Incidental Mutation 'IGL02409:Ppil4'
ID292245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppil4
Ensembl Gene ENSMUSG00000015757
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 4
Synonyms3732410E19Rik, 3830425H19Rik, PPIase
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.942) question?
Stock #IGL02409
Quality Score
Status
Chromosome10
Chromosomal Location7792891-7823135 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 7798564 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015901] [ENSMUST00000143214]
Predicted Effect probably benign
Transcript: ENSMUST00000015901
SMART Domains Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 161 6.4e-40 PFAM
low complexity region 205 218 N/A INTRINSIC
RRM 241 314 1.49e-22 SMART
low complexity region 321 333 N/A INTRINSIC
low complexity region 374 389 N/A INTRINSIC
low complexity region 435 449 N/A INTRINSIC
low complexity region 467 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138151
Predicted Effect probably benign
Transcript: ENSMUST00000143214
SMART Domains Protein: ENSMUSP00000119332
Gene: ENSMUSG00000015757

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 67 1.8e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Elavl1 A T 8: 4,289,838 I248N possibly damaging Het
Fam120a A G 13: 48,967,359 V157A probably benign Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr1215 C T 2: 89,001,910 C126Y possibly damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tbc1d2b C T 9: 90,222,352 S579N probably benign Het
Tdrkh T A 3: 94,430,612 probably benign Het
Thumpd2 A T 17: 81,032,688 F377L probably damaging Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Tnfrsf23 A T 7: 143,668,571 L168Q probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Ppil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Ppil4 APN 10 7820984 nonsense probably null
R0105:Ppil4 UTSW 10 7798446 missense probably damaging 1.00
R0105:Ppil4 UTSW 10 7798446 missense probably damaging 1.00
R1056:Ppil4 UTSW 10 7799632 missense possibly damaging 0.93
R1743:Ppil4 UTSW 10 7807381 missense probably damaging 1.00
R1776:Ppil4 UTSW 10 7810437 missense probably benign 0.25
R3743:Ppil4 UTSW 10 7821171 missense unknown
R3747:Ppil4 UTSW 10 7814693 missense probably benign 0.07
R5634:Ppil4 UTSW 10 7814778 missense probably benign
R5685:Ppil4 UTSW 10 7798422 missense probably damaging 1.00
R5820:Ppil4 UTSW 10 7810410 missense probably null 0.13
R6546:Ppil4 UTSW 10 7798422 missense probably damaging 1.00
R8221:Ppil4 UTSW 10 7795680 missense probably benign 0.32
Posted On2015-04-16