Incidental Mutation 'IGL02414:Ppwd1'
ID292373
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: 0.959) question?
Stock #IGL02414
Quality Score
Status
Chromosome13
Chromosomal Location104205124-104228843 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 104223137 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 119 (I119L)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226]
Predicted Effect probably benign
Transcript: ENSMUST00000022226
AA Change: I119L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I119L

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: ENSMUST00000223755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225798
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104L09Rik T G 2: 148,850,678 K68T possibly damaging Het
Ada C T 2: 163,730,040 D273N probably benign Het
Btbd9 A C 17: 30,220,559 C551W possibly damaging Het
Casp2 T A 6: 42,280,446 L443H probably damaging Het
Cdhr3 A G 12: 33,042,504 Y703H possibly damaging Het
Clta T C 4: 44,030,274 probably benign Het
Dnah8 A G 17: 30,700,413 D1120G probably benign Het
Ece2 A G 16: 20,640,706 D597G probably damaging Het
Etfdh A G 3: 79,604,096 V526A probably damaging Het
Gm14496 T A 2: 181,991,405 D60E probably benign Het
Gpr85 A T 6: 13,836,910 probably benign Het
Hivep1 C A 13: 42,154,909 S208R probably damaging Het
Kif1b A G 4: 149,199,314 I1252T probably damaging Het
Knl1 T C 2: 119,070,323 V835A possibly damaging Het
Olfr209 C T 16: 59,361,714 C168Y probably damaging Het
Olfr710 A T 7: 106,944,758 M81K probably benign Het
Prex1 T C 2: 166,609,828 K410R probably damaging Het
Prm2 C T 16: 10,791,890 probably benign Het
Psip1 T C 4: 83,468,637 T166A probably benign Het
Rtel1 T C 2: 181,335,972 V98A probably benign Het
Sdsl G A 5: 120,462,059 T91I probably damaging Het
Tas2r136 A G 6: 132,777,531 M211T possibly damaging Het
Trim43c A T 9: 88,841,832 probably null Het
Ttc1 T C 11: 43,739,837 probably benign Het
Other mutations in Ppwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ppwd1 APN 13 104217143 missense probably damaging 1.00
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
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 On2015-04-16