Incidental Mutation 'IGL02504:Ppil4'
ID 296234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppil4
Ensembl Gene ENSMUSG00000015757
Gene Name peptidylprolyl isomerase (cyclophilin)-like 4
Synonyms 3732410E19Rik, 3830425H19Rik, PPIase
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # IGL02504
Quality Score
Status
Chromosome 10
Chromosomal Location 7668653-7698329 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 7696748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 420 (Y420*)
Ref Sequence ENSEMBL: ENSMUSP00000015901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015901]
AlphaFold Q9CXG3
Predicted Effect probably null
Transcript: ENSMUST00000015901
AA Change: Y420*
SMART Domains Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757
AA Change: Y420*

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,411,232 (GRCm39) N142I probably benign Het
Asf1b A G 8: 84,682,458 (GRCm39) M1V probably null Het
Astn1 T C 1: 158,329,978 (GRCm39) C278R probably damaging Het
Ccdc162 A T 10: 41,428,384 (GRCm39) L692Q probably damaging Het
Cd207 T A 6: 83,654,788 (GRCm39) probably benign Het
Chd5 T A 4: 152,447,779 (GRCm39) N548K probably damaging Het
Col7a1 G A 9: 108,809,743 (GRCm39) G2659D unknown Het
Cpa6 A T 1: 10,559,144 (GRCm39) Y75N probably benign Het
Cspg4 G T 9: 56,793,056 (GRCm39) V264L probably benign Het
Cyp3a25 T A 5: 145,930,141 (GRCm39) I155L probably benign Het
Dock6 A G 9: 21,757,951 (GRCm39) I51T probably benign Het
Dse G T 10: 34,028,796 (GRCm39) Q765K probably benign Het
Fam219b A T 9: 57,445,351 (GRCm39) M87L probably benign Het
Fat3 G A 9: 15,871,094 (GRCm39) R3766C probably damaging Het
Fcnb A C 2: 27,966,606 (GRCm39) M309R probably damaging Het
Fnbp4 C A 2: 90,598,887 (GRCm39) N670K probably damaging Het
Fsip2 T A 2: 82,809,199 (GRCm39) N1839K possibly damaging Het
G6pc2 A G 2: 69,056,939 (GRCm39) H195R probably damaging Het
Gm14179 A T 11: 99,634,003 (GRCm39) Het
Grm5 A G 7: 87,779,980 (GRCm39) N1172S probably benign Het
Hsd17b14 A G 7: 45,205,799 (GRCm39) T64A possibly damaging Het
Hspb7 G T 4: 141,149,131 (GRCm39) E12D probably benign Het
Kdm2a T C 19: 4,406,799 (GRCm39) N155D possibly damaging Het
Klhl24 A T 16: 19,934,693 (GRCm39) R389* probably null Het
Kmt2b A G 7: 30,285,968 (GRCm39) probably benign Het
Krt4 T A 15: 101,827,727 (GRCm39) I469F unknown Het
Mto1 A T 9: 78,368,209 (GRCm39) D451V probably damaging Het
Muc5b A T 7: 141,400,177 (GRCm39) D477V unknown Het
Pcsk5 A G 19: 17,455,236 (GRCm39) probably null Het
Ppp2r5d A T 17: 47,011,019 (GRCm39) D27E probably benign Het
Prkd2 T C 7: 16,591,757 (GRCm39) L596P probably damaging Het
Prr30 T C 14: 101,436,056 (GRCm39) I169V probably benign Het
Rtl9 A T X: 141,885,287 (GRCm39) T900S probably benign Het
Sash1 A G 10: 8,605,676 (GRCm39) S905P probably benign Het
Scn2a G A 2: 65,514,228 (GRCm39) G304D probably benign Het
Scp2d1 T C 2: 144,665,877 (GRCm39) L72P probably damaging Het
Septin2 T A 1: 93,428,203 (GRCm39) H166Q probably benign Het
Sgcb A G 5: 73,801,718 (GRCm39) I49T probably damaging Het
Smyd4 T A 11: 75,281,507 (GRCm39) W327R probably damaging Het
Sptbn1 C T 11: 30,092,293 (GRCm39) E491K probably damaging Het
Tcaf1 A T 6: 42,656,213 (GRCm39) H254Q probably benign Het
Tll1 A C 8: 64,523,271 (GRCm39) D480E possibly damaging Het
Tlr3 G A 8: 45,850,944 (GRCm39) T127M probably damaging Het
Trio A T 15: 27,847,476 (GRCm39) C929* probably null Het
Ttn C T 2: 76,628,494 (GRCm39) W12809* probably null Het
Ugt2b35 T A 5: 87,149,400 (GRCm39) M217K possibly damaging Het
Unc13b T C 4: 43,263,031 (GRCm39) V4261A probably damaging Het
Uqcrc2 T C 7: 120,242,254 (GRCm39) I82T probably benign Het
Usp21 A G 1: 171,112,596 (GRCm39) I266T probably benign Het
Veph1 A T 3: 66,079,551 (GRCm39) H321Q probably damaging Het
Vmn1r29 A C 6: 58,284,655 (GRCm39) Y125S probably benign Het
Other mutations in Ppil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02409:Ppil4 APN 10 7,674,328 (GRCm39) intron probably benign
R0105:Ppil4 UTSW 10 7,674,210 (GRCm39) missense probably damaging 1.00
R0105:Ppil4 UTSW 10 7,674,210 (GRCm39) missense probably damaging 1.00
R1056:Ppil4 UTSW 10 7,675,396 (GRCm39) missense possibly damaging 0.93
R1743:Ppil4 UTSW 10 7,683,145 (GRCm39) missense probably damaging 1.00
R1776:Ppil4 UTSW 10 7,686,201 (GRCm39) missense probably benign 0.25
R3743:Ppil4 UTSW 10 7,696,935 (GRCm39) missense unknown
R3747:Ppil4 UTSW 10 7,690,457 (GRCm39) missense probably benign 0.07
R5634:Ppil4 UTSW 10 7,690,542 (GRCm39) missense probably benign
R5685:Ppil4 UTSW 10 7,674,186 (GRCm39) missense probably damaging 1.00
R5820:Ppil4 UTSW 10 7,686,174 (GRCm39) missense probably null 0.13
R6546:Ppil4 UTSW 10 7,674,186 (GRCm39) missense probably damaging 1.00
R8221:Ppil4 UTSW 10 7,671,444 (GRCm39) missense probably benign 0.32
R9495:Ppil4 UTSW 10 7,675,355 (GRCm39) missense probably damaging 1.00
R9698:Ppil4 UTSW 10 7,683,033 (GRCm39) critical splice acceptor site probably null
R9709:Ppil4 UTSW 10 7,675,341 (GRCm39) missense probably benign 0.39
Posted On 2015-04-16