Incidental Mutation 'IGL02186:Pdzd8'
ID283629
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 #IGL02186
Quality Score
Status
Chromosome19
Chromosomal Location59296084-59345780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59300628 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 780 (G780D)
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: G780D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: G780D

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,468 F100S unknown Het
Abca3 A G 17: 24,377,740 Y389C possibly damaging Het
Acrbp G T 6: 125,054,810 probably null Het
Adam21 G A 12: 81,559,209 T593I possibly damaging Het
Adipor1 T A 1: 134,425,960 M161K probably benign Het
Agrp A T 8: 105,567,189 N48K probably benign Het
Asprv1 A T 6: 86,628,918 M249L probably damaging Het
Begain A G 12: 109,033,352 Y703H probably damaging Het
Bspry T A 4: 62,495,989 probably benign Het
Cct8l1 T G 5: 25,516,838 S184A probably benign Het
Cdk13 C T 13: 17,772,527 V549I probably benign Het
Cdyl2 C T 8: 116,579,286 R412Q possibly damaging Het
Celf6 T C 9: 59,603,525 S205P probably damaging Het
Cltc G A 11: 86,704,985 A1263V possibly damaging Het
Cltc C A 11: 86,704,986 A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,793 F62L probably damaging Het
Dlec1 T A 9: 119,143,627 C1473S probably benign Het
Dmbt1 T A 7: 131,093,256 probably benign Het
Dnase1 G A 16: 4,039,032 V176I probably benign Het
Dusp1 G T 17: 26,507,058 Y220* probably null Het
Enpp3 A C 10: 24,791,983 probably benign Het
Exosc10 T C 4: 148,565,298 L395P probably damaging Het
Fn1 T C 1: 71,638,534 K533R probably damaging Het
Gcm2 T A 13: 41,104,649 T168S possibly damaging Het
Gm9924 C A 5: 31,095,147 probably benign Het
Ifrd1 A G 12: 40,214,093 V101A probably benign Het
Iqsec1 G T 6: 90,676,877 Q629K probably damaging Het
Kcnma1 T A 14: 23,526,813 M254L probably benign Het
Krit1 T C 5: 3,809,733 probably benign Het
Letm1 T C 5: 33,745,047 K633E probably benign Het
Mfsd1 A G 3: 67,596,595 I307V probably benign Het
Mtrr T C 13: 68,564,357 T637A probably benign Het
Naxe C A 3: 88,056,998 D212Y probably damaging Het
Nlk A T 11: 78,586,936 V327D probably damaging Het
Olfr1131 A T 2: 87,629,371 I187F probably benign Het
Olfr38 A G 6: 42,762,946 K298R probably null Het
Prune1 T C 3: 95,259,237 probably benign Het
Qser1 A T 2: 104,788,261 H645Q probably damaging Het
Rd3l A G 12: 111,979,467 Y193H probably benign Het
Reln A G 5: 21,909,958 Y3119H probably damaging Het
Scel C T 14: 103,564,821 A219V probably benign Het
Skint11 A T 4: 114,244,636 Q91L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc5a5 C A 8: 70,886,120 D516Y possibly damaging Het
Slc8b1 G A 5: 120,527,863 probably null Het
Slc9a3 A G 13: 74,163,114 E576G possibly damaging Het
Slco1b2 A T 6: 141,634,545 probably benign Het
Smc5 A G 19: 23,231,859 V647A probably damaging Het
Snph T C 2: 151,594,343 N222D possibly damaging Het
Srbd1 A G 17: 86,109,231 F500L probably benign Het
Stxbp6 T C 12: 44,902,023 D101G probably damaging Het
Taar7b A G 10: 23,999,981 I15V probably benign Het
Tdrd12 G T 7: 35,501,401 N338K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem219 A T 7: 126,896,816 D128E probably benign Het
Togaram2 A G 17: 71,685,171 T3A possibly damaging Het
Ttn C T 2: 76,894,283 probably benign Het
Uchl1 C A 5: 66,677,039 C47* probably null Het
Unc79 T G 12: 103,011,283 S182A probably benign Het
Vmn2r1 A G 3: 64,081,717 T26A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vps54 T C 11: 21,306,947 V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 V126G possibly damaging Het
Zmym2 A G 14: 56,943,351 T907A 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
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
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 On2015-04-16