Incidental Mutation 'IGL02006:Ppih'
ID 183211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppih
Ensembl Gene ENSMUSG00000060288
Gene Name peptidyl prolyl isomerase H
Synonyms D4Wsu43e, 4833408F11Rik, rotamase H, 2010111B15Rik, cyclophilin H, 1100001J08Rik, CYP-20
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # IGL02006
Quality Score
Status
Chromosome 4
Chromosomal Location 119157207-119177720 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 119168779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056458] [ENSMUST00000106317] [ENSMUST00000106318] [ENSMUST00000106319] [ENSMUST00000106321] [ENSMUST00000147077]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056458
SMART Domains Protein: ENSMUSP00000051221
Gene: ENSMUSG00000060288

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106317
SMART Domains Protein: ENSMUSP00000101924
Gene: ENSMUSG00000060288

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 170 2.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106318
SMART Domains Protein: ENSMUSP00000101925
Gene: ENSMUSG00000060288

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106319
SMART Domains Protein: ENSMUSP00000101926
Gene: ENSMUSG00000060288

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 132 8.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106321
SMART Domains Protein: ENSMUSP00000101928
Gene: ENSMUSG00000060288

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147077
SMART Domains Protein: ENSMUSP00000118407
Gene: ENSMUSG00000060288

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 157 2.9e-48 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,117,582 (GRCm39) G182S probably damaging Het
Akr1b7 A T 6: 34,392,385 (GRCm39) N66I probably benign Het
Arrdc3 T A 13: 81,031,893 (GRCm39) I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 (GRCm39) A316E probably damaging Het
Atp8a2 A G 14: 60,094,497 (GRCm39) V847A possibly damaging Het
Ccdc171 A G 4: 83,713,479 (GRCm39) N1173D possibly damaging Het
Crb2 A C 2: 37,676,475 (GRCm39) D152A probably damaging Het
Ecm1 T C 3: 95,641,557 (GRCm39) E559G probably damaging Het
Ephb1 A G 9: 102,071,971 (GRCm39) probably null Het
Fndc11 C A 2: 180,863,884 (GRCm39) R230S probably damaging Het
Frem1 A G 4: 82,911,037 (GRCm39) probably null Het
Fyco1 G A 9: 123,658,896 (GRCm39) Q427* probably null Het
Gm17541 A G 12: 4,739,619 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,330 (GRCm39) V809M probably damaging Het
Gm7293 A G 9: 51,534,043 (GRCm39) noncoding transcript Het
Ift52 T C 2: 162,865,289 (GRCm39) S47P probably benign Het
Iqcf6 A G 9: 106,504,510 (GRCm39) D58G probably benign Het
Itm2b T C 14: 73,600,488 (GRCm39) probably benign Het
Jakmip1 T C 5: 37,278,331 (GRCm39) I536T probably damaging Het
Kcnh1 T G 1: 191,873,323 (GRCm39) M3R possibly damaging Het
Kcnh5 G T 12: 74,944,322 (GRCm39) P976T probably damaging Het
Layn G A 9: 50,968,591 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,347,317 (GRCm39) Q3126L probably damaging Het
Meioc A T 11: 102,565,092 (GRCm39) D180V probably damaging Het
Myo15a T A 11: 60,401,954 (GRCm39) C3066S probably damaging Het
Nbeal1 T C 1: 60,311,418 (GRCm39) probably null Het
Negr1 T C 3: 156,721,810 (GRCm39) probably benign Het
Nek1 T A 8: 61,557,226 (GRCm39) N940K probably benign Het
Nfkbib A T 7: 28,465,667 (GRCm39) probably null Het
Nol4 T A 18: 23,054,975 (GRCm39) T152S probably damaging Het
Oas3 G T 5: 120,907,300 (GRCm39) R446S probably benign Het
Oosp3 C T 19: 11,676,784 (GRCm39) L48F probably damaging Het
Or2r3 A G 6: 42,449,025 (GRCm39) V29A probably benign Het
Or2w25 T C 11: 59,503,985 (GRCm39) L65P probably damaging Het
Pik3ap1 C A 19: 41,291,032 (GRCm39) W500L probably benign Het
Ro60 G T 1: 143,636,084 (GRCm39) probably benign Het
Slc7a15 T C 12: 8,585,508 (GRCm39) probably null Het
Srl T C 16: 4,315,150 (GRCm39) E164G probably benign Het
Tbx10 C A 19: 4,048,186 (GRCm39) T237K probably damaging Het
Vwa5b2 T C 16: 20,415,843 (GRCm39) V392A probably damaging Het
Wfdc5 A T 2: 164,024,483 (GRCm39) probably benign Het
Xirp2 T C 2: 67,342,306 (GRCm39) F1516L possibly damaging Het
Znfx1 A G 2: 166,897,683 (GRCm39) C414R probably damaging Het
Other mutations in Ppih
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0005:Ppih UTSW 4 119,175,798 (GRCm39) splice site probably benign
R1625:Ppih UTSW 4 119,175,779 (GRCm39) missense probably damaging 1.00
R4493:Ppih UTSW 4 119,168,042 (GRCm39) missense probably damaging 0.99
R4539:Ppih UTSW 4 119,177,656 (GRCm39) missense probably benign 0.31
R7883:Ppih UTSW 4 119,167,987 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07