Mutagenetix > Incidental Mutation

Incidental Mutation 'R9335:Serpinb3a'

707037

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

Accession Numbers

Essential gene?

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

Stock #

R9335 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106973317-106980033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106974886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 216 (F216V)

Ref Sequence

ENSEMBL: ENSMUSP00000027567 (fasta)

Gene Model

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

AlphaFold

G3X9V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027567
AA Change: F216V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: F216V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112717
AA Change: F216V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: F216V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 90,852,830 (GRCm39)	T102K	probably damaging	Het
Afm	A	T	5: 90,698,086 (GRCm39)	D496V	probably damaging	Het
Aldh1l2	C	T	10: 83,342,510 (GRCm39)	M546I	probably damaging	Het
Apol7c	G	T	15: 77,409,889 (GRCm39)	N352K	probably benign	Het
Arfgef1	A	T	1: 10,228,236 (GRCm39)	D1319E	probably damaging	Het
Atl2	A	G	17: 80,160,207 (GRCm39)	I460T	probably benign	Het
Brms1l	C	A	12: 55,888,431 (GRCm39)	T73K	possibly damaging	Het
C1rl	A	T	6: 124,482,341 (GRCm39)	H154L	probably benign	Het
Cacna2d4	T	A	6: 119,279,014 (GRCm39)	L709Q	probably damaging	Het
Cd101	A	T	3: 100,915,431 (GRCm39)	V716D	probably benign	Het
Cd177	A	G	7: 24,443,711 (GRCm39)	S796P	probably benign	Het
D430041D05Rik	A	T	2: 104,078,674 (GRCm39)	M530K	probably damaging	Het
Dcbld2	A	T	16: 58,272,141 (GRCm39)	Q399L	probably benign	Het
Dennd4b	T	C	3: 90,175,611 (GRCm39)	Y138H	probably damaging	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnai2	A	G	11: 114,625,489 (GRCm39)	I107V	probably benign	Het
Dync2h1	A	C	9: 7,112,149 (GRCm39)	V2480G	possibly damaging	Het
Ect2l	T	A	10: 18,077,032 (GRCm39)	T24S	probably null	Het
Egfr	C	A	11: 16,820,991 (GRCm39)	T302K	probably damaging	Het
Eid1	T	G	2: 125,515,578 (GRCm39)	I156S	possibly damaging	Het
Elmod1	A	T	9: 53,843,116 (GRCm39)	W21R	probably benign	Het
Enah	G	A	1: 181,749,450 (GRCm39)	P463L	probably damaging	Het
Epha7	A	G	4: 28,966,529 (GRCm39)	Y602C	probably benign	Het
Ermap	T	A	4: 119,035,545 (GRCm39)	Y481F	probably damaging	Het
Fam114a2	G	T	11: 57,397,748 (GRCm39)	T231N	possibly damaging	Het
Gdap1	A	G	1: 17,231,389 (GRCm39)	T245A	probably benign	Het
Glmp	T	A	3: 88,235,563 (GRCm39)	V368D	probably damaging	Het
Gm10203	C	T	6: 149,031,815 (GRCm39)	A40V	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hao2	C	A	3: 98,791,010 (GRCm39)	V55L	possibly damaging	Het
Hemgn	A	T	4: 46,394,647 (GRCm39)	S488T	probably benign	Het
Ighv12-3	C	T	12: 114,330,312 (GRCm39)	G61E	probably damaging	Het
Itga2b	T	C	11: 102,346,478 (GRCm39)	E986G	probably damaging	Het
Laptm5	T	G	4: 130,656,839 (GRCm39)	S167A		Het
Lmtk3	A	T	7: 45,442,165 (GRCm39)	Y377F	probably damaging	Het
Lrp2	A	G	2: 69,258,983 (GRCm39)	I4569T	probably benign	Het
Magi2	A	G	5: 20,866,263 (GRCm39)	N176D		Het
Mcf2l	C	A	8: 13,050,812 (GRCm39)	H356N	possibly damaging	Het
Mettl4	T	A	17: 95,042,936 (GRCm39)	Y300F	probably damaging	Het
Naaladl2	T	G	3: 24,467,532 (GRCm39)	K307N	possibly damaging	Het
Or1a1b	T	A	11: 74,097,832 (GRCm39)	D70V	probably damaging	Het
Or2aj4	G	A	16: 19,385,513 (GRCm39)	T40I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or6c8b	C	T	10: 128,882,614 (GRCm39)	G106E	probably damaging	Het
Phip	T	A	9: 82,814,979 (GRCm39)	M248L	probably benign	Het
Picalm	A	G	7: 89,825,491 (GRCm39)	T300A	probably benign	Het
Ppa1	T	G	10: 61,484,562 (GRCm39)	V19G	possibly damaging	Het
Ppp4r3a	T	C	12: 101,007,013 (GRCm39)	Y793C	probably damaging	Het
Prlr	A	T	15: 10,325,357 (GRCm39)	I177F	probably benign	Het
Prodh	C	A	16: 17,894,160 (GRCm39)	G457V	probably damaging	Het
Prrt3	T	C	6: 113,475,058 (GRCm39)	K55E	probably benign	Het
Prx	G	T	7: 27,217,496 (GRCm39)	V805L	probably damaging	Het
Ptk6	T	G	2: 180,844,146 (GRCm39)	D51A	probably damaging	Het
Rec114	T	A	9: 58,565,041 (GRCm39)	Q205L	probably null	Het
Rfwd3	T	G	8: 112,006,567 (GRCm39)	K510Q	possibly damaging	Het
Sdhb	C	T	4: 140,700,250 (GRCm39)	R117C	probably benign	Het
Serinc2	T	G	4: 130,158,220 (GRCm39)	T21P	probably benign	Het
Sertm1	T	C	3: 54,806,929 (GRCm39)	D32G	probably damaging	Het
Setx	A	G	2: 29,035,963 (GRCm39)	D816G	probably benign	Het
Sfxn4	T	A	19: 60,839,494 (GRCm39)	N188I	probably damaging	Het
Slc26a4	T	C	12: 31,575,553 (GRCm39)	D711G	probably damaging	Het
Sp9	T	C	2: 73,104,621 (GRCm39)	F392L	probably damaging	Het
Ssbp1	T	C	6: 40,454,955 (GRCm39)	L138P	probably damaging	Het
Sv2a	G	A	3: 96,092,588 (GRCm39)	G96E	probably damaging	Het
Tbc1d9	G	T	8: 83,937,160 (GRCm39)	G81C	possibly damaging	Het
Tmem67	G	A	4: 12,040,640 (GRCm39)	Q968*	probably null	Het
Tnni2	T	C	7: 141,998,003 (GRCm39)	S169P	probably damaging	Het
Tpk1	T	C	6: 43,446,084 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,216,123 (GRCm39)	Y141N	possibly damaging	Het
Unc13b	A	T	4: 43,255,551 (GRCm39)	E1057D	probably damaging	Het
Usf3	G	T	16: 44,041,936 (GRCm39)	G2139C	probably damaging	Het
Vmn1r36	A	T	6: 66,693,430 (GRCm39)	Y148*	probably null	Het
Vmn2r42	A	C	7: 8,197,758 (GRCm39)	M287R	probably damaging	Het
Vmn2r60	A	T	7: 41,844,332 (GRCm39)	H565L	probably damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp974	A	T	7: 27,611,476 (GRCm39)	M83K	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
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
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'- GGTGAGACACAATATCTCCCTTTAAAC -3'
(R):5'- TGTGTAGACCTCAAAACACCTC -3'

Sequencing Primer
(F):5'- CCTGCTTCAGACCATTGA -3'
(R):5'- ACACCTCAGCGTTATGTCTTCAAAG -3'

Posted On

2022-04-18