Mutagenetix > Incidental Mutation

Incidental Mutation 'R5506:Serpina10'

430939

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

043067-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103582934-103597681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103592920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 264 (D264G)

Ref Sequence

ENSEMBL: ENSMUSP00000113644 (fasta)

Gene Model

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

AlphaFold

Q8R121

Predicted Effect

probably damaging
Transcript: ENSMUST00000044231
AA Change: D318G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: D318G

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: D264G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: D264G

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

Meta Mutation Damage Score

0.0890

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (53/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,773,708 (GRCm39)	G966W	probably damaging	Het
A930009A15Rik	G	T	10: 115,414,267 (GRCm39)		probably null	Het
Cant1	G	T	11: 118,302,268 (GRCm39)	H16Q	probably benign	Het
Capn3	G	T	2: 120,332,901 (GRCm39)	V612F	probably damaging	Het
Cep112	A	T	11: 108,555,429 (GRCm39)	E141D	probably damaging	Het
Cept1	A	G	3: 106,438,564 (GRCm39)	V173A	probably benign	Het
CN725425	A	G	15: 91,120,029 (GRCm39)	D50G	possibly damaging	Het
Cubn	A	T	2: 13,496,506 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dpp8	A	G	9: 64,985,391 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,169 (GRCm39)	T377I	probably benign	Het
Exosc8	A	G	3: 54,638,600 (GRCm39)		probably benign	Het
Fasn	C	T	11: 120,700,336 (GRCm39)	D2165N	probably benign	Het
Gab2	A	G	7: 96,952,320 (GRCm39)	E571G	probably damaging	Het
Galnt5	C	A	2: 57,889,637 (GRCm39)	H412Q	probably benign	Het
Galr1	T	A	18: 82,423,989 (GRCm39)	Y96F	possibly damaging	Het
Garin1b	G	A	6: 29,319,297 (GRCm39)	E34K	probably damaging	Het
Gnl2	C	A	4: 124,949,158 (GRCm39)		probably benign	Het
H2ac22	A	C	13: 21,971,081 (GRCm39)	I103S	probably damaging	Het
H2ax	T	C	9: 44,246,402 (GRCm39)	V115A	probably benign	Het
Heatr9	T	C	11: 83,405,592 (GRCm39)	N317S	possibly damaging	Het
Kndc1	A	G	7: 139,507,804 (GRCm39)	Y1254C	probably damaging	Het
Lrp6	A	T	6: 134,436,259 (GRCm39)	D1302E	probably benign	Het
Mc2r	A	T	18: 68,541,019 (GRCm39)	Y91*	probably null	Het
Meis1	T	G	11: 18,891,747 (GRCm39)	D267A	possibly damaging	Het
Mki67	T	C	7: 135,301,710 (GRCm39)	K1108R	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh3	T	G	11: 66,974,915 (GRCm39)	D219E	probably damaging	Het
Niban2	G	A	2: 32,810,994 (GRCm39)	V335M	probably damaging	Het
Or10g1b	T	C	14: 52,628,084 (GRCm39)	I49V	probably damaging	Het
Or7e166	T	C	9: 19,624,570 (GRCm39)	L149P	possibly damaging	Het
Pi4ka	A	G	16: 17,111,817 (GRCm39)	C1553R	probably damaging	Het
Plekhb1	C	A	7: 100,294,150 (GRCm39)		probably null	Het
Polr3d	A	T	14: 70,678,199 (GRCm39)	D165E	possibly damaging	Het
Prb1c	T	C	6: 132,338,819 (GRCm39)	N133S	unknown	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Rab11fip5	A	G	6: 85,351,119 (GRCm39)	L131P	probably damaging	Het
Raph1	A	T	1: 60,532,657 (GRCm39)		probably benign	Het
Rmc1	A	G	18: 12,322,013 (GRCm39)		probably benign	Het
Scgb2b27	T	G	7: 33,711,484 (GRCm39)		probably benign	Het
Sftpb	A	G	6: 72,281,651 (GRCm39)	T15A	possibly damaging	Het
Slc20a1	T	C	2: 129,052,739 (GRCm39)	F674L	probably benign	Het
Syne2	A	T	12: 75,985,495 (GRCm39)	N1648Y	probably benign	Het
Thsd7a	G	T	6: 12,332,016 (GRCm39)	N1265K	possibly damaging	Het
Trem2	T	C	17: 48,658,802 (GRCm39)	L189P	probably benign	Het
Washc4	A	T	10: 83,417,201 (GRCm39)	R865S	probably damaging	Het
Zfp536	A	G	7: 37,268,217 (GRCm39)	S400P	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
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
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'- GGCCTAACCAGGATTGATGC -3'
(R):5'- TCACTGAGGCCGACACTTTC -3'

Sequencing Primer
(F):5'- CCTAACCAGGATTGATGCTCAGG -3'
(R):5'- TTTCCACCTGGACAAGTACAG -3'

Posted On

2016-10-05