2 T A 5: 108,106,720 D462E probably benign Het
Mx2 T C 16: 97,546,790 I205T probably damaging Het
Nos1 T A 5: 117,914,452 probably benign Het
Olfr78 T C 7: 102,742,047 N319D probably benign Het
Optc C T 1: 133,903,792 probably benign Het
Orm1 C A 4: 63,344,594 probably benign Het
Pkp1 A T 1: 135,878,124 M612K probably damaging Het
Pno1 T A 11: 17,204,513 probably null Het
Rbm34 T C 8: 126,970,856 Q35R probably damaging Het
Ryr3 A T 2: 112,641,112 Y4564* probably null Het
Slc34a3 T C 2: 25,232,174 I140V probably damaging Het
Slc43a1 T C 2: 84,857,356 I419T possibly damaging Het
Sltm C A 9: 70,542,969 A17E possibly damaging Het
Smpdl3b T C 4: 132,741,531 D125G probably benign Het
Supt3 G T 17: 44,923,219 A48S probably damaging Het
Tlr3 A G 8: 45,402,928 F72L probably benign Het
Trim36 T C 18: 46,212,321 E15G probably benign Het
Tubb4b-ps1 A T 5: 7,179,965 probably benign Het
Vmn2r68 T C 7: 85,222,123 T651A probably benign Het
Wdr76 G T 2: 121,534,306 V462F possibly damaging Het
Wnk2 C A 13: 49,071,044 G1112* probably null Het
Zfp868 A C 8: 69,612,314 C123W probably damaging Het
Zyg11b T A 4: 108,265,889 M294L 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
IGL01865:Pdzd8 APN 19 59299645 missense possibly damaging 0.92
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
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
R7699:Pdzd8 UTSW 19 59344941 missense probably damaging 1.00
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
R7917:Pdzd8 UTSW 19 59345086 missense probably damaging 0.96
Posted On2016-08-02