Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Serpinb3a'

296422

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb3a

Ensembl Gene

ENSMUSG00000044594

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A

Synonyms

Sqn5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

106973317-106980033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106973802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 370 (I370F)

Ref Sequence

ENSEMBL: ENSMUSP00000108337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]

AlphaFold

G3X9V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027567
AA Change: I370F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: I370F

Domain	Start	End	E-Value	Type
SERPIN	13	387	6.36e-182	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112717
AA Change: I370F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: I370F

Domain	Start	End	E-Value	Type
SERPIN	13	387	6.36e-182	SMART

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 serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to allergen-induced airway hyperresponsiveness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly damaging	Het

Other mutations in Serpinb3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Serpinb3a	APN	1	106,978,789 (GRCm39)	nonsense	probably null
IGL01940:Serpinb3a	APN	1	106,973,915 (GRCm39)	missense	probably damaging	1.00
IGL02077:Serpinb3a	APN	1	106,974,111 (GRCm39)	missense	probably damaging	0.99
IGL02136:Serpinb3a	APN	1	106,974,015 (GRCm39)	missense	probably benign	0.15
IGL02214:Serpinb3a	APN	1	106,976,218 (GRCm39)	critical splice donor site	probably null
IGL02239:Serpinb3a	APN	1	106,979,418 (GRCm39)	missense	probably benign	0.05
IGL02533:Serpinb3a	APN	1	106,974,892 (GRCm39)	missense	probably benign	0.00
IGL02860:Serpinb3a	APN	1	106,977,183 (GRCm39)	splice site	probably benign
IGL03013:Serpinb3a	APN	1	106,973,813 (GRCm39)	missense	probably damaging	1.00
IGL03391:Serpinb3a	APN	1	106,974,072 (GRCm39)	missense	possibly damaging	0.81
R0321:Serpinb3a	UTSW	1	106,975,212 (GRCm39)	nonsense	probably null
R0416:Serpinb3a	UTSW	1	106,977,116 (GRCm39)	missense	probably benign	0.29
R0494:Serpinb3a	UTSW	1	106,975,212 (GRCm39)	nonsense	probably null
R0498:Serpinb3a	UTSW	1	106,974,880 (GRCm39)	missense	probably damaging	1.00
R1223:Serpinb3a	UTSW	1	106,975,282 (GRCm39)	missense	probably damaging	1.00
R1596:Serpinb3a	UTSW	1	106,974,904 (GRCm39)	missense	probably benign	0.12
R1655:Serpinb3a	UTSW	1	106,973,942 (GRCm39)	missense	probably damaging	1.00
R2156:Serpinb3a	UTSW	1	106,975,202 (GRCm39)	critical splice donor site	probably null
R2296:Serpinb3a	UTSW	1	106,975,291 (GRCm39)	missense	probably damaging	1.00
R4327:Serpinb3a	UTSW	1	106,979,500 (GRCm39)	start codon destroyed	probably damaging	1.00
R4612:Serpinb3a	UTSW	1	106,975,337 (GRCm39)	missense	probably damaging	0.99
R4830:Serpinb3a	UTSW	1	106,976,316 (GRCm39)	missense	probably benign	0.00
R5016:Serpinb3a	UTSW	1	106,974,060 (GRCm39)	missense	probably damaging	1.00
R5483:Serpinb3a	UTSW	1	106,974,899 (GRCm39)	missense	probably benign	0.16
R5619:Serpinb3a	UTSW	1	106,974,838 (GRCm39)	missense	probably damaging	1.00
R7227:Serpinb3a	UTSW	1	106,979,359 (GRCm39)	missense	probably damaging	1.00
R8277:Serpinb3a	UTSW	1	106,973,970 (GRCm39)	missense	probably damaging	1.00
R8526:Serpinb3a	UTSW	1	106,976,504 (GRCm39)	splice site	probably null
R8992:Serpinb3a	UTSW	1	106,974,907 (GRCm39)	missense	probably damaging	0.97
R9335:Serpinb3a	UTSW	1	106,974,886 (GRCm39)	missense	probably damaging	1.00
R9799:Serpinb3a	UTSW	1	106,974,892 (GRCm39)	missense	probably benign	0.00
Z1177:Serpinb3a	UTSW	1	106,978,738 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16