Mutagenetix > Incidental Mutation

Incidental Mutation 'R9238:Serpinb9'

700603

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9

Ensembl Gene

ENSMUSG00000045827

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9

Synonyms

ovalbumin, PI-9, Spi6

MMRRC Submission

068987-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R9238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33187233-33201940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33199479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 258 (D258G)

Ref Sequence

ENSEMBL: ENSMUSP00000006391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006391] [ENSMUST00000063191]

AlphaFold

O08797

Predicted Effect

probably benign
Transcript: ENSMUST00000006391
AA Change: D258G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
AA Change: D258G

Domain	Start	End	E-Value	Type
SERPIN	13	374	6.04e-174	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063191
AA Change: D258G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
AA Change: D258G

Domain	Start	End	E-Value	Type
SERPIN	13	374	6.04e-174	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mice show defective CTL immunity and clearance of LCMV. Following infection with LCMV or L. monocytogenes, mutant CTLs display a breakdown of cytotoxic granule integrity, increased cytoplasmic granzyme B, and reduced survival due to increased granzyme B-mediated apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	C	A	5: 137,653,622 (GRCm39)	V365F	probably damaging	Het
Atxn7	A	T	14: 14,089,441 (GRCm38)	N319I	probably damaging	Het
AY074887	C	T	9: 54,858,087 (GRCm39)	V13M	unknown	Het
Boc	T	C	16: 44,311,021 (GRCm39)	T738A		Het
C2cd5	A	G	6: 143,027,127 (GRCm39)	V126A	possibly damaging	Het
Cdk9	A	T	2: 32,598,273 (GRCm39)	L261Q	possibly damaging	Het
Chi3l1	T	C	1: 134,115,685 (GRCm39)	L231P	probably damaging	Het
Ckap5	T	A	2: 91,399,027 (GRCm39)	C604S	probably null	Het
Dop1a	T	C	9: 86,415,027 (GRCm39)	V1923A	probably benign	Het
Dop1b	T	C	16: 93,546,018 (GRCm39)	S230P	probably benign	Het
Eps15l1	T	C	8: 73,095,274 (GRCm39)	E892G	probably damaging	Het
Fasn	T	C	11: 120,705,871 (GRCm39)	T1133A	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fras1	A	T	5: 96,832,220 (GRCm39)	I1518F	possibly damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Herc2	T	A	7: 55,813,508 (GRCm39)	C2580S	probably damaging	Het
Ino80b	T	A	6: 83,102,314 (GRCm39)		probably benign	Het
Kdm2b	T	C	5: 123,009,889 (GRCm39)	R1274G	probably damaging	Het
Lcn12	A	G	2: 25,382,273 (GRCm39)	I144T	possibly damaging	Het
Lrrc37	G	T	11: 103,509,859 (GRCm39)	P703Q	unknown	Het
Mroh5	T	C	15: 73,663,586 (GRCm39)	N158S	probably benign	Het
Mtpap	G	T	18: 4,396,439 (GRCm39)	G577V	probably damaging	Het
Ncoa1	A	G	12: 4,325,177 (GRCm39)	V967A	possibly damaging	Het
Ndufa11	T	C	17: 57,028,112 (GRCm39)	Y61H	probably benign	Het
Nr2c2	T	A	6: 92,144,530 (GRCm39)	N602K	probably damaging	Het
Nubp1	C	A	16: 10,231,604 (GRCm39)	T85K	probably benign	Het
Oosp3	A	G	19: 11,676,753 (GRCm39)	I37M	probably damaging	Het
Optn	A	G	2: 5,057,951 (GRCm39)	S73P	probably damaging	Het
Or10j3	T	C	1: 173,031,352 (GRCm39)	I143T	probably benign	Het
Or2y15	A	G	11: 49,350,529 (GRCm39)	T8A	probably benign	Het
Osmr	T	G	15: 6,846,086 (GRCm39)	I779L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,190 (GRCm39)	D370G	probably benign	Het
Pgap1	A	G	1: 54,550,570 (GRCm39)	S571P	probably benign	Het
Pgbd5	A	G	8: 125,106,930 (GRCm39)	I204T	probably damaging	Het
Pkhd1	A	G	1: 20,604,799 (GRCm39)	I1172T	possibly damaging	Het
Plch1	T	A	3: 63,606,412 (GRCm39)	H1164L	possibly damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab38	T	A	7: 88,099,954 (GRCm39)	F156L	possibly damaging	Het
Rtl1	T	C	12: 109,561,017 (GRCm39)	E274G	possibly damaging	Het
Slc26a11	T	C	11: 119,265,733 (GRCm39)		probably null	Het
Slco1a7	G	T	6: 141,686,153 (GRCm39)	T229K	probably damaging	Het
Stard9	C	A	2: 120,528,447 (GRCm39)	T1568N	probably damaging	Het
Ston2	T	C	12: 91,615,461 (GRCm39)	T316A	probably benign	Het
Tacc1	A	T	8: 25,672,634 (GRCm39)	M198K	probably benign	Het
Tspan33	T	C	6: 29,710,652 (GRCm39)	F76S	probably damaging	Het
Tspyl5	T	C	15: 33,687,082 (GRCm39)	I288V	possibly damaging	Het
Vmn2r50	G	A	7: 9,781,503 (GRCm39)	S414F	probably benign	Het
Zfp141	G	A	7: 42,125,111 (GRCm39)	R454*	probably null	Het
Zscan22	T	A	7: 12,641,075 (GRCm39)	C440S	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,339 (GRCm39)	Q153L	probably damaging	Het

Other mutations in Serpinb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Serpinb9	APN	13	33,190,673 (GRCm39)	missense	probably damaging	1.00
IGL03385:Serpinb9	APN	13	33,191,979 (GRCm39)	splice site	probably benign
R0173:Serpinb9	UTSW	13	33,194,705 (GRCm39)	missense	probably benign	0.03
R1586:Serpinb9	UTSW	13	33,199,469 (GRCm39)	missense	probably benign	0.00
R3708:Serpinb9	UTSW	13	33,192,002 (GRCm39)	missense	possibly damaging	0.89
R3853:Serpinb9	UTSW	13	33,199,503 (GRCm39)	missense	possibly damaging	0.70
R3903:Serpinb9	UTSW	13	33,194,793 (GRCm39)	missense	possibly damaging	0.78
R4117:Serpinb9	UTSW	13	33,199,579 (GRCm39)	missense	probably benign	0.26
R4903:Serpinb9	UTSW	13	33,192,847 (GRCm39)	missense	probably damaging	1.00
R4964:Serpinb9	UTSW	13	33,192,847 (GRCm39)	missense	probably damaging	1.00
R4966:Serpinb9	UTSW	13	33,192,847 (GRCm39)	missense	probably damaging	1.00
R5140:Serpinb9	UTSW	13	33,190,544 (GRCm39)	missense	probably benign	0.03
R5463:Serpinb9	UTSW	13	33,199,659 (GRCm39)	missense	probably damaging	0.98
R6165:Serpinb9	UTSW	13	33,192,807 (GRCm39)	missense	possibly damaging	0.81
R7510:Serpinb9	UTSW	13	33,194,768 (GRCm39)	missense	probably damaging	0.99
R7511:Serpinb9	UTSW	13	33,192,054 (GRCm39)	missense	probably benign	0.12
R9069:Serpinb9	UTSW	13	33,199,579 (GRCm39)	missense	probably benign	0.26
R9128:Serpinb9	UTSW	13	33,190,686 (GRCm39)	missense	possibly damaging	0.81
R9409:Serpinb9	UTSW	13	33,192,797 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGGCTGCTTGTCAACCATG -3'
(R):5'- CTCTGGTGAACAAACTTGGAC -3'

Sequencing Primer
(F):5'- AGTGGACTGTCACACTGCC -3'
(R):5'- GACACACACAGGTTTCTCTCTGGAG -3'

Posted On

2022-02-07