Mutagenetix > Incidental Mutation

Incidental Mutation 'R9287:Serpinb1a'

704047

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?

Possibly non essential (E-score: 0.271) question?

Stock #

R9287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33026075-33035168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33026946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 332 (E332G)

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: E332G

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

SMART Domains

Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: E332G

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% (109/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	A	2: 32,465,178 (GRCm39)		probably benign	Het
Aadacl2	C	A	3: 59,932,573 (GRCm39)	H363N	probably damaging	Het
Ace3	T	G	11: 105,888,246 (GRCm39)	S319A	probably damaging	Het
Amer3	C	T	1: 34,627,900 (GRCm39)	P713L	possibly damaging	Het
Aoah	T	C	13: 21,186,879 (GRCm39)	L453P	probably damaging	Het
Asz1	A	T	6: 18,051,290 (GRCm39)	L463Q	possibly damaging	Het
Bpifb6	T	A	2: 153,746,535 (GRCm39)	V143D	probably damaging	Het
Cad	T	A	5: 31,230,000 (GRCm39)	M1499K	possibly damaging	Het
Casp9	T	A	4: 141,534,471 (GRCm39)	C294S	probably benign	Het
Ccdc7b	T	A	8: 129,890,321 (GRCm39)	S65T	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap54	T	C	10: 92,805,565 (GRCm39)	Y1515C	possibly damaging	Het
Chrm5	A	C	2: 112,309,610 (GRCm39)	F502C	probably damaging	Het
Cnst	A	T	1: 179,407,108 (GRCm39)	T52S	possibly damaging	Het
Cntn6	T	C	6: 104,809,471 (GRCm39)	I502T	possibly damaging	Het
Col7a1	G	A	9: 108,787,457 (GRCm39)	V617M	unknown	Het
Ctsb	A	G	14: 63,370,875 (GRCm39)	D29G	probably benign	Het
Cyp3a44	T	A	5: 145,725,202 (GRCm39)	Q333L	possibly damaging	Het
Dnajc27	T	C	12: 4,146,256 (GRCm39)	V95A	possibly damaging	Het
Eea1	T	A	10: 95,831,445 (GRCm39)	Y179N	probably damaging	Het
Erbb2	T	C	11: 98,326,107 (GRCm39)	M961T	probably damaging	Het
Fat4	G	A	3: 38,945,781 (GRCm39)	G1558D	probably damaging	Het
Foxh1	T	C	15: 76,553,126 (GRCm39)	E196G	probably damaging	Het
Gcc2	T	A	10: 58,105,217 (GRCm39)	L151*	probably null	Het
Gcdh	C	T	8: 85,616,313 (GRCm39)	G294D	probably damaging	Het
Gcnt3	A	T	9: 69,941,693 (GRCm39)	F292I	probably damaging	Het
Glod4	T	C	11: 76,128,510 (GRCm39)	S131G	probably benign	Het
Gpc2	G	A	5: 138,272,586 (GRCm39)	L576F	unknown	Het
Gphn	G	A	12: 78,609,646 (GRCm39)	S330N	possibly damaging	Het
Heatr5a	C	T	12: 51,967,260 (GRCm39)	C872Y	probably damaging	Het
Hephl1	G	A	9: 14,995,775 (GRCm39)	S449L	probably benign	Het
Hrh2	G	T	13: 54,368,358 (GRCm39)	M111I	probably benign	Het
Igfn1	A	G	1: 135,925,544 (GRCm39)	V70A	probably benign	Het
Il2	G	A	3: 37,179,988 (GRCm39)	T23I	probably damaging	Het
Irak4	A	G	15: 94,460,917 (GRCm39)	T382A	possibly damaging	Het
Itih2	A	G	2: 10,128,297 (GRCm39)	S135P	possibly damaging	Het
Kansl3	C	T	1: 36,388,497 (GRCm39)	D457N	probably damaging	Het
Kcns3	A	G	12: 11,141,601 (GRCm39)	I366T	probably damaging	Het
Kif26a	C	A	12: 112,145,719 (GRCm39)	Y1743*	probably null	Het
Lama4	A	T	10: 38,981,960 (GRCm39)	I1730F	probably damaging	Het
Lax1	T	C	1: 133,607,931 (GRCm39)	N270S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp6	A	G	6: 134,483,259 (GRCm39)	V482A	probably benign	Het
Luzp2	A	G	7: 54,914,108 (GRCm39)		probably benign	Het
Mc5r	C	A	18: 68,472,200 (GRCm39)	D186E	probably damaging	Het
Mcph1	A	T	8: 18,657,293 (GRCm39)		probably null	Het
Mgam	A	G	6: 40,705,905 (GRCm39)		probably benign	Het
Mmrn1	A	C	6: 60,952,939 (GRCm39)	T407P	probably damaging	Het
Mrpl1	T	C	5: 96,386,806 (GRCm39)	V265A	probably benign	Het
Mrpl15	C	T	1: 4,846,856 (GRCm39)	G240D	probably damaging	Het
Msx1	A	T	5: 37,978,795 (GRCm39)	M240K	probably damaging	Het
Mtf1	T	C	4: 124,724,934 (GRCm39)	L337P	probably damaging	Het
Muc5ac	T	A	7: 141,361,626 (GRCm39)	C1646S	probably damaging	Het
Mvb12a	C	A	8: 71,999,638 (GRCm39)	T219N	probably damaging	Het
Myo16	G	A	8: 10,526,114 (GRCm39)	V885M	unknown	Het
N4bp2	T	A	5: 65,960,855 (GRCm39)	S509T	probably benign	Het
Nckap1	A	G	2: 80,383,750 (GRCm39)	V144A	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,404 (GRCm39)	G191C	possibly damaging	Het
Nmnat2	T	C	1: 152,962,138 (GRCm39)	I126T	probably damaging	Het
Nrp2	C	T	1: 62,835,014 (GRCm39)	R863W	probably damaging	Het
Nup188	C	T	2: 30,226,726 (GRCm39)	R1168C	probably damaging	Het
Oas3	T	A	5: 120,892,754 (GRCm39)	D1091V	probably damaging	Het
Optn	T	A	2: 5,036,126 (GRCm39)	Q452L	probably damaging	Het
Or8b47	C	T	9: 38,435,082 (GRCm39)	T18I	probably damaging	Het
Pcca	G	A	14: 122,854,178 (GRCm39)	V157I	probably benign	Het
Pcdha9	A	G	18: 37,132,281 (GRCm39)	D450G	probably benign	Het
Pcnx1	T	A	12: 82,042,323 (GRCm39)	S38T	probably benign	Het
Phrf1	C	G	7: 140,840,055 (GRCm39)	D1083E	probably benign	Het
Plaat5	T	A	19: 7,596,691 (GRCm39)	Y159*	probably null	Het
Plcb4	G	A	2: 135,829,817 (GRCm39)	A947T	probably benign	Het
Ppp1r3g	G	A	13: 36,152,834 (GRCm39)	D85N	possibly damaging	Het
Pramel34	G	A	5: 93,785,969 (GRCm39)	H104Y	possibly damaging	Het
Prom2	A	C	2: 127,380,185 (GRCm39)	V349G	probably damaging	Het
Prrc2c	C	T	1: 162,541,843 (GRCm39)	S382N	probably benign	Het
Rai14	A	T	15: 10,592,204 (GRCm39)	N230K	probably benign	Het
Rexo5	A	T	7: 119,402,025 (GRCm39)	K142I	probably damaging	Het
Rgs22	T	C	15: 36,098,409 (GRCm39)	H484R	probably damaging	Het
Rims2	C	T	15: 39,543,086 (GRCm39)	A1440V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc26a7	C	T	4: 14,516,165 (GRCm39)	G555S	possibly damaging	Het
Slc4a2	A	T	5: 24,639,123 (GRCm39)	D386V	probably damaging	Het
Slc6a17	C	T	3: 107,384,551 (GRCm39)	V350M	probably damaging	Het
Smc2	A	G	4: 52,449,361 (GRCm39)	Y174C	probably damaging	Het
Smoc2	A	G	17: 14,619,686 (GRCm39)	Y355C	probably damaging	Het
Smpd1	T	A	7: 105,204,442 (GRCm39)	V107E	probably benign	Het
Snapc1	T	C	12: 74,018,773 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,722,426 (GRCm39)	D918G	possibly damaging	Het
Steap4	T	G	5: 8,026,683 (GRCm39)	F215L	probably benign	Het
Tbc1d1	T	A	5: 64,435,364 (GRCm39)	S501T	probably damaging	Het
Tec	A	G	5: 72,926,117 (GRCm39)	Y312H	probably damaging	Het
Ticrr	C	A	7: 79,343,516 (GRCm39)	T1127K	possibly damaging	Het
Tlk2	A	G	11: 105,147,722 (GRCm39)	D438G	probably benign	Het
Tln2	C	A	9: 67,277,980 (GRCm39)	V343L	probably benign	Het
Tmem156	T	A	5: 65,231,148 (GRCm39)	I241F	probably damaging	Het
Tmtc1	G	T	6: 148,186,390 (GRCm39)	N559K	probably benign	Het
Trbv4	A	T	6: 41,036,696 (GRCm39)	I74F	probably benign	Het
Trmt1l	C	T	1: 151,328,899 (GRCm39)	P524S	probably damaging	Het
Trpa1	A	T	1: 14,956,040 (GRCm39)	C776*	probably null	Het
Ttc41	T	A	10: 86,599,830 (GRCm39)	S1043R	probably benign	Het
Ttn	A	G	2: 76,576,646 (GRCm39)	L24749S	probably damaging	Het
Ube2o	C	T	11: 116,471,942 (GRCm39)	G100R	probably damaging	Het
Unc5b	T	C	10: 60,609,532 (GRCm39)	E588G	possibly damaging	Het
Usp43	G	T	11: 67,770,922 (GRCm39)	Q571K	probably damaging	Het
Vmn1r127	G	A	7: 21,052,927 (GRCm39)	P287L	possibly damaging	Het
Wasf3	T	A	5: 146,397,857 (GRCm39)	M208K	possibly damaging	Het
Xab2	A	G	8: 3,663,000 (GRCm39)	F527S	possibly damaging	Het
Zfp644	T	G	5: 106,785,774 (GRCm39)	N258H	possibly damaging	Het
Zfp947	A	C	17: 22,364,594 (GRCm39)	F360C	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
R9423:Serpinb1a	UTSW	13	33,026,910 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GGGAATGAAACTCTAAGCTCTGC -3'
(R):5'- CTTGGAATTCATTGATGTCCACG -3'

Sequencing Primer
(F):5'- AGCTCTGCCTTGTATCTGTAAAG -3'
(R):5'- TGATGTCCACGTCAAACTGC -3'

Posted On

2022-03-25