Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02470:Serpinb1a'

294692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb1a

Ensembl Gene

ENSMUSG00000044734

Gene Name

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

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

32842092-32851185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32850393 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 5 (S5N)

Ref Sequence

ENSEMBL: ENSMUSP00000089257 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076352
AA Change: S5N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: S5N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091668
AA Change: S5N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734
AA Change: S5N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223016

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
Adcy10	A	G	1: 165,567,726	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,183,194	K727I	probably damaging	Het
Akr1c21	A	T	13: 4,577,407	N167Y	probably damaging	Het
Arl4a	T	C	12: 40,036,748		probably benign	Het
BB014433	A	T	8: 15,042,803	F17I	unknown	Het
Best1	T	C	19: 9,992,976	S91G	probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcc	A	T	18: 71,955,082		probably benign	Het
Dnajc13	G	A	9: 104,175,747	T1672I	probably benign	Het
Elf3	A	T	1: 135,255,012	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,839,460	L880P	probably damaging	Het
Fndc3b	A	G	3: 27,461,720	Y646H	probably damaging	Het
Fzd6	A	T	15: 39,036,557		probably benign	Het
Gnb1	T	A	4: 155,527,513		probably benign	Het
Mast1	C	A	8: 84,921,212	G511V	probably damaging	Het
Mcmbp	T	C	7: 128,704,621	I424M	possibly damaging	Het
Mobp	A	G	9: 120,168,006	T68A	probably benign	Het
Myh11	T	C	16: 14,218,046	E1006G	probably damaging	Het
Ncstn	A	G	1: 172,082,599		probably null	Het
Olfr1089	A	T	2: 86,733,585	V9E	probably damaging	Het
Olfr340	A	G	2: 36,452,597	D4G	probably benign	Het
Phip	A	T	9: 82,890,454	V1075D	possibly damaging	Het
Slc15a3	A	G	19: 10,853,170	N295S	probably benign	Het
Trmt13	A	C	3: 116,590,228		probably null	Het
Trp63	A	C	16: 25,820,384		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Serpinb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Serpinb1a	APN	13	32845415	missense	probably benign	0.03
IGL03215:Serpinb1a	APN	13	32850369	missense	probably damaging	0.99
R0047:Serpinb1a	UTSW	13	32850276	missense	probably damaging	1.00
R0047:Serpinb1a	UTSW	13	32850276	missense	probably damaging	1.00
R0121:Serpinb1a	UTSW	13	32848771	splice site	probably benign
R0335:Serpinb1a	UTSW	13	32848656	missense	probably damaging	1.00
R0387:Serpinb1a	UTSW	13	32848738	missense	probably benign	0.03
R0751:Serpinb1a	UTSW	13	32843216	missense	probably benign
R1184:Serpinb1a	UTSW	13	32843216	missense	probably benign
R2096:Serpinb1a	UTSW	13	32847454	missense	probably damaging	1.00
R2165:Serpinb1a	UTSW	13	32850414	splice site	probably benign
R3432:Serpinb1a	UTSW	13	32842859	missense	possibly damaging	0.47
R5247:Serpinb1a	UTSW	13	32850406	start codon destroyed	probably damaging	1.00
R5669:Serpinb1a	UTSW	13	32845316	missense	probably damaging	1.00
R6274:Serpinb1a	UTSW	13	32842866	missense	probably damaging	1.00
R7133:Serpinb1a	UTSW	13	32850325	missense	possibly damaging	0.69
R7358:Serpinb1a	UTSW	13	32842998	missense	probably damaging	1.00
R7944:Serpinb1a	UTSW	13	32850256	missense	probably benign	0.34
R7994:Serpinb1a	UTSW	13	32843050	missense	probably damaging	1.00
R8213:Serpinb1a	UTSW	13	32842999	missense	probably damaging	1.00
R8272:Serpinb1a	UTSW	13	32845737	missense	probably damaging	1.00

Posted On

2015-04-16