Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00091:Serpini2'

1784

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpini2

Ensembl Gene

ENSMUSG00000034139

Gene Name

serine (or cysteine) peptidase inhibitor, clade I, member 2

Synonyms

1810006A24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL00091

Quality Score

Status

Chromosome

Chromosomal Location

75149677-75177385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75156549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 327 (Y327C)

Ref Sequence

ENSEMBL: ENSMUSP00000046943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039047]

AlphaFold

Q9JK88

Predicted Effect

probably damaging
Transcript: ENSMUST00000039047
AA Change: Y327C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: Y327C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	31	392	8.75e-130	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,485,157 (GRCm39)	Y400F	probably benign	Het
Adamts8	C	A	9: 30,864,796 (GRCm39)	T429K	probably damaging	Het
Adgrv1	C	T	13: 81,726,220 (GRCm39)	D602N	probably damaging	Het
Ano7	A	T	1: 93,329,888 (GRCm39)	H775L	probably benign	Het
Apoo-ps	A	T	13: 107,551,134 (GRCm39)		noncoding transcript	Het
Arid2	T	C	15: 96,270,183 (GRCm39)	V1432A	probably benign	Het
Atoh1	T	C	6: 64,706,568 (GRCm39)	S88P	possibly damaging	Het
C130050O18Rik	A	G	5: 139,400,601 (GRCm39)	E218G	probably damaging	Het
Cacna2d1	T	A	5: 16,417,942 (GRCm39)	F155L	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cyp1a2	G	T	9: 57,589,352 (GRCm39)	S154*	probably null	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dmbt1	C	A	7: 130,681,270 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,059 (GRCm39)	F81L	possibly damaging	Het
Eml5	G	A	12: 98,839,468 (GRCm39)		probably benign	Het
Fpgs	A	T	2: 32,576,559 (GRCm39)		probably benign	Het
Gab2	T	C	7: 96,951,650 (GRCm39)	S537P	possibly damaging	Het
Gmds	G	A	13: 32,418,373 (GRCm39)	S37L	probably damaging	Het
Ipo13	T	C	4: 117,760,602 (GRCm39)	E626G	probably benign	Het
Kcng1	T	C	2: 168,110,684 (GRCm39)	H160R	probably benign	Het
Lama3	A	G	18: 12,713,349 (GRCm39)	T1608A	probably benign	Het
Lama4	A	C	10: 38,948,801 (GRCm39)	S855R	probably damaging	Het
Ltbp1	C	T	17: 75,532,333 (GRCm39)	H454Y	probably damaging	Het
Map3k14	C	A	11: 103,118,405 (GRCm39)	G594C	probably damaging	Het
Mcph1	A	G	8: 18,682,636 (GRCm39)	N591S	possibly damaging	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Mptx2	T	G	1: 173,102,455 (GRCm39)	N78T	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Nup50	T	A	15: 84,819,605 (GRCm39)	F293Y	probably benign	Het
Ogn	A	G	13: 49,774,514 (GRCm39)	Y219C	probably damaging	Het
Pdia3	T	C	2: 121,244,659 (GRCm39)	L47P	probably damaging	Het
Piwil4	A	T	9: 14,614,393 (GRCm39)	D786E	probably damaging	Het
Pspc1	A	G	14: 57,009,168 (GRCm39)	L222P	probably damaging	Het
Ptchd3	T	A	11: 121,721,972 (GRCm39)	Y282N	probably damaging	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Spire2	A	G	8: 124,080,798 (GRCm39)	D14G	probably damaging	Het
Stab2	A	T	10: 86,705,070 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,077,577 (GRCm39)	L219P	probably damaging	Het
Tmem63a	C	T	1: 180,790,653 (GRCm39)	T437M	probably damaging	Het
Tslp	A	G	18: 32,948,448 (GRCm39)		probably benign	Het
Ttbk2	C	A	2: 120,579,314 (GRCm39)	G534*	probably null	Het
Uggt1	T	C	1: 36,218,633 (GRCm39)		probably benign	Het
Vmn2r118	T	C	17: 55,899,708 (GRCm39)	E732G	probably damaging	Het
Zfhx2	G	A	14: 55,304,022 (GRCm39)	P1321S	possibly damaging	Het
Zfp58	A	G	13: 67,639,114 (GRCm39)	V459A	probably benign	Het
Zfp831	T	C	2: 174,487,451 (GRCm39)	S709P	possibly damaging	Het

Other mutations in Serpini2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Serpini2	APN	3	75,175,116 (GRCm39)	missense	possibly damaging	0.70
IGL03398:Serpini2	APN	3	75,166,852 (GRCm39)	missense	probably benign	0.00
R0271:Serpini2	UTSW	3	75,153,885 (GRCm39)	missense	probably damaging	1.00
R0545:Serpini2	UTSW	3	75,165,445 (GRCm39)	missense	probably benign	0.04
R2309:Serpini2	UTSW	3	75,166,997 (GRCm39)	missense	probably damaging	0.99
R2435:Serpini2	UTSW	3	75,165,475 (GRCm39)	missense	probably benign	0.00
R2886:Serpini2	UTSW	3	75,166,921 (GRCm39)	missense	probably damaging	1.00
R5054:Serpini2	UTSW	3	75,166,784 (GRCm39)	missense	probably damaging	1.00
R5151:Serpini2	UTSW	3	75,153,820 (GRCm39)	missense	possibly damaging	0.93
R5554:Serpini2	UTSW	3	75,175,295 (GRCm39)	start gained	probably benign
R5614:Serpini2	UTSW	3	75,165,014 (GRCm39)	intron	probably benign
R6413:Serpini2	UTSW	3	75,166,921 (GRCm39)	missense	probably damaging	1.00
R6510:Serpini2	UTSW	3	75,159,875 (GRCm39)	missense	probably damaging	0.97
R6688:Serpini2	UTSW	3	75,166,870 (GRCm39)	missense	possibly damaging	0.88
R7178:Serpini2	UTSW	3	75,165,455 (GRCm39)	missense	probably damaging	1.00
R8491:Serpini2	UTSW	3	75,159,822 (GRCm39)	missense	probably damaging	1.00
R9586:Serpini2	UTSW	3	75,166,891 (GRCm39)	missense	probably benign	0.01

Posted On

2011-07-12