Incidental Mutation 'IGL00839:Pi15'
ID13000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi15
Ensembl Gene ENSMUSG00000067780
Gene Namepeptidase inhibitor 15
SynonymsP25TI, SugarCrisp, P24TI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00839
Quality Score
Status
Chromosome1
Chromosomal Location17601901-17630939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17621523 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 183 (H183R)
Ref Sequence ENSEMBL: ENSMUSP00000085826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088476]
Predicted Effect probably damaging
Transcript: ENSMUST00000088476
AA Change: H183R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085826
Gene: ENSMUSG00000067780
AA Change: H183R

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
SCP 76 230 9.32e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186267
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 encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,660,916 S1031T probably benign Het
a T A 2: 155,045,673 F18I probably benign Het
Acsl4 A T X: 142,339,952 N421K possibly damaging Het
Ampd1 A G 3: 103,099,694 E745G possibly damaging Het
Ankrd44 T C 1: 54,667,435 N436D probably benign Het
Ap1s2 A G X: 163,926,955 Y160C probably damaging Het
Bms1 C T 6: 118,405,291 V429M probably benign Het
Cep57l1 T C 10: 41,731,093 E158G probably damaging Het
Cldn34b4 T A X: 76,397,349 C71S probably damaging Het
Col1a2 C T 6: 4,531,095 probably benign Het
Crisp3 T G 17: 40,239,256 probably null Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Defa24 T A 8: 21,734,697 L54H probably damaging Het
Dennd1a A G 2: 37,816,982 V504A probably benign Het
Eloa G A 4: 136,011,359 R97C probably damaging Het
Espl1 T C 15: 102,320,547 probably benign Het
Fgb T A 3: 83,043,291 R385S possibly damaging Het
Glod4 T A 11: 76,233,278 H223L probably benign Het
Gm13084 T C 4: 143,812,723 T67A probably benign Het
Hrh1 C T 6: 114,480,322 T188I probably damaging Het
Hsph1 G T 5: 149,618,454 A769D possibly damaging Het
Jak2 C T 19: 29,301,647 P933S probably damaging Het
Lrrd1 T A 5: 3,850,017 D107E probably benign Het
Osbpl8 T A 10: 111,291,510 S776R probably benign Het
Pcna C T 2: 132,251,420 V136I probably benign Het
Pde11a A G 2: 76,215,385 F365S probably damaging Het
Plce1 A G 19: 38,698,562 Y638C probably damaging Het
Pnpla6 A G 8: 3,542,299 D1196G probably benign Het
Psg22 A G 7: 18,722,968 I220V probably benign Het
Rap1gap2 A T 11: 74,437,448 Y97N probably damaging Het
Taf2 A T 15: 55,045,778 C690* probably null Het
Taf3 A T 2: 9,952,917 D146E probably damaging Het
Tnrc6c A G 11: 117,714,185 T49A possibly damaging Het
Trdn T C 10: 33,471,606 probably null Het
Ttc29 C T 8: 78,333,756 T435I probably benign Het
Vps37b T C 5: 124,010,751 T74A possibly damaging Het
Zbtb11 T A 16: 56,000,602 Y687* probably null Het
Other mutations in Pi15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Pi15 APN 1 17621540 splice site probably benign
IGL03388:Pi15 APN 1 17602777 missense probably benign
R0554:Pi15 UTSW 1 17621648 missense probably benign 0.06
R0578:Pi15 UTSW 1 17602849 nonsense probably null
R1524:Pi15 UTSW 1 17619852 missense probably benign 0.01
R1665:Pi15 UTSW 1 17621502 missense probably damaging 1.00
R1791:Pi15 UTSW 1 17602721 missense probably benign 0.02
R4767:Pi15 UTSW 1 17602766 missense probably benign
R7804:Pi15 UTSW 1 17624913 nonsense probably null
R7850:Pi15 UTSW 1 17602881 nonsense probably null
R7933:Pi15 UTSW 1 17602881 nonsense probably null
Posted On2012-12-06