Mutagenetix > Incidental Mutation

Incidental Mutation 'R5669:Serpinb1a'

442533

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

043312-MU

Accession Numbers

Essential gene?

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

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33026075-33035168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33029299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 243 (L243P)

Ref Sequence

ENSEMBL: ENSMUSP00000075690 (fasta)

Gene Model

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

AlphaFold

Q9D154

Predicted Effect

probably damaging
Transcript: ENSMUST00000076352
AA Change: L243P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: L243P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223016

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Akap9	T	A	5: 4,100,540 (GRCm39)	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,588,284 (GRCm39)	I25T	probably damaging	Het
Astl	G	T	2: 127,189,199 (GRCm39)	R175L	probably damaging	Het
BC035947	A	T	1: 78,474,550 (GRCm39)	C661S	probably damaging	Het
Cd160	C	T	3: 96,716,214 (GRCm39)		probably benign	Het
Cdc42bpb	C	T	12: 111,268,447 (GRCm39)		probably null	Het
Cdip1	T	A	16: 4,586,679 (GRCm39)	I149F	probably damaging	Het
Cfap65	T	C	1: 74,964,127 (GRCm39)	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,803,197 (GRCm39)	I1256T	unknown	Het
Copb1	A	G	7: 113,836,820 (GRCm39)	V336A	probably damaging	Het
Ddx42	A	T	11: 106,132,645 (GRCm39)	D556V	probably damaging	Het
Dlk1	T	C	12: 109,425,964 (GRCm39)	V279A	probably benign	Het
Fbll1	T	C	11: 35,688,411 (GRCm39)	N284S	probably benign	Het
Fbxw21	A	T	9: 108,974,578 (GRCm39)	I314N	probably benign	Het
Foxa3	T	C	7: 18,748,176 (GRCm39)	T317A	probably benign	Het
Gpr37	A	T	6: 25,669,351 (GRCm39)	C498S	probably benign	Het
Hapln3	G	T	7: 78,767,244 (GRCm39)		probably null	Het
Igkv4-54	A	G	6: 69,608,832 (GRCm39)	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,154,363 (GRCm39)	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,779,693 (GRCm39)	T248A	probably damaging	Het
Kcnv1	T	C	15: 44,977,648 (GRCm39)	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,001,050 (GRCm39)	H2058R	probably damaging	Het
Macf1	T	A	4: 123,370,018 (GRCm39)	E1581V	probably damaging	Het
Mga	A	G	2: 119,733,907 (GRCm39)	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Or10ag53	T	C	2: 87,082,785 (GRCm39)	V168A	probably benign	Het
Or7e165	T	C	9: 19,695,053 (GRCm39)	F208S	probably benign	Het
Pak5	G	A	2: 135,958,204 (GRCm39)	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,278,221 (GRCm39)	S595T	probably benign	Het
Pepd	T	C	7: 34,740,099 (GRCm39)	V324A	probably benign	Het
Pml	C	T	9: 58,154,346 (GRCm39)	D176N	probably benign	Het
Popdc3	T	A	10: 45,192,529 (GRCm39)	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,106,947 (GRCm39)	T481P	probably benign	Het
Pramel13	T	C	4: 144,122,413 (GRCm39)	I44V	probably benign	Het
Prlh	A	G	1: 90,880,842 (GRCm39)	T5A	probably benign	Het
Prom1	A	G	5: 44,170,285 (GRCm39)	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,395,564 (GRCm39)	L1897H	probably damaging	Het
Ret	T	C	6: 118,161,204 (GRCm39)	T91A	probably benign	Het
Retsat	A	G	6: 72,582,993 (GRCm39)	S176G	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,349,611 (GRCm39)	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,834,161 (GRCm39)	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,194,641 (GRCm39)	D90G	probably damaging	Het
Scarb1	A	G	5: 125,377,451 (GRCm39)	Y194H	probably damaging	Het
Scube2	C	T	7: 109,424,646 (GRCm39)	A556T	probably benign	Het
Slc39a4	A	C	15: 76,498,363 (GRCm39)	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Srgap1	C	A	10: 121,640,755 (GRCm39)	V681L	probably benign	Het
Tmprss6	A	T	15: 78,339,156 (GRCm39)	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,858,433 (GRCm39)	K719*	probably null	Het
Vmn1r62	T	A	7: 5,678,736 (GRCm39)	L139*	probably null	Het
Zfp1004	A	G	2: 150,034,098 (GRCm39)	I140V	probably benign	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
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
R9423:Serpinb1a	UTSW	13	33,026,910 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- ATGAGATCTCAGAGCAGTAAGTC -3'
(R):5'- GTTAGCCAGGCCTTTACCACTG -3'

Sequencing Primer
(F):5'- TCTCAGAGCAGTAAGTCCTGATG -3'
(R):5'- AGGCCTTTACCACTGAGCCC -3'

Posted On

2016-11-09