Incidental Mutation 'IGL01895:Pdzk1'
ID179358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzk1
Ensembl Gene ENSMUSG00000038298
Gene NamePDZ domain containing 1
SynonymsmPDZK1, 1700023D20Rik, D3Ertd537e, 4921513F16Rik, 2610507N21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01895
Quality Score
Status
Chromosome3
Chromosomal Location96829284-96870926 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 96869101 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 459 (A459V)
Ref Sequence ENSEMBL: ENSMUSP00000118846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029738] [ENSMUST00000058865] [ENSMUST00000107069] [ENSMUST00000107070] [ENSMUST00000153256]
Predicted Effect probably benign
Transcript: ENSMUST00000029738
SMART Domains Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
transmembrane domain 110 127 N/A INTRINSIC
Pfam:GPHR_N 140 207 1.1e-31 PFAM
Pfam:ABA_GPCR 276 446 4.9e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000058865
AA Change: A459V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: A459V

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107069
AA Change: A459V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: A459V

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107070
AA Change: A459V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: A459V

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146645
Predicted Effect possibly damaging
Transcript: ENSMUST00000153256
AA Change: A459V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: A459V

DomainStartEndE-ValueType
PDZ 18 90 2.41e-17 SMART
PDZ 143 215 1e-14 SMART
PDZ 251 323 2.81e-18 SMART
PDZ 386 458 4.5e-17 SMART
low complexity region 505 514 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,229,107 V2279E possibly damaging Het
Abcc6 A T 7: 46,029,058 I56N possibly damaging Het
Akr1c13 A T 13: 4,205,373 E321V possibly damaging Het
Atp8b3 A T 10: 80,521,828 V1119D possibly damaging Het
Cacna1e G T 1: 154,443,900 F1351L probably damaging Het
Cadps2 A G 6: 23,427,275 W585R probably damaging Het
Ccdc113 C T 8: 95,536,458 probably benign Het
Ccer1 A T 10: 97,694,050 I192F unknown Het
Chd8 T C 14: 52,199,094 N90S probably benign Het
Clca3a1 A T 3: 144,747,572 C463* probably null Het
Cyp2c65 T A 19: 39,072,232 C179S possibly damaging Het
Dennd4b A G 3: 90,275,567 Q35R probably benign Het
Enpep T C 3: 129,270,334 E928G possibly damaging Het
Fem1c T C 18: 46,505,562 T458A probably benign Het
Fezf2 A T 14: 12,342,498 *456R probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14085 A C 2: 122,525,091 Y588S possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Iqcm T G 8: 75,888,560 L423R probably damaging Het
Kcnc4 C A 3: 107,448,218 V305L probably benign Het
Kif1a G A 1: 93,025,733 T1337I possibly damaging Het
Lpxn A G 19: 12,833,086 D298G probably damaging Het
Lypd8 A G 11: 58,390,220 T203A possibly damaging Het
Mrps28 C T 3: 8,900,059 V107M probably damaging Het
Myo15b A G 11: 115,883,498 E586G possibly damaging Het
Rbpj A G 5: 53,651,386 D285G probably damaging Het
Rimbp3 T C 16: 17,211,436 L908P probably damaging Het
Samd4b T C 7: 28,401,909 probably null Het
Stau2 C T 1: 16,345,937 G401S probably damaging Het
Trpa1 A T 1: 14,887,643 I697K possibly damaging Het
Ttc17 A C 2: 94,375,146 V285G possibly damaging Het
Unc5b A G 10: 60,767,085 F845S probably damaging Het
Vmn1r19 A T 6: 57,405,260 Q266L probably benign Het
Vmn2r106 T C 17: 20,278,965 N228S probably benign Het
Vps13d A G 4: 145,156,266 F919S possibly damaging Het
Zbtb38 C T 9: 96,688,408 V208I probably benign Het
Zfp990 A T 4: 145,536,857 T142S probably damaging Het
Zfp990 C A 4: 145,536,858 T142N probably damaging Het
Other mutations in Pdzk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Pdzk1 APN 3 96868426 missense probably benign
IGL01995:Pdzk1 APN 3 96857371 missense probably benign 0.01
IGL02027:Pdzk1 APN 3 96854673 splice site probably benign
R1762:Pdzk1 UTSW 3 96851573 missense probably benign 0.01
R2044:Pdzk1 UTSW 3 96855848 splice site probably benign
R4721:Pdzk1 UTSW 3 96869202 nonsense probably null
R4831:Pdzk1 UTSW 3 96868435 missense probably benign
R5070:Pdzk1 UTSW 3 96850321 missense probably benign 0.05
R6020:Pdzk1 UTSW 3 96868426 missense probably benign
R6049:Pdzk1 UTSW 3 96851663 missense probably benign 0.00
R6816:Pdzk1 UTSW 3 96854570 missense probably benign 0.13
R7065:Pdzk1 UTSW 3 96868432 missense probably benign
R7134:Pdzk1 UTSW 3 96855930 missense probably benign 0.16
R7779:Pdzk1 UTSW 3 96857273 missense probably damaging 1.00
R8097:Pdzk1 UTSW 3 96850240 missense probably benign 0.00
R8350:Pdzk1 UTSW 3 96851708 missense probably benign 0.01
R8450:Pdzk1 UTSW 3 96851708 missense probably benign 0.01
Z1088:Pdzk1 UTSW 3 96854557 missense probably benign
Z1176:Pdzk1 UTSW 3 96854557 missense probably benign
Z1177:Pdzk1 UTSW 3 96854557 missense probably benign
Posted On2014-05-07