Mutagenetix > Incidental Mutation

Incidental Mutation 'R0416:Serpinb3a'

40292

Institutional Source

Beutler Lab

Gene Symbol

Serpinb3a

Ensembl Gene

ENSMUSG00000044594

Gene Name

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

Synonyms

Sqn5

MMRRC Submission

038618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106973317-106980033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106977116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 95 (A95S)

Ref Sequence

ENSEMBL: ENSMUSP00000108337 (fasta)

Gene Model

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

AlphaFold

G3X9V8

Predicted Effect

probably benign
Transcript: ENSMUST00000027567
AA Change: A95S

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: A95S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112717
AA Change: A95S

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: A95S

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

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,162,779 (GRCm39)	I18V	probably benign	Het
Adamdec1	T	G	14: 68,806,161 (GRCm39)	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,565,646 (GRCm39)		probably null	Het
Ankrd44	T	G	1: 54,782,498 (GRCm39)	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,481,290 (GRCm39)	N86K	probably damaging	Het
Arih1	T	A	9: 59,333,993 (GRCm39)		probably benign	Het
Astn1	T	A	1: 158,337,461 (GRCm39)	I389N	probably damaging	Het
Brca2	T	C	5: 150,492,857 (GRCm39)	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 29,822,645 (GRCm39)		probably benign	Het
Ccl7	C	A	11: 81,936,692 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,486 (GRCm39)	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,197,641 (GRCm39)		probably benign	Het
Cep89	T	A	7: 35,115,827 (GRCm39)		probably benign	Het
Cmya5	T	G	13: 93,226,364 (GRCm39)	N2908T	probably benign	Het
Coil	T	C	11: 88,872,812 (GRCm39)	L391S	possibly damaging	Het
Cpd	C	T	11: 76,676,030 (GRCm39)	V1208I	probably benign	Het
Ddx19a	T	C	8: 111,705,689 (GRCm39)	D254G	probably damaging	Het
Desi2	T	A	1: 178,083,887 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,874,793 (GRCm39)	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,084,642 (GRCm39)	L53H	probably damaging	Het
Etv2	T	C	7: 30,334,058 (GRCm39)	Y225C	probably benign	Het
F10	G	A	8: 13,105,448 (GRCm39)	A338T	probably damaging	Het
Fam228b	T	A	12: 4,812,382 (GRCm39)	D132V	probably damaging	Het
Fat2	T	A	11: 55,174,960 (GRCm39)	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,393,251 (GRCm39)	S214F	probably damaging	Het
Glyat	G	A	19: 12,628,817 (GRCm39)	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,395,182 (GRCm39)		noncoding transcript	Het
Ino80d	G	T	1: 63,125,435 (GRCm39)	T9K	possibly damaging	Het
Lifr	A	T	15: 7,196,395 (GRCm39)	D193V	probably damaging	Het
Lrp12	G	T	15: 39,742,307 (GRCm39)		probably benign	Het
Lrp3	A	G	7: 34,901,778 (GRCm39)	V701A	probably benign	Het
Mfsd11	T	A	11: 116,756,708 (GRCm39)		probably benign	Het
Mrto4	A	T	4: 139,077,043 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,568,708 (GRCm39)	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,827,976 (GRCm39)	D168G	probably damaging	Het
Myo15a	T	A	11: 60,402,000 (GRCm39)	V3099E	probably damaging	Het
Myrf	T	C	19: 10,193,176 (GRCm39)		probably null	Het
Nadk	C	A	4: 155,672,256 (GRCm39)		probably benign	Het
Nav1	T	C	1: 135,398,864 (GRCm39)	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,728,732 (GRCm39)	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,446,750 (GRCm39)		probably benign	Het
Nlrx1	T	G	9: 44,174,211 (GRCm39)	D330A	probably benign	Het
Or2a56	G	A	6: 42,932,504 (GRCm39)	C24Y	probably benign	Het
Or2t49	T	C	11: 58,393,222 (GRCm39)	I53M	unknown	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pcnx1	A	T	12: 82,021,240 (GRCm39)	I1410F	probably benign	Het
Piezo2	G	A	18: 63,157,562 (GRCm39)	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,473,436 (GRCm39)	K358*	probably null	Het
Polg	T	C	7: 79,101,988 (GRCm39)		probably benign	Het
Prr14l	T	A	5: 32,986,061 (GRCm39)	I1145F	probably benign	Het
Psmb1	C	T	17: 15,714,781 (GRCm39)	V39I	probably benign	Het
Ptk6	T	C	2: 180,844,101 (GRCm39)	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,316,062 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,694,029 (GRCm39)	Y1801H	probably damaging	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Sik2	A	T	9: 50,906,932 (GRCm39)	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,641,838 (GRCm39)	P495S	probably benign	Het
Smg1	A	T	7: 117,783,684 (GRCm39)		probably benign	Het
Stk3	T	A	15: 35,114,778 (GRCm39)	I45L	probably benign	Het
Tapbp	A	G	17: 34,144,392 (GRCm39)	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,113,051 (GRCm39)	K410E	probably damaging	Het
Trim30b	A	T	7: 104,012,973 (GRCm39)	M152K	probably benign	Het
Trpm6	G	T	19: 18,760,389 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,742,743 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,367,660 (GRCm39)	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,661,664 (GRCm39)	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,154,200 (GRCm39)	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,106,503 (GRCm39)	H198L	probably damaging	Het
Zmym1	A	G	4: 126,952,613 (GRCm39)	L56P	probably benign	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
IGL02508:Serpinb3a	APN	1	106,973,802 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTAGGCTCCTGAACAATCCAGTGAA -3'
(R):5'- TCTAGTCCTCAGATGAATTGTGGGCA -3'

Sequencing Primer
(F):5'- ATGAAGTAGGTGGTCCTTGAGC -3'
(R):5'- gagagagagagagagagggag -3'

Posted On

2013-05-23