Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Serpinb3a'

35832

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

038531-MU

Accession Numbers

Essential gene?

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

Stock #

R0321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106973317-106980033 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 106975212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 198 (W198*)

Ref Sequence

ENSEMBL: ENSMUSP00000108337 (fasta)

Gene Model

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

AlphaFold

G3X9V8

Predicted Effect

probably null
Transcript: ENSMUST00000027567
AA Change: W198*

SMART Domains

Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: W198*

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

Predicted Effect

probably null
Transcript: ENSMUST00000112717
AA Change: W198*

SMART Domains

Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: W198*

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

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,620 (GRCm39)	T353A	probably benign	Het
4933402N03Rik	T	A	7: 130,747,956 (GRCm39)	Y12F	probably benign	Het
Acbd3	T	G	1: 180,579,870 (GRCm39)	F505V	probably damaging	Het
Acod1	T	C	14: 103,292,565 (GRCm39)	V363A	probably benign	Het
Adam28	T	C	14: 68,855,200 (GRCm39)	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,185,243 (GRCm39)	L296F	probably damaging	Het
Ap1b1	G	A	11: 4,982,464 (GRCm39)	A588T	probably benign	Het
Armc8	A	T	9: 99,415,230 (GRCm39)	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,164,251 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,960,937 (GRCm39)		probably null	Het
Carmil3	C	A	14: 55,739,698 (GRCm39)	D928E	possibly damaging	Het
Ccrl2	T	C	9: 110,885,279 (GRCm39)	N73S	probably damaging	Het
Cdk9	C	A	2: 32,602,698 (GRCm39)		probably benign	Het
Cel	G	T	2: 28,451,160 (GRCm39)	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 24,854,991 (GRCm39)		noncoding transcript	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,676,854 (GRCm39)	V801A	probably damaging	Het
Dnah10	A	G	5: 124,900,416 (GRCm39)	D3834G	probably benign	Het
Dnajc15	C	T	14: 78,112,273 (GRCm39)	A23T	possibly damaging	Het
Ell2	T	A	13: 75,910,007 (GRCm39)	L119Q	probably damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
F10	T	C	8: 13,103,413 (GRCm39)	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,812,587 (GRCm39)	N61S	probably benign	Het
Fam83c	C	T	2: 155,671,620 (GRCm39)	S605N	probably benign	Het
Fbxw15	C	T	9: 109,394,453 (GRCm39)	V121I	probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gfi1b	A	G	2: 28,503,897 (GRCm39)	F101S	probably damaging	Het
Gimap5	C	G	6: 48,727,449 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,385,699 (GRCm39)		probably null	Het
Gsn	T	C	2: 35,180,408 (GRCm39)	F188L	probably benign	Het
Hivep3	T	A	4: 119,952,788 (GRCm39)	I368N	possibly damaging	Het
Itih3	T	A	14: 30,634,063 (GRCm39)	I153F	probably damaging	Het
Kdm8	A	T	7: 125,060,178 (GRCm39)	Q360L	probably damaging	Het
Lars1	T	C	18: 42,335,697 (GRCm39)	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,740,286 (GRCm39)	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,661,892 (GRCm39)	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,217,764 (GRCm39)		probably benign	Het
Mtcl1	T	A	17: 66,686,426 (GRCm39)	T827S	probably damaging	Het
Muc5b	T	C	7: 141,415,972 (GRCm39)	S2973P	probably benign	Het
Mynn	T	C	3: 30,661,706 (GRCm39)	S263P	probably benign	Het
Myo1f	A	C	17: 33,811,986 (GRCm39)	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083 (GRCm39)	I288N	probably damaging	Het
Nutm2	T	G	13: 50,626,991 (GRCm39)	M382R	probably damaging	Het
Oprm1	T	C	10: 6,779,183 (GRCm39)	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,301,891 (GRCm39)	S619P	probably benign	Het
Phkg1	A	T	5: 129,898,365 (GRCm39)	M1K	probably null	Het
Pigc	C	T	1: 161,798,668 (GRCm39)	Q217*	probably null	Het
Pik3r4	T	A	9: 105,525,906 (GRCm39)	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,529,541 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prtg	A	T	9: 72,755,307 (GRCm39)	I259F	possibly damaging	Het
Prune2	T	G	19: 17,098,291 (GRCm39)	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,099,818 (GRCm39)	A1774V	probably benign	Het
Rcn3	A	G	7: 44,738,139 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,931 (GRCm39)	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,041,568 (GRCm39)		probably benign	Het
Smpdl3b	A	T	4: 132,468,755 (GRCm39)	V154E	probably damaging	Het
Spag17	T	C	3: 100,008,719 (GRCm39)	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,391,609 (GRCm39)	T131A	probably benign	Het
Tatdn2	T	G	6: 113,686,462 (GRCm39)	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,496,937 (GRCm39)	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444 (GRCm39)	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,772,583 (GRCm39)	C623*	probably null	Het
Tprg1l	T	C	4: 154,243,812 (GRCm39)	N115D	probably damaging	Het
Ube2t	C	T	1: 134,895,538 (GRCm39)	A4V	possibly damaging	Het
Vps41	G	A	13: 19,026,465 (GRCm39)		probably benign	Het
Wdr17	C	T	8: 55,149,303 (GRCm39)		probably null	Het
Wwc1	G	A	11: 35,732,637 (GRCm39)	Q1024*	probably null	Het
Zfand5	T	A	19: 21,253,879 (GRCm39)	N27K	probably damaging	Het
Zfp142	A	T	1: 74,608,873 (GRCm39)	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,629,042 (GRCm39)	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,667,947 (GRCm39)	G400S	probably benign	Het
Zswim3	C	T	2: 164,662,279 (GRCm39)	A253V	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCCTGCACATCCTCCAGAAAC -3'
(R):5'- GACAGAATGCCTGACAGCCTTTCC -3'

Sequencing Primer
(F):5'- CTCAGATAGCATTGTTGAGACACC -3'
(R):5'- CAGGAAAGCTCCTTGTACTGATG -3'

Posted On

2013-05-09