Incidental Mutation 'IGL02409:Ppil4'
ID 292245
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: 0.922) question?
Stock # IGL02409
Quality Score
Status
Chromosome 10
Chromosomal Location 7668653-7698329 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 7674328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015901] [ENSMUST00000143214]
AlphaFold Q9CXG3
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: 15,532,782 (GRCm39) M104L probably benign Het
Cdkn1a T C 17: 29,317,428 (GRCm39) V16A probably benign Het
Celsr2 C A 3: 108,321,271 (GRCm39) V514F probably damaging Het
Cmklr2 T A 1: 63,222,875 (GRCm39) N120I probably damaging Het
Cmya5 T C 13: 93,226,706 (GRCm39) N2794S probably damaging Het
Dnmt1 T C 9: 20,837,793 (GRCm39) T281A probably benign Het
Dock2 A T 11: 34,451,204 (GRCm39) N840K probably benign Het
Dscam T C 16: 96,621,088 (GRCm39) N540S possibly damaging Het
Elavl1 A T 8: 4,339,838 (GRCm39) I248N possibly damaging Het
Fam120a A G 13: 49,120,835 (GRCm39) V157A probably benign Het
Fcrl2 G A 3: 87,160,030 (GRCm39) P408L probably benign Het
Grin2b T A 6: 136,020,906 (GRCm39) M132L possibly damaging Het
Herc2 T A 7: 55,870,217 (GRCm39) probably null Het
Lrp1b T G 2: 41,335,208 (GRCm39) K778T possibly damaging Het
Mapk10 T A 5: 103,076,096 (GRCm39) E389D possibly damaging Het
Ms4a7 G T 19: 11,301,807 (GRCm39) Y62* probably null Het
Muc5b A G 7: 141,415,075 (GRCm39) T2674A possibly damaging Het
Nbeal1 T C 1: 60,368,494 (GRCm39) L2613P probably benign Het
Ncapg2 A T 12: 116,384,337 (GRCm39) Y266F probably damaging Het
Or10a3m A G 7: 108,313,366 (GRCm39) I269V probably benign Het
Or14j6 T C 17: 38,214,679 (GRCm39) Y81H probably damaging Het
Or1j14 T A 2: 36,418,165 (GRCm39) V247E probably damaging Het
Or4c110 C T 2: 88,832,254 (GRCm39) C126Y possibly damaging Het
Pkd1 T A 17: 24,792,597 (GRCm39) I1428N probably benign Het
Rev3l T C 10: 39,697,144 (GRCm39) V547A possibly damaging Het
Rgsl1 T C 1: 153,701,989 (GRCm39) K155R possibly damaging Het
Skap2 T C 6: 51,884,938 (GRCm39) D234G possibly damaging Het
Sult2a4 C T 7: 13,718,844 (GRCm39) W133* probably null Het
Tbc1d2b C T 9: 90,104,405 (GRCm39) S579N probably benign Het
Tdrkh T A 3: 94,337,919 (GRCm39) probably benign Het
Thumpd2 A T 17: 81,340,117 (GRCm39) F377L probably damaging Het
Tmem132d T C 5: 127,861,952 (GRCm39) D723G probably damaging Het
Tnfrsf23 A T 7: 143,222,308 (GRCm39) L168Q probably damaging Het
Ttn T C 2: 76,784,974 (GRCm39) T818A unknown Het
Uox A T 3: 146,330,381 (GRCm39) D130V probably benign Het
Vmn2r45 T C 7: 8,488,727 (GRCm39) Y101C probably benign Het
Wdr1 C T 5: 38,688,453 (GRCm39) D161N probably benign Het
Other mutations in Ppil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Ppil4 APN 10 7,696,748 (GRCm39) nonsense probably null
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