Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Serpina10'

636277

Institutional Source

Beutler Lab

Gene Symbol

Serpina10

Ensembl Gene

ENSMUSG00000061947

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10

Synonyms

PZI

MMRRC Submission

067655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103582934-103597681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103594536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 228 (I228V)

Ref Sequence

ENSEMBL: ENSMUSP00000048357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044231] [ENSMUST00000121625]

AlphaFold

Q8R121

PDB Structure

The crystal structure of mouse protein-Z dependent protease inhibitor(mZPI) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000044231
AA Change: I228V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: I228V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
SERPIN	88	445	2.79e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121625
AA Change: I228V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: I228V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
SERPIN	88	391	3.12e-53	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the large serpin family of proteins, and is also known as serpin PZ-dependent protease inhibitor (ZPI or PZI). This protein is thought to play an important role in the regulation of coagulation. It directly inhibits factor XIa, and also inhibits factor Xa in the presence of calcium, phospholipids, and protein Z (PZ). Deficiencies in this gene lead to an increase in thrombosis. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display a reduced survival rate, enhanced thrombosis after ferric chloride-induced carotid artery injury, and increased mortality from pulmonary thromboembolism following collagen/epinephrine infusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Acss1	T	A	2: 150,461,630 (GRCm39)	D651V	possibly damaging	Het
Aktip	G	T	8: 91,851,494 (GRCm39)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,548,714 (GRCm39)	S175A	probably benign	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,844,190 (GRCm39)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,727,857 (GRCm39)		probably null	Het
Ccdc7b	C	A	8: 129,904,772 (GRCm39)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,724,338 (GRCm39)	E319K	unknown	Het
Chka	A	C	19: 3,935,882 (GRCm39)	E196A	probably damaging	Het
Depdc5	C	T	5: 33,094,981 (GRCm39)	R753C	probably damaging	Het
Dhx57	T	A	17: 80,582,585 (GRCm39)	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,668,952 (GRCm39)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,253,916 (GRCm39)	L164M	probably benign	Het
Dock6	A	G	9: 21,742,740 (GRCm39)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,006,897 (GRCm39)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm39)	S226T	probably benign	Het
Fgd6	A	T	10: 93,879,914 (GRCm39)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm39)	Y218*	probably null	Het
Filip1	C	A	9: 79,725,374 (GRCm39)	A1082S	probably benign	Het
Heatr5a	G	A	12: 51,938,226 (GRCm39)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,358,170 (GRCm39)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Igsf5	A	T	16: 96,174,188 (GRCm39)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,449,995 (GRCm39)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm39)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm39)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,456,368 (GRCm39)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,335,547 (GRCm39)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,267,855 (GRCm39)	E40D	probably benign	Het
Nhsl3	A	T	4: 129,115,252 (GRCm39)	V1070D	possibly damaging	Het
Npat	G	T	9: 53,481,870 (GRCm39)	E1193*	probably null	Het
Nrde2	G	A	12: 100,097,262 (GRCm39)	S846L	probably benign	Het
Nup205	T	C	6: 35,202,138 (GRCm39)	V1290A	probably benign	Het
Or10a49	C	A	7: 108,467,726 (GRCm39)	V212L	probably benign	Het
Or4d10b	A	G	19: 12,036,456 (GRCm39)	V220A	probably benign	Het
Or5g9	T	A	2: 85,551,845 (GRCm39)	L32Q	probably null	Het
Pde6a	A	T	18: 61,353,768 (GRCm39)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,851,589 (GRCm39)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,775,621 (GRCm39)	L30Q	probably damaging	Het
Pramel22	T	A	4: 143,380,755 (GRCm39)	M423L	probably benign	Het
Pramel30	A	T	4: 144,057,030 (GRCm39)	D71V	probably benign	Het
Prdm15	T	A	16: 97,608,260 (GRCm39)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,207,369 (GRCm39)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,328 (GRCm39)	T601M	possibly damaging	Het
Psen2	A	C	1: 180,073,256 (GRCm39)	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,769,699 (GRCm39)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 31,908,833 (GRCm39)	E89G	probably damaging	Het
Serpinb1a	T	A	13: 33,026,982 (GRCm39)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,225,364 (GRCm39)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,398,877 (GRCm39)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,193,151 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,669,137 (GRCm39)	M39V	probably benign	Het
Tgm7	A	G	2: 120,931,545 (GRCm39)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,897,094 (GRCm39)		probably null	Het
Trpv1	T	C	11: 73,145,077 (GRCm39)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,120,691 (GRCm39)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,283,695 (GRCm39)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,690,350 (GRCm39)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,168,020 (GRCm39)	A603V	probably benign	Het
Xirp2	T	A	2: 67,307,210 (GRCm39)	N19K	probably damaging	Het
Zfp397	T	A	18: 24,093,779 (GRCm39)	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Serpina10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02261:Serpina10	APN	12	103,583,208 (GRCm39)	missense	probably damaging	1.00
IGL02411:Serpina10	APN	12	103,583,202 (GRCm39)	missense	possibly damaging	0.94
R0051:Serpina10	UTSW	12	103,593,156 (GRCm39)	intron	probably benign
R0051:Serpina10	UTSW	12	103,593,156 (GRCm39)	intron	probably benign
R0526:Serpina10	UTSW	12	103,583,127 (GRCm39)	missense	probably damaging	1.00
R1387:Serpina10	UTSW	12	103,594,500 (GRCm39)	missense	probably benign
R1986:Serpina10	UTSW	12	103,594,514 (GRCm39)	missense	possibly damaging	0.95
R2277:Serpina10	UTSW	12	103,593,002 (GRCm39)	missense	probably benign	0.13
R4227:Serpina10	UTSW	12	103,594,674 (GRCm39)	missense	probably damaging	0.99
R5237:Serpina10	UTSW	12	103,595,075 (GRCm39)	missense	probably benign	0.39
R5506:Serpina10	UTSW	12	103,592,920 (GRCm39)	missense	probably damaging	1.00
R6144:Serpina10	UTSW	12	103,595,092 (GRCm39)	missense	probably benign	0.01
R6726:Serpina10	UTSW	12	103,594,628 (GRCm39)	missense	probably benign	0.40
R6819:Serpina10	UTSW	12	103,594,619 (GRCm39)	missense	probably benign	0.05
R7351:Serpina10	UTSW	12	103,595,194 (GRCm39)	missense	probably benign
R7780:Serpina10	UTSW	12	103,594,806 (GRCm39)	missense	probably benign	0.01
R8052:Serpina10	UTSW	12	103,594,569 (GRCm39)	missense	probably damaging	0.99
R8094:Serpina10	UTSW	12	103,595,032 (GRCm39)	small deletion	probably benign
R8318:Serpina10	UTSW	12	103,583,107 (GRCm39)	missense	possibly damaging	0.58
R8434:Serpina10	UTSW	12	103,594,563 (GRCm39)	missense	probably damaging	1.00
R8818:Serpina10	UTSW	12	103,595,063 (GRCm39)	missense	probably benign
R9526:Serpina10	UTSW	12	103,583,217 (GRCm39)	missense	probably damaging	1.00
Y4337:Serpina10	UTSW	12	103,590,735 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TTCTGGAAGACTAGGTCCCTCC -3'
(R):5'- GCTTTGCCTTCATCCACAAG -3'

Sequencing Primer
(F):5'- AAGACTAGGTCCCTCCTCAGTG -3'
(R):5'- GACCTATTTCAATCTCTCCAAG -3'

Posted On

2020-07-13