Incidental Mutation 'IGL01570:Pdzk1ip1'
ID91111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzk1ip1
Ensembl Gene ENSMUSG00000028716
Gene NamePDZK1 interacting protein 1
SynonymsMap17, 2700030M23Rik, 0610007F13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL01570
Quality Score
Status
Chromosome4
Chromosomal Location115088708-115093899 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 115089017 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 25 (P25S)
Ref Sequence ENSEMBL: ENSMUSP00000128118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030488] [ENSMUST00000106548] [ENSMUST00000171877] [ENSMUST00000177647]
Predicted Effect probably benign
Transcript: ENSMUST00000030488
SMART Domains Protein: ENSMUSP00000030488
Gene: ENSMUSG00000028716

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 33 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106548
SMART Domains Protein: ENSMUSP00000102158
Gene: ENSMUSG00000028716

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 33 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149245
Predicted Effect possibly damaging
Transcript: ENSMUST00000171877
AA Change: P25S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128118
Gene: ENSMUSG00000028716
AA Change: P25S

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
Pfam:MAP17 68 181 2.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177647
SMART Domains Protein: ENSMUSP00000136049
Gene: ENSMUSG00000028716

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 33 55 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,559,998 S54P probably damaging Het
Adam5 A G 8: 24,810,823 V230A probably damaging Het
Arid4b T A 13: 14,186,809 probably benign Het
Cep250 T G 2: 155,967,663 probably benign Het
Col28a1 T A 6: 8,014,540 D955V probably damaging Het
Gm7676 A G 8: 13,896,311 noncoding transcript Het
Hao1 A G 2: 134,554,200 S45P probably damaging Het
Hars2 A T 18: 36,787,592 I163L probably benign Het
Iqgap1 T C 7: 80,723,061 Y1510C possibly damaging Het
Itga4 G A 2: 79,322,634 probably null Het
Kif18b G A 11: 102,912,391 H498Y probably benign Het
Kin C T 2: 10,091,952 T204M probably benign Het
Lmo7 T C 14: 101,902,371 probably null Het
Ltbp2 G A 12: 84,794,033 T1009I probably benign Het
Mad1l1 A G 5: 140,117,277 S489P probably benign Het
Memo1 A G 17: 74,217,108 probably benign Het
Myocd T A 11: 65,200,807 H103L probably benign Het
Nhlrc2 T A 19: 56,574,787 F273I possibly damaging Het
Olfr385 C A 11: 73,589,383 M118I probably benign Het
Olfr481 A T 7: 108,081,273 T160S probably benign Het
Olfr978 T C 9: 39,994,329 I173T probably damaging Het
Pappa2 A C 1: 158,814,540 Y1315* probably null Het
Ppp2r5d A T 17: 46,687,917 V73D possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Qars C T 9: 108,511,539 T266M probably damaging Het
Slc26a2 A C 18: 61,198,260 C700G possibly damaging Het
Zfp638 C A 6: 83,947,847 A724E probably damaging Het
Other mutations in Pdzk1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Pdzk1ip1 APN 4 115092914 splice site probably benign
IGL03048:Pdzk1ip1 UTSW 4 115092984 missense probably benign 0.27
R5597:Pdzk1ip1 UTSW 4 115093492 missense probably damaging 1.00
R7030:Pdzk1ip1 UTSW 4 115092991 missense probably damaging 1.00
R7185:Pdzk1ip1 UTSW 4 115089108 missense possibly damaging 0.53
Posted On2013-12-09