Mutagenetix > Incidental Mutation

Incidental Mutation 'R8434:Serpina10'

660647

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

067900-MU

Accession Numbers

Essential gene?

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

Stock #

R8434 (G1)

Quality Score

70.0074

Status

Validated

Chromosome

Chromosomal Location

103582934-103597681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103594563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 219 (G219R)

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 damaging
Transcript: ENSMUST00000044231
AA Change: G219R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: G219R

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 damaging
Transcript: ENSMUST00000121625
AA Change: G219R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: G219R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,021 (GRCm39)	T737A	probably damaging	Het
2310034C09Rik	A	G	16: 88,556,260 (GRCm39)	Y158C	probably damaging	Het
Abhd18	T	A	3: 40,885,331 (GRCm39)	S239T	possibly damaging	Het
Ankrd13b	G	A	11: 77,368,552 (GRCm39)	T56I	probably benign	Het
Arhgef10l	T	A	4: 140,291,582 (GRCm39)	Q454L	possibly damaging	Het
Atp1a2	T	C	1: 172,112,179 (GRCm39)	E572G	probably benign	Het
Cdk5rap2	T	C	4: 70,282,257 (GRCm39)	H164R	probably benign	Het
Clca4b	A	G	3: 144,631,917 (GRCm39)	M196T	probably benign	Het
Cnbd1	T	G	4: 19,055,045 (GRCm39)	K127T	probably benign	Het
Cog3	A	T	14: 75,979,836 (GRCm39)	V165E	probably damaging	Het
Crim1	G	A	17: 78,654,686 (GRCm39)	R654H	probably benign	Het
Ctnnb1	G	A	9: 120,786,628 (GRCm39)	V617I	possibly damaging	Het
Dach1	T	A	14: 98,406,129 (GRCm39)	Q206L	probably damaging	Het
Dhx30	C	T	9: 109,929,974 (GRCm39)	V41I	probably benign	Het
Dnase2a	T	C	8: 85,636,410 (GRCm39)	L176P	probably damaging	Het
Dpp10	T	C	1: 123,360,739 (GRCm39)	D262G	probably damaging	Het
Dsel	T	A	1: 111,789,385 (GRCm39)	E383D	probably damaging	Het
Flt1	T	A	5: 147,576,253 (GRCm39)	Y585F	probably damaging	Het
Fubp1	T	A	3: 151,926,190 (GRCm39)	I304N	probably damaging	Het
Gab2	A	G	7: 96,948,337 (GRCm39)	D309G	probably damaging	Het
Gon4l	T	C	3: 88,762,086 (GRCm39)	V291A	probably damaging	Het
Gpam	C	T	19: 55,070,063 (GRCm39)	V398M	possibly damaging	Het
Grin3b	C	T	10: 79,810,422 (GRCm39)	R643C	probably damaging	Het
Hdac3	T	A	18: 38,074,475 (GRCm39)	H339L	possibly damaging	Het
Hsdl2	A	T	4: 59,610,621 (GRCm39)	Q326L	unknown	Het
Insr	T	C	8: 3,215,514 (GRCm39)		probably benign	Het
Ivl	T	A	3: 92,479,943 (GRCm39)	T41S	probably benign	Het
Lama4	C	T	10: 38,902,703 (GRCm39)	P226S	possibly damaging	Het
Lpin1	A	G	12: 16,613,621 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,104,721 (GRCm39)	N81K	probably damaging	Het
Mast4	A	T	13: 102,897,900 (GRCm39)	H838Q	probably damaging	Het
Mcmdc2	A	G	1: 9,990,806 (GRCm39)	M314V	possibly damaging	Het
Me3	A	G	7: 89,389,086 (GRCm39)	E130G	probably damaging	Het
Mpnd	A	G	17: 56,316,405 (GRCm39)	D28G	possibly damaging	Het
Mtch2	G	T	2: 90,683,208 (GRCm39)	E102*	probably null	Het
Myh13	A	T	11: 67,254,011 (GRCm39)		probably null	Het
Or10ag55-ps1	G	A	2: 87,114,978 (GRCm39)	V115I	probably benign	Het
Or5ae2	C	A	7: 84,506,497 (GRCm39)	H309N	probably benign	Het
Plch2	T	A	4: 155,074,192 (GRCm39)	D891V	probably damaging	Het
Ppfibp2	T	C	7: 107,327,957 (GRCm39)		probably null	Het
Rag1	A	G	2: 101,473,009 (GRCm39)	L711P	probably damaging	Het
Sacs	T	A	14: 61,450,636 (GRCm39)	Y4227*	probably null	Het
Sec23ip	C	T	7: 128,352,151 (GRCm39)	H176Y	probably benign	Het
Sema3a	T	C	5: 13,523,487 (GRCm39)		probably null	Het
Sp1	C	T	15: 102,318,118 (GRCm39)	L546F	probably benign	Het
Syne1	T	C	10: 5,073,057 (GRCm39)	N1256S	probably benign	Het
Tbc1d5	G	T	17: 51,089,455 (GRCm39)		probably benign	Het
Tns1	T	C	1: 73,964,765 (GRCm39)	S33G	probably benign	Het
Tpsab1	A	G	17: 25,564,445 (GRCm39)	L3P	possibly damaging	Het
Trgv3	A	G	13: 19,427,036 (GRCm39)	T8A	probably benign	Het
Vav2	A	T	2: 27,159,050 (GRCm39)		probably benign	Het
Vmn1r44	T	C	6: 89,870,610 (GRCm39)	S119P	possibly damaging	Het
Vmn2r31	A	G	7: 7,387,699 (GRCm39)	L624P	probably damaging	Het
Vps33a	A	T	5: 123,671,944 (GRCm39)	W475R	possibly damaging	Het
Xpnpep3	G	T	15: 81,311,795 (GRCm39)	R167L	possibly damaging	Het
Zfhx4	T	A	3: 5,463,918 (GRCm39)	S1384T	probably damaging	Het
Zfp3	G	A	11: 70,663,384 (GRCm39)	E448K	probably benign	Het
Zfp362	T	A	4: 128,679,769 (GRCm39)	H299L	probably damaging	Het
Zfp664	C	T	5: 124,962,827 (GRCm39)	L74F	possibly damaging	Het
Zfp808	A	G	13: 62,319,926 (GRCm39)	Y385C	probably 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
R8213:Serpina10	UTSW	12	103,594,536 (GRCm39)	missense	probably benign	0.01
R8318:Serpina10	UTSW	12	103,583,107 (GRCm39)	missense	possibly damaging	0.58
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'- GCAGAGCATCCTTCAGTACTAAG -3'
(R):5'- TTCCAGCCCTCTTCAAGAAGG -3'

Sequencing Primer
(F):5'- GTACTAAGTGTACTCTGACCAGAAG -3'
(R):5'- GCCCTCTTCAAGAAGGTCAAAGAG -3'

Posted On

2021-01-22