Incidental Mutation 'IGL00839:Pi15'
ID 13000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi15
Ensembl Gene ENSMUSG00000067780
Gene Name peptidase inhibitor 15
Synonyms P25TI, P24TI, SugarCrisp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00839
Quality Score
Status
Chromosome 1
Chromosomal Location 17672125-17701163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17691747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 183 (H183R)
Ref Sequence ENSEMBL: ENSMUSP00000085826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088476]
AlphaFold no structure available at present
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: 32,382,873 (GRCm39) S1031T probably benign Het
a T A 2: 154,887,593 (GRCm39) F18I probably benign Het
Acsl4 A T X: 141,122,948 (GRCm39) N421K possibly damaging Het
Ampd1 A G 3: 103,007,010 (GRCm39) E745G possibly damaging Het
Ankrd44 T C 1: 54,706,594 (GRCm39) N436D probably benign Het
Ap1s2 A G X: 162,709,951 (GRCm39) Y160C probably damaging Het
Bms1 C T 6: 118,382,252 (GRCm39) V429M probably benign Het
Cep57l1 T C 10: 41,607,089 (GRCm39) E158G probably damaging Het
Cldn34b4 T A X: 75,440,955 (GRCm39) C71S probably damaging Het
Col1a2 C T 6: 4,531,095 (GRCm39) probably benign Het
Crisp3 T G 17: 40,550,147 (GRCm39) probably null Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Defa24 T A 8: 22,224,713 (GRCm39) L54H probably damaging Het
Dennd1a A G 2: 37,706,994 (GRCm39) V504A probably benign Het
Eloa G A 4: 135,738,670 (GRCm39) R97C probably damaging Het
Espl1 T C 15: 102,228,982 (GRCm39) probably benign Het
Fgb T A 3: 82,950,598 (GRCm39) R385S possibly damaging Het
Glod4 T A 11: 76,124,104 (GRCm39) H223L probably benign Het
Hrh1 C T 6: 114,457,283 (GRCm39) T188I probably damaging Het
Hsph1 G T 5: 149,541,919 (GRCm39) A769D possibly damaging Het
Jak2 C T 19: 29,279,047 (GRCm39) P933S probably damaging Het
Lrrd1 T A 5: 3,900,017 (GRCm39) D107E probably benign Het
Osbpl8 T A 10: 111,127,371 (GRCm39) S776R probably benign Het
Pcna C T 2: 132,093,340 (GRCm39) V136I probably benign Het
Pde11a A G 2: 76,045,729 (GRCm39) F365S probably damaging Het
Plce1 A G 19: 38,687,006 (GRCm39) Y638C probably damaging Het
Pnpla6 A G 8: 3,592,299 (GRCm39) D1196G probably benign Het
Pramel26 T C 4: 143,539,293 (GRCm39) T67A probably benign Het
Psg22 A G 7: 18,456,893 (GRCm39) I220V probably benign Het
Rap1gap2 A T 11: 74,328,274 (GRCm39) Y97N probably damaging Het
Taf2 A T 15: 54,909,174 (GRCm39) C690* probably null Het
Taf3 A T 2: 9,957,728 (GRCm39) D146E probably damaging Het
Tnrc6c A G 11: 117,605,011 (GRCm39) T49A possibly damaging Het
Trdn T C 10: 33,347,602 (GRCm39) probably null Het
Ttc29 C T 8: 79,060,385 (GRCm39) T435I probably benign Het
Vps37b T C 5: 124,148,814 (GRCm39) T74A possibly damaging Het
Zbtb11 T A 16: 55,820,965 (GRCm39) Y687* probably null Het
Other mutations in Pi15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Pi15 APN 1 17,691,764 (GRCm39) splice site probably benign
IGL03388:Pi15 APN 1 17,673,001 (GRCm39) missense probably benign
R0554:Pi15 UTSW 1 17,691,872 (GRCm39) missense probably benign 0.06
R0578:Pi15 UTSW 1 17,673,073 (GRCm39) nonsense probably null
R1524:Pi15 UTSW 1 17,690,076 (GRCm39) missense probably benign 0.01
R1665:Pi15 UTSW 1 17,691,726 (GRCm39) missense probably damaging 1.00
R1791:Pi15 UTSW 1 17,672,945 (GRCm39) missense probably benign 0.02
R4767:Pi15 UTSW 1 17,672,990 (GRCm39) missense probably benign
R7804:Pi15 UTSW 1 17,695,137 (GRCm39) nonsense probably null
R7850:Pi15 UTSW 1 17,673,105 (GRCm39) nonsense probably null
R8914:Pi15 UTSW 1 17,691,962 (GRCm39) missense probably damaging 1.00
R8974:Pi15 UTSW 1 17,691,675 (GRCm39) missense possibly damaging 0.82
R8977:Pi15 UTSW 1 17,690,126 (GRCm39) critical splice donor site probably null
R9254:Pi15 UTSW 1 17,695,180 (GRCm39) missense probably benign 0.00
R9567:Pi15 UTSW 1 17,695,178 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06