Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:Serpinb3a'

324396

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

041097-MU

Accession Numbers

Essential gene?

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

Stock #

R4327 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106973317-106980033 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 106979500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

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: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: M1L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112717
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: M1L

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,221,664 (GRCm39)	D55G	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cela3b	G	T	4: 137,151,242 (GRCm39)	A137E	probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Klhl28	G	A	12: 64,996,952 (GRCm39)	A463V	probably damaging	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,187,562 (GRCm39)	T143K	probably benign	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	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
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
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

Posted On

2015-06-24