Incidental Mutation 'R0105:Ppil4'
ID17463
Institutional Source Beutler Lab
Gene Symbol Ppil4
Ensembl Gene ENSMUSG00000015757
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 4
Synonyms3732410E19Rik, 3830425H19Rik, PPIase
MMRRC Submission 038391-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.913) question?
Stock #R0105 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location7792891-7823135 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7798446 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 118 (Y118C)
Ref Sequence ENSEMBL: ENSMUSP00000015901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015901] [ENSMUST00000143214]
Predicted Effect probably damaging
Transcript: ENSMUST00000015901
AA Change: Y118C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757
AA Change: Y118C

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
Meta Mutation Damage Score 0.29 question?
Coding Region Coverage
  • 1x: 85.3%
  • 3x: 77.7%
  • 10x: 47.9%
  • 20x: 15.1%
Validation Efficiency 96% (53/55)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,187,392 V698D probably benign Het
A530053G22Rik T C 6: 60,402,152 noncoding transcript Het
Adcy9 A G 16: 4,288,388 V954A probably damaging Het
Aldh8a1 T A 10: 21,395,539 M388K probably damaging Het
Cdsn A C 17: 35,556,138 R521S possibly damaging Het
Cog3 A G 14: 75,722,140 S591P probably damaging Het
Crmp1 T A 5: 37,284,135 D520E probably damaging Het
Ddhd1 T C 14: 45,610,690 D507G probably benign Het
Dnah6 C T 6: 73,155,279 A1147T probably damaging Het
Dsg2 T C 18: 20,602,054 S1030P probably benign Het
Fam20b T C 1: 156,690,570 E218G probably damaging Het
Gab2 T C 7: 97,299,072 Y290H probably damaging Het
Gm973 A G 1: 59,582,474 Q591R probably null Het
Gsdmc2 T C 15: 63,828,177 T249A probably benign Het
Il15ra T A 2: 11,730,648 probably null Het
Isy1 G A 6: 87,819,185 R257W probably damaging Het
Krt76 T C 15: 101,884,912 T564A unknown Het
Lrrk1 G T 7: 66,292,341 D716E probably damaging Het
Mogat1 A G 1: 78,523,670 T124A probably benign Het
Mroh7 T C 4: 106,711,270 T48A possibly damaging Het
Olfr1243 T C 2: 89,528,363 T16A probably benign Het
Pkhd1 G A 1: 20,523,732 Q1386* probably null Het
Pla2r1 T C 2: 60,514,981 R344G possibly damaging Het
Plekhg4 G A 8: 105,382,012 V1202M possibly damaging Het
Ptpn4 C T 1: 119,687,605 probably null Het
Reln G A 5: 22,048,815 R600W probably damaging Het
Sumf2 T A 5: 129,849,894 probably benign Het
Tex10 C A 4: 48,468,957 V73F probably damaging Het
Tgm5 C A 2: 121,077,012 G77W probably damaging Het
Tnfrsf21 T A 17: 43,040,191 probably null Het
Treml2 C T 17: 48,302,828 T96I probably damaging Het
Zcchc17 T A 4: 130,349,306 D28V probably benign Het
Zkscan6 T A 11: 65,821,985 L248Q probably damaging Het
Other mutations in Ppil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02409:Ppil4 APN 10 7798564 intron probably benign
IGL02504:Ppil4 APN 10 7820984 nonsense probably null
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
Posted On2013-01-31