Incidental Mutation 'IGL02511:Pdzd4'
ID296528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzd4
Ensembl Gene ENSMUSG00000002006
Gene NamePDZ domain containing 4
SynonymsPdzk4, Kiaa1444-hp, Pdzrnk4l, PDZRN4L, PDZD4, Xlu, LU1, D130075J17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02511
Quality Score
Status
ChromosomeX
Chromosomal Location73793359-73824969 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73794600 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 701 (M701L)
Ref Sequence ENSEMBL: ENSMUSP00000002080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002080] [ENSMUST00000002090] [ENSMUST00000114438] [ENSMUST00000166518]
Predicted Effect probably damaging
Transcript: ENSMUST00000002080
AA Change: M701L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002080
Gene: ENSMUSG00000002006
AA Change: M701L

DomainStartEndE-ValueType
Blast:PDZ 1 53 4e-14 BLAST
SCOP:d1qava_ 17 52 4e-3 SMART
PDZ 146 221 2.22e-16 SMART
low complexity region 230 239 N/A INTRINSIC
low complexity region 339 354 N/A INTRINSIC
low complexity region 357 367 N/A INTRINSIC
coiled coil region 394 424 N/A INTRINSIC
low complexity region 486 497 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002090
SMART Domains Protein: ENSMUSP00000002090
Gene: ENSMUSG00000002014

DomainStartEndE-ValueType
Pfam:TRAP-delta 4 172 3.7e-81 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114438
AA Change: M586L

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110081
Gene: ENSMUSG00000002006
AA Change: M586L

DomainStartEndE-ValueType
PDZ 31 106 2.22e-16 SMART
low complexity region 115 124 N/A INTRINSIC
low complexity region 224 239 N/A INTRINSIC
low complexity region 242 252 N/A INTRINSIC
coiled coil region 279 309 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
low complexity region 492 507 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155552
Predicted Effect probably benign
Transcript: ENSMUST00000166518
SMART Domains Protein: ENSMUSP00000131386
Gene: ENSMUSG00000002014

DomainStartEndE-ValueType
Pfam:TRAP-delta 6 173 4.7e-81 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,861,766 probably benign Het
Adam3 T A 8: 24,695,176 D502V probably damaging Het
Adss T C 1: 177,771,134 probably benign Het
Ankrd36 T A 11: 5,660,845 probably null Het
Atf6b T C 17: 34,654,641 S692P probably benign Het
Cap2 T C 13: 46,531,022 M1T probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn1 A T 15: 92,216,385 probably benign Het
Copg2 A T 6: 30,858,822 F218Y probably benign Het
Dll4 G A 2: 119,326,466 G73E probably damaging Het
Dzip3 T C 16: 48,936,980 M897V possibly damaging Het
Ehbp1 T C 11: 22,089,653 R816G probably damaging Het
Enoph1 T C 5: 100,061,035 L83P probably benign Het
Enpep A G 3: 129,321,410 S238P probably damaging Het
Fermt1 A C 2: 132,933,166 probably benign Het
Gm6619 T A 6: 131,490,367 I65K possibly damaging Het
Krtap31-2 T A 11: 99,936,692 C117S possibly damaging Het
Ksr1 T C 11: 79,045,220 D106G possibly damaging Het
Lgr4 A T 2: 110,011,272 Y534F probably benign Het
Mamdc2 T C 19: 23,378,731 T118A probably benign Het
Myo10 T A 15: 25,723,889 I170N probably damaging Het
Myom2 T C 8: 15,065,743 S53P probably benign Het
Npl T A 1: 153,515,481 D176V probably damaging Het
Nrm T C 17: 35,861,424 S14P probably damaging Het
Olfr1043 A G 2: 86,162,019 I310T probably benign Het
Olfr111 A G 17: 37,529,979 M1V probably null Het
Olfr495 T A 7: 108,396,058 F313I probably benign Het
Papola T A 12: 105,809,345 C204S probably damaging Het
Pard3 A T 8: 127,161,320 probably benign Het
Pkhd1 A T 1: 20,073,507 V3865E possibly damaging Het
Plxna3 C A X: 74,335,385 Q712K probably damaging Het
Pon1 A G 6: 5,193,724 L9P probably damaging Het
Pygm A T 19: 6,385,688 I83F probably benign Het
Scyl2 A G 10: 89,640,819 S815P probably benign Het
Serpina1a C T 12: 103,855,967 W212* probably null Het
Slc38a9 C A 13: 112,698,007 D239E possibly damaging Het
Smad6 A G 9: 63,953,577 F479L probably damaging Het
Smarcc2 T C 10: 128,461,382 S48P probably damaging Het
Ttn T A 2: 76,937,690 M3022L unknown Het
Tulp1 C A 17: 28,356,168 R441L probably benign Het
Ugt1a10 T C 1: 88,055,863 F128L probably damaging Het
Ulk4 A G 9: 121,188,354 V686A probably damaging Het
Ush2a T C 1: 188,743,687 probably null Het
Ushbp1 T C 8: 71,390,937 M286V probably null Het
Usp51 T G X: 153,008,730 I440R probably damaging Het
Wee1 G T 7: 110,139,276 R532L possibly damaging Het
Zfhx4 A G 3: 5,399,183 E1467G probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp551 A G 7: 12,416,675 V269A possibly damaging Het
Other mutations in Pdzd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1102:Pdzd4 UTSW X 73795446 missense probably damaging 1.00
R1885:Pdzd4 UTSW X 73795446 missense probably damaging 1.00
R1887:Pdzd4 UTSW X 73795446 missense probably damaging 1.00
Posted On2015-04-16