Incidental Mutation 'IGL02803:Ppwd1'
ID 360307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppwd1
Ensembl Gene ENSMUSG00000021713
Gene Name peptidylprolyl isomerase domain and WD repeat containing 1
Synonyms 4632422M10Rik, A330090G21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02803
Quality Score
Status
Chromosome 13
Chromosomal Location 104341632-104365351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104350192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 398 (I398V)
Ref Sequence ENSEMBL: ENSMUSP00000022226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226]
AlphaFold Q8CEC6
Predicted Effect probably benign
Transcript: ENSMUST00000022226
AA Change: I398V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I398V

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,302,480 (GRCm39) L106F probably benign Het
Appl1 A G 14: 26,673,473 (GRCm39) I208T possibly damaging Het
Arap2 G T 5: 62,906,452 (GRCm39) A189D probably benign Het
Arhgef12 T C 9: 42,883,324 (GRCm39) K1402E possibly damaging Het
C7 A C 15: 5,079,042 (GRCm39) F89V probably damaging Het
Camsap2 G A 1: 136,208,861 (GRCm39) T877I probably damaging Het
Cpt2 T C 4: 107,764,583 (GRCm39) T394A probably benign Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnah10 C A 5: 124,875,078 (GRCm39) T2528N probably damaging Het
Entpd8 G T 2: 24,975,151 (GRCm39) W494L probably damaging Het
Fam114a1 T A 5: 65,163,135 (GRCm39) probably benign Het
Fat4 T C 3: 38,943,444 (GRCm39) V779A probably damaging Het
Gckr T C 5: 31,455,548 (GRCm39) S34P probably damaging Het
Golga4 T C 9: 118,364,528 (GRCm39) V297A probably benign Het
Gpr65 T C 12: 98,241,469 (GRCm39) S41P probably damaging Het
Gps1 G T 11: 120,677,649 (GRCm39) A221S probably damaging Het
Heatr1 T A 13: 12,448,867 (GRCm39) S1861T probably damaging Het
Hmces A G 6: 87,902,711 (GRCm39) E184G probably damaging Het
Itfg1 T C 8: 86,452,140 (GRCm39) probably null Het
Mrtfb C T 16: 13,221,020 (GRCm39) T743I possibly damaging Het
Nfe2l3 A G 6: 51,434,291 (GRCm39) S284G possibly damaging Het
Nlrp2 C A 7: 5,331,317 (GRCm39) A360S probably damaging Het
Nop9 A G 14: 55,987,533 (GRCm39) H298R probably benign Het
Or5an1 A T 19: 12,261,347 (GRCm39) S312C possibly damaging Het
Or5h17 T A 16: 58,820,321 (GRCm39) V91E probably benign Het
Or6ae1 T C 7: 139,742,287 (GRCm39) D192G possibly damaging Het
Osgin1 A G 8: 120,170,006 (GRCm39) M158V probably benign Het
Patj C A 4: 98,314,301 (GRCm39) Q374K probably damaging Het
Pck1 G T 2: 172,997,797 (GRCm39) G289W probably damaging Het
Phkg1 T G 5: 129,894,895 (GRCm39) I219L possibly damaging Het
Ppp1r15b G A 1: 133,061,081 (GRCm39) A533T probably damaging Het
Prkdc A G 16: 15,651,530 (GRCm39) probably benign Het
Psg25 G A 7: 18,260,212 (GRCm39) L229F possibly damaging Het
Rps6ka1 T A 4: 133,608,265 (GRCm39) Q24L probably benign Het
Sgk3 T C 1: 9,949,273 (GRCm39) I147T possibly damaging Het
Slc25a24 T A 3: 109,062,387 (GRCm39) I159N probably damaging Het
Slc26a4 T C 12: 31,572,526 (GRCm39) probably null Het
Slc35f4 T C 14: 49,541,714 (GRCm39) I347V probably benign Het
Spag17 A T 3: 100,016,713 (GRCm39) M2163L probably benign Het
Stab2 C T 10: 86,786,133 (GRCm39) probably benign Het
Sult2a8 G A 7: 14,145,630 (GRCm39) probably benign Het
Syne2 T C 12: 76,078,320 (GRCm39) L4718P probably damaging Het
Timd4 G T 11: 46,706,521 (GRCm39) G108W probably damaging Het
Timm9 T C 12: 71,173,148 (GRCm39) probably benign Het
Vmn2r98 G A 17: 19,286,275 (GRCm39) V258I probably benign Het
Zcchc9 C T 13: 91,949,000 (GRCm39) V174I probably benign Het
Zdbf2 T C 1: 63,342,236 (GRCm39) V205A possibly damaging Het
Other mutations in Ppwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ppwd1 APN 13 104,353,651 (GRCm39) missense probably damaging 1.00
IGL01582:Ppwd1 APN 13 104,350,212 (GRCm39) missense probably benign 0.01
IGL01697:Ppwd1 APN 13 104,356,972 (GRCm39) missense probably benign 0.01
IGL01771:Ppwd1 APN 13 104,353,624 (GRCm39) missense probably damaging 1.00
IGL02414:Ppwd1 APN 13 104,359,645 (GRCm39) missense probably benign
IGL02873:Ppwd1 APN 13 104,346,261 (GRCm39) missense probably damaging 1.00
F5770:Ppwd1 UTSW 13 104,356,745 (GRCm39) missense probably damaging 0.98
R0462:Ppwd1 UTSW 13 104,359,468 (GRCm39) critical splice acceptor site probably null
R1638:Ppwd1 UTSW 13 104,356,771 (GRCm39) missense probably damaging 1.00
R2211:Ppwd1 UTSW 13 104,343,650 (GRCm39) missense probably benign 0.26
R2226:Ppwd1 UTSW 13 104,353,753 (GRCm39) missense probably damaging 1.00
R2299:Ppwd1 UTSW 13 104,356,571 (GRCm39) missense probably benign
R2353:Ppwd1 UTSW 13 104,350,090 (GRCm39) missense probably benign
R2382:Ppwd1 UTSW 13 104,343,621 (GRCm39) missense probably damaging 1.00
R3123:Ppwd1 UTSW 13 104,350,198 (GRCm39) missense possibly damaging 0.90
R4521:Ppwd1 UTSW 13 104,346,167 (GRCm39) missense probably benign 0.16
R4972:Ppwd1 UTSW 13 104,356,616 (GRCm39) missense probably benign 0.00
R5125:Ppwd1 UTSW 13 104,356,943 (GRCm39) missense probably benign 0.14
R5178:Ppwd1 UTSW 13 104,356,943 (GRCm39) missense probably benign 0.14
R5468:Ppwd1 UTSW 13 104,361,952 (GRCm39) missense possibly damaging 0.52
R5638:Ppwd1 UTSW 13 104,356,906 (GRCm39) missense probably damaging 1.00
R6748:Ppwd1 UTSW 13 104,344,538 (GRCm39) nonsense probably null
R7095:Ppwd1 UTSW 13 104,342,134 (GRCm39) missense probably benign 0.21
R7201:Ppwd1 UTSW 13 104,343,680 (GRCm39) missense probably damaging 1.00
R7206:Ppwd1 UTSW 13 104,350,106 (GRCm39) missense probably damaging 0.99
R7664:Ppwd1 UTSW 13 104,356,798 (GRCm39) missense probably damaging 1.00
R7746:Ppwd1 UTSW 13 104,353,714 (GRCm39) missense probably damaging 1.00
R9259:Ppwd1 UTSW 13 104,359,612 (GRCm39) missense probably damaging 1.00
R9354:Ppwd1 UTSW 13 104,342,080 (GRCm39) missense probably benign 0.00
R9408:Ppwd1 UTSW 13 104,346,155 (GRCm39) missense possibly damaging 0.74
V7580:Ppwd1 UTSW 13 104,356,745 (GRCm39) missense probably damaging 0.98
V7581:Ppwd1 UTSW 13 104,356,745 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18