Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03388:Pi15'

420938

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 #

IGL03388

Quality Score

Status

Chromosome

Chromosomal Location

17672125-17701163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17673001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 67 (A67T)

Ref Sequence

ENSEMBL: ENSMUSP00000085826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088476]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088476
AA Change: A67T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085826
Gene: ENSMUSG00000067780
AA Change: A67T

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
SCP	76	230	9.32e-37	SMART

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,693,596 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,801 (GRCm39)	K340R	possibly damaging	Het
Ccr3	A	G	9: 123,828,658 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,992 (GRCm39)		probably benign	Het
Clasp1	T	A	1: 118,433,233 (GRCm39)	D237E	possibly damaging	Het
Ddx18	T	C	1: 121,493,652 (GRCm39)	K111E	possibly damaging	Het
Defa21	T	C	8: 21,515,764 (GRCm39)	L54P	probably damaging	Het
Dennd3	T	C	15: 73,416,208 (GRCm39)	V486A	probably damaging	Het
Dnah9	T	A	11: 65,838,368 (GRCm39)	D3143V	probably damaging	Het
Dnm1l	A	G	16: 16,131,916 (GRCm39)		probably benign	Het
Epb41	T	C	4: 131,702,105 (GRCm39)	Y510C	probably damaging	Het
Fat4	T	C	3: 39,011,376 (GRCm39)	Y2159H	probably damaging	Het
Fmo1	A	G	1: 162,663,716 (GRCm39)	V271A	probably benign	Het
Gm12185	A	G	11: 48,799,113 (GRCm39)	V460A	probably benign	Het
Hspa8	T	C	9: 40,716,224 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,356 (GRCm39)	E166G	probably damaging	Het
Il31ra	C	A	13: 112,682,746 (GRCm39)	S120I	probably damaging	Het
Kdm5b	A	G	1: 134,555,060 (GRCm39)	T1323A	probably benign	Het
Lgals9	T	A	11: 78,854,247 (GRCm39)	I346F	probably damaging	Het
Lgi2	T	C	5: 52,695,819 (GRCm39)	D372G	probably damaging	Het
Magi3	A	C	3: 103,923,157 (GRCm39)	S1187A	probably benign	Het
Nr1d2	A	G	14: 18,215,403 (GRCm38)	F203S	probably benign	Het
Nup210l	G	A	3: 90,077,351 (GRCm39)	V896I	probably damaging	Het
Nxf7	T	C	X: 134,485,489 (GRCm39)	K440E	probably damaging	Het
Or6c206	A	T	10: 129,097,312 (GRCm39)	I161F	probably benign	Het
Or9i1b	T	A	19: 13,896,984 (GRCm39)	V200D	probably damaging	Het
Pcdhb6	T	C	18: 37,469,190 (GRCm39)	S20P	probably damaging	Het
Per2	G	T	1: 91,372,511 (GRCm39)		probably benign	Het
Pnp2	A	T	14: 51,200,995 (GRCm39)	N160I	probably damaging	Het
Ppp1r12c	A	G	7: 4,485,069 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,561,093 (GRCm39)		probably null	Het
Rnf115	G	A	3: 96,695,984 (GRCm39)	V257M	probably damaging	Het
Rtkn	T	A	6: 83,127,071 (GRCm39)	V346D	probably benign	Het
Rubcn	A	T	16: 32,661,938 (GRCm39)	N427K	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sel1l2	A	C	2: 140,105,284 (GRCm39)		probably benign	Het
Septin4	T	A	11: 87,459,042 (GRCm39)	L472*	probably null	Het
Slc5a5	A	G	8: 71,342,972 (GRCm39)	V196A	probably benign	Het
Sox13	A	T	1: 133,316,686 (GRCm39)	L207H	probably damaging	Het
Tmtc2	A	G	10: 105,157,344 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,720,907 (GRCm39)	K1409R	probably damaging	Het
Ttn	C	T	2: 76,797,481 (GRCm39)	A528T	probably benign	Het
Ubr4	T	C	4: 139,142,343 (GRCm39)	I1310T	probably damaging	Het
Ypel5	T	C	17: 73,153,400 (GRCm39)	F35L	probably damaging	Het
Zfp13	G	T	17: 23,795,888 (GRCm39)	R228S	probably benign	Het

Other mutations in Pi15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Pi15	APN	1	17,691,747 (GRCm39)	missense	probably damaging	1.00
IGL00844:Pi15	APN	1	17,691,764 (GRCm39)	splice site	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

2016-08-02