Incidental Mutation 'IGL01582:Ppwd1'
ID91393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppwd1
Ensembl Gene ENSMUSG00000021713
Gene Namepeptidylprolyl isomerase domain and WD repeat containing 1
Synonyms4632422M10Rik, A330090G21Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL01582
Quality Score
Status
Chromosome13
Chromosomal Location104205124-104228843 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104213704 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 391 (I391T)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226]
Predicted Effect probably benign
Transcript: ENSMUST00000022226
AA Change: I391T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I391T

DomainStartEndE-ValueType
WD40 80 117 2.96e-2 SMART
WD40 122 161 8.49e-3 SMART
Blast:WD40 164 207 9e-6 BLAST
WD40 211 251 2.76e0 SMART
WD40 269 308 1.4e-3 SMART
Blast:WD40 343 382 2e-6 BLAST
Blast:WD40 433 460 3e-7 BLAST
Pfam:Pro_isomerase 493 645 1.9e-52 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurkb G A 11: 69,048,779 V201I probably damaging Het
Csmd2 G T 4: 128,563,305 E212* probably null Het
Dsg1a G T 18: 20,328,848 K335N probably null Het
Epn2 A G 11: 61,521,869 S430P probably benign Het
Ezh2 A T 6: 47,556,055 Y144* probably null Het
Fcgbp G T 7: 28,093,642 D1024Y probably benign Het
Gm8906 A G 5: 11,505,273 T70A probably benign Het
Gramd3 A G 18: 56,485,416 E232G probably damaging Het
Inf2 A G 12: 112,610,559 K989R unknown Het
Lrpprc G A 17: 84,754,543 A577V probably null Het
Mansc1 T A 6: 134,621,873 N27I possibly damaging Het
Nr1i3 A T 1: 171,214,972 I56F possibly damaging Het
Ntpcr T C 8: 125,745,242 S64P probably benign Het
Olfr603 A T 7: 103,383,599 Y134* probably null Het
Serpinb3d A G 1: 107,079,666 F197L probably damaging Het
Siglecf A G 7: 43,358,721 N553D possibly damaging Het
Slc2a2 A G 3: 28,708,488 D60G probably benign Het
Spsb4 T G 9: 96,996,090 D60A probably damaging Het
Tnnt1 T C 7: 4,509,983 E100G probably damaging Het
Zmiz1 T C 14: 25,658,230 M938T probably benign Het
Other mutations in Ppwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ppwd1 APN 13 104217143 missense probably damaging 1.00
IGL01697:Ppwd1 APN 13 104220464 missense probably benign 0.01
IGL01771:Ppwd1 APN 13 104217116 missense probably damaging 1.00
IGL02414:Ppwd1 APN 13 104223137 missense probably benign
IGL02803:Ppwd1 APN 13 104213684 missense probably benign 0.00
IGL02873:Ppwd1 APN 13 104209753 missense probably damaging 1.00
F5770:Ppwd1 UTSW 13 104220237 missense probably damaging 0.98
R0462:Ppwd1 UTSW 13 104222960 critical splice acceptor site probably null
R1638:Ppwd1 UTSW 13 104220263 missense probably damaging 1.00
R2211:Ppwd1 UTSW 13 104207142 missense probably benign 0.26
R2226:Ppwd1 UTSW 13 104217245 missense probably damaging 1.00
R2299:Ppwd1 UTSW 13 104220063 missense probably benign
R2353:Ppwd1 UTSW 13 104213582 missense probably benign
R2382:Ppwd1 UTSW 13 104207113 missense probably damaging 1.00
R3123:Ppwd1 UTSW 13 104213690 missense possibly damaging 0.90
R4521:Ppwd1 UTSW 13 104209659 missense probably benign 0.16
R4972:Ppwd1 UTSW 13 104220108 missense probably benign 0.00
R5125:Ppwd1 UTSW 13 104220435 missense probably benign 0.14
R5178:Ppwd1 UTSW 13 104220435 missense probably benign 0.14
R5468:Ppwd1 UTSW 13 104225444 missense possibly damaging 0.52
R5638:Ppwd1 UTSW 13 104220398 missense probably damaging 1.00
R6748:Ppwd1 UTSW 13 104208030 nonsense probably null
R7095:Ppwd1 UTSW 13 104205626 missense probably benign 0.21
R7201:Ppwd1 UTSW 13 104207172 missense probably damaging 1.00
R7206:Ppwd1 UTSW 13 104213598 missense probably damaging 0.99
V7580:Ppwd1 UTSW 13 104220237 missense probably damaging 0.98
V7581:Ppwd1 UTSW 13 104220237 missense probably damaging 0.98
Posted On2013-12-09