Mutagenetix > Incidental Mutation

Incidental Mutation 'R9423:Serpinb1a'

712452

Institutional Source

Beutler Lab

Gene Symbol

Serpinb1a

Ensembl Gene

ENSMUSG00000044734

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 1a

Synonyms

EIA, 1190005M04Rik, MNEI, LEI, ELANH2, M/NEI, ovalbumin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R9423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33026075-33035168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33026910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 344 (C344Y)

Ref Sequence

ENSEMBL: ENSMUSP00000075690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076352] [ENSMUST00000091668]

AlphaFold

Q9D154

Predicted Effect

probably benign
Transcript: ENSMUST00000076352
AA Change: C344Y

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: C344Y

Domain	Start	End	E-Value	Type
SERPIN	13	379	1.19e-190	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091668

SMART Domains

Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734

Domain	Start	End	E-Value	Type
SERPIN	13	348	1.5e-151	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (23/23)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,520 (GRCm39)	S959P	probably damaging	Het
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Abcb10	A	G	8: 124,688,819 (GRCm39)	S486P		Het
Adamts19	G	T	18: 59,023,427 (GRCm39)	R274L	possibly damaging	Het
Ahcyl1	C	T	3: 107,578,476 (GRCm39)	E254K	probably damaging	Het
Ccdc177	T	G	12: 80,804,162 (GRCm39)	D704A	unknown	Het
Cd200r3	T	C	16: 44,771,895 (GRCm39)	V53A	probably benign	Het
Cdc42bpg	T	C	19: 6,363,329 (GRCm39)	L429P	probably damaging	Het
Cdh23	T	C	10: 60,148,387 (GRCm39)	D2660G	probably damaging	Het
Cfap61	G	T	2: 145,985,155 (GRCm39)	A1000S	probably damaging	Het
Col28a1	T	C	6: 7,999,601 (GRCm39)	T1039A	probably benign	Het
Ctsd	A	G	7: 141,939,212 (GRCm39)	L71P	probably damaging	Het
Dab2ip	C	T	2: 35,599,966 (GRCm39)	T251M	probably damaging	Het
Dcaf8	T	A	1: 172,007,524 (GRCm39)	I331N	probably damaging	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dgka	C	T	10: 128,557,055 (GRCm39)	C640Y	probably damaging	Het
Entrep3	T	A	3: 89,092,007 (GRCm39)	L155Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Htr2a	T	A	14: 74,943,516 (GRCm39)	F365L	probably damaging	Het
Kdm5b	T	C	1: 134,515,705 (GRCm39)	Y110H	possibly damaging	Het
Ktn1	A	G	14: 47,912,318 (GRCm39)	T362A	probably benign	Het
Ltbp1	G	A	17: 75,597,112 (GRCm39)	S581N	probably benign	Het
Nr1h4	C	A	10: 89,309,688 (GRCm39)	R347L	possibly damaging	Het
Or4f60	A	T	2: 111,902,808 (GRCm39)	M40K	possibly damaging	Het
Or8g26	G	T	9: 39,095,838 (GRCm39)	M118I	probably damaging	Het
Parg	T	G	14: 31,939,662 (GRCm39)	F563V	probably damaging	Het
Pfkfb3	T	C	2: 11,487,276 (GRCm39)	Y378C	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm2	A	C	5: 124,271,469 (GRCm39)	L368R	probably benign	Het
Pkd1l3	A	G	8: 110,350,312 (GRCm39)	T386A	possibly damaging	Het
Plch2	C	A	4: 155,071,049 (GRCm39)	C1110F		Het
Poc5	T	C	13: 96,547,114 (GRCm39)	V459A	probably damaging	Het
Pou4f3	T	C	18: 42,528,959 (GRCm39)	S301P	probably damaging	Het
Rpf2	T	C	10: 40,101,336 (GRCm39)	D233G	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Samd4b	A	G	7: 28,113,633 (GRCm39)	Y111H	probably benign	Het
Serpinb10	C	T	1: 107,466,179 (GRCm39)	T55M	probably benign	Het
Shprh	T	C	10: 11,081,007 (GRCm39)	V1524A	probably damaging	Het
Sirt1	T	C	10: 63,158,025 (GRCm39)	H463R	probably damaging	Het
Skor2	T	A	18: 76,948,300 (GRCm39)	L674Q	probably damaging	Het
Slc3a2	T	A	19: 8,690,189 (GRCm39)	K201M	possibly damaging	Het
Spata31h1	C	A	10: 82,123,459 (GRCm39)	V3184L	possibly damaging	Het
Stam	C	A	2: 14,146,564 (GRCm39)	Q421K	possibly damaging	Het
Steap4	G	A	5: 8,026,720 (GRCm39)	V228M	probably damaging	Het
Tacr3	A	G	3: 134,638,043 (GRCm39)	Y400C	probably benign	Het
Tecpr1	A	G	5: 144,155,396 (GRCm39)	V54A	probably damaging	Het
Tgm3	A	T	2: 129,880,527 (GRCm39)	E444D	probably benign	Het
Trim30a	A	T	7: 104,078,410 (GRCm39)	L222Q	probably damaging	Het
Trmt1l	T	C	1: 151,325,817 (GRCm39)	Y421H	possibly damaging	Het
Usp24	T	C	4: 106,288,867 (GRCm39)	F2500L	probably damaging	Het
Vmn2r54	T	A	7: 12,349,441 (GRCm39)	S714C	probably damaging	Het
Washc5	A	G	15: 59,227,735 (GRCm39)	I409T	probably benign	Het
Zfta	T	C	19: 7,397,624 (GRCm39)	L57P	probably damaging	Het

Other mutations in Serpinb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Serpinb1a	APN	13	33,029,398 (GRCm39)	missense	probably benign	0.03
IGL02470:Serpinb1a	APN	13	33,034,376 (GRCm39)	missense	probably damaging	0.98
IGL03215:Serpinb1a	APN	13	33,034,352 (GRCm39)	missense	probably damaging	0.99
R0047:Serpinb1a	UTSW	13	33,034,259 (GRCm39)	missense	probably damaging	1.00
R0047:Serpinb1a	UTSW	13	33,034,259 (GRCm39)	missense	probably damaging	1.00
R0121:Serpinb1a	UTSW	13	33,032,754 (GRCm39)	splice site	probably benign
R0335:Serpinb1a	UTSW	13	33,032,639 (GRCm39)	missense	probably damaging	1.00
R0387:Serpinb1a	UTSW	13	33,032,721 (GRCm39)	missense	probably benign	0.03
R0751:Serpinb1a	UTSW	13	33,027,199 (GRCm39)	missense	probably benign
R1184:Serpinb1a	UTSW	13	33,027,199 (GRCm39)	missense	probably benign
R2096:Serpinb1a	UTSW	13	33,031,437 (GRCm39)	missense	probably damaging	1.00
R2165:Serpinb1a	UTSW	13	33,034,397 (GRCm39)	splice site	probably benign
R3432:Serpinb1a	UTSW	13	33,026,842 (GRCm39)	missense	possibly damaging	0.47
R5247:Serpinb1a	UTSW	13	33,034,389 (GRCm39)	start codon destroyed	probably damaging	1.00
R5669:Serpinb1a	UTSW	13	33,029,299 (GRCm39)	missense	probably damaging	1.00
R6274:Serpinb1a	UTSW	13	33,026,849 (GRCm39)	missense	probably damaging	1.00
R7133:Serpinb1a	UTSW	13	33,034,308 (GRCm39)	missense	possibly damaging	0.69
R7358:Serpinb1a	UTSW	13	33,026,981 (GRCm39)	missense	probably damaging	1.00
R7944:Serpinb1a	UTSW	13	33,034,239 (GRCm39)	missense	probably benign	0.34
R7994:Serpinb1a	UTSW	13	33,027,033 (GRCm39)	missense	probably damaging	1.00
R8213:Serpinb1a	UTSW	13	33,026,982 (GRCm39)	missense	probably damaging	1.00
R8272:Serpinb1a	UTSW	13	33,029,720 (GRCm39)	missense	probably damaging	1.00
R9023:Serpinb1a	UTSW	13	33,029,763 (GRCm39)	missense	probably damaging	0.99
R9287:Serpinb1a	UTSW	13	33,026,946 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCATGCCAAAAGTCATGG -3'
(R):5'- ATACCCTCAACTCTAACCTGGG -3'

Sequencing Primer
(F):5'- CCATGCCAAAAGTCATGGATATAAAG -3'
(R):5'- AACTCTAACCTGGGCCGCC -3'

Posted On

2022-05-16