Incidental Mutation 'IGL00321:Ppwd1'
ID13699
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 #IGL00321
Quality Score
Status
Chromosome13
Chromosomal Location104205124-104228843 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104217143 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 369 (F369S)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226]
Predicted Effect probably damaging
Transcript: ENSMUST00000022226
AA Change: F369S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: F369S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225798
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 A G 8: 40,826,746 R725G possibly damaging Het
Arid2 A G 15: 96,289,089 E74G probably damaging Het
Carf T A 1: 60,124,842 probably benign Het
Cit A T 5: 115,846,465 Q32L probably damaging Het
Dennd4b A G 3: 90,271,207 T526A possibly damaging Het
Dnhd1 A G 7: 105,677,995 E717G probably damaging Het
Ercc6 T A 14: 32,568,072 I968N probably damaging Het
Fcrl1 A T 3: 87,389,635 Y297F probably damaging Het
Gas2l3 A G 10: 89,413,627 L543P probably benign Het
Gm5346 A G 8: 43,625,381 I602T probably benign Het
Hid1 A T 11: 115,359,069 D84E probably benign Het
Ifit1bl2 C T 19: 34,619,919 S99N probably benign Het
Kpna3 A G 14: 61,391,853 probably benign Het
Myadm C A 7: 3,297,223 P167Q possibly damaging Het
Ociad1 C T 5: 73,304,543 probably benign Het
Olfr224 A C 11: 58,566,767 Y193D probably damaging Het
Pcdh11x A T X: 120,592,568 K1029N probably benign Het
Pcdhb11 A G 18: 37,421,973 T119A probably benign Het
Phldb2 T C 16: 45,772,254 R926G probably damaging Het
Rreb1 T A 13: 37,916,496 M201K probably benign Het
Ryr1 A T 7: 29,102,810 I795N probably damaging Het
Slc3a1 T C 17: 85,060,833 W510R probably damaging Het
Slc44a5 T C 3: 154,262,939 L589P probably damaging Het
Tfr2 A G 5: 137,574,455 D176G probably null Het
Tom1 T A 8: 75,052,174 S24T probably benign Het
Vmn2r66 T A 7: 85,007,091 Q239L probably benign Het
Ythdc2 A G 18: 44,859,973 T149A probably benign Het
Zc3h3 A G 15: 75,779,313 I686T probably damaging Het
Other mutations in Ppwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01582:Ppwd1 APN 13 104213704 missense probably benign 0.01
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 On2012-12-06