Mutagenetix > Incidental Mutation

Incidental Mutation 'R1986:Serpina10'

220711

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

039998-MU

Accession Numbers

Essential gene?

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

Stock #

R1986 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103582934-103597681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103594514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 235 (I235T)

Ref Sequence

ENSEMBL: ENSMUSP00000113644 (fasta)

Gene Model

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

AlphaFold

Q8R121

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044231
AA Change: I235T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: I235T

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

possibly damaging
Transcript: ENSMUST00000121625
AA Change: I235T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: I235T

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,212,977 (GRCm39)	S105P	probably damaging	Het
9930111J21Rik2	T	A	11: 48,910,119 (GRCm39)	K771N	possibly damaging	Het
Abcc2	A	G	19: 43,818,318 (GRCm39)	E1268G	probably damaging	Het
Adamts4	T	C	1: 171,084,244 (GRCm39)	F574L	possibly damaging	Het
Adamts9	A	G	6: 92,773,375 (GRCm39)	V1165A	probably benign	Het
Agap2	A	T	10: 126,918,913 (GRCm39)	K430*	probably null	Het
Amn	G	T	12: 111,241,431 (GRCm39)	G232V	probably damaging	Het
Ank3	A	G	10: 69,703,258 (GRCm39)	E297G	probably damaging	Het
Arhgap45	T	C	10: 79,856,530 (GRCm39)	L26P	probably damaging	Het
Atp10b	C	A	11: 43,063,595 (GRCm39)	Q177K	probably benign	Het
Bbs10	A	T	10: 111,135,118 (GRCm39)	D77V	probably damaging	Het
Bltp2	A	T	11: 78,165,438 (GRCm39)	H1318L	probably damaging	Het
Bpifa1	T	A	2: 153,986,256 (GRCm39)	L127Q	probably damaging	Het
Brinp2	T	C	1: 158,074,348 (GRCm39)	N591S	probably damaging	Het
C2cd2	A	C	16: 97,671,471 (GRCm39)	V476G	probably damaging	Het
C7	T	A	15: 5,041,494 (GRCm39)	T471S	possibly damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Cadps2	A	G	6: 23,323,379 (GRCm39)	F1001L	probably damaging	Het
Ccdc188	T	C	16: 18,036,707 (GRCm39)	S216P	probably damaging	Het
Ccdc24	A	G	4: 117,729,213 (GRCm39)	L88P	probably damaging	Het
Dab1	T	C	4: 104,470,412 (GRCm39)	I65T	probably damaging	Het
Dock4	A	T	12: 40,780,062 (GRCm39)	D621V	probably damaging	Het
Drd5	A	T	5: 38,477,456 (GRCm39)	M150L	probably damaging	Het
Eef2k	T	A	7: 120,472,569 (GRCm39)	M94K	possibly damaging	Het
Epg5	A	G	18: 78,025,521 (GRCm39)		probably null	Het
Epsti1	T	C	14: 78,169,673 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,770,752 (GRCm39)	D754V	probably benign	Het
Fbxo6	A	G	4: 148,230,552 (GRCm39)	Y237H	probably damaging	Het
Fbxw24	A	G	9: 109,436,124 (GRCm39)	S303P	probably damaging	Het
Fpr-rs3	A	T	17: 20,844,103 (GRCm39)		probably null	Het
Gab1	G	T	8: 81,493,010 (GRCm39)	T679K	probably damaging	Het
Gbp9	C	A	5: 105,253,590 (GRCm39)	V42F	probably damaging	Het
Gbp9	A	T	5: 105,253,652 (GRCm39)	V21E	probably damaging	Het
Gm20821	A	G	Y: 9,783,927 (GRCm39)	Q183R	probably benign	Het
Gpatch11	A	T	17: 79,151,266 (GRCm39)	I226F	probably benign	Het
Hephl1	T	G	9: 14,965,848 (GRCm39)	E1035A	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Ifna13	A	G	4: 88,562,588 (GRCm39)	V12A	probably benign	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Irgm2	A	G	11: 58,110,384 (GRCm39)	D37G	probably benign	Het
Irs1	A	G	1: 82,266,486 (GRCm39)	S577P	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Krtap4-16	T	C	11: 99,742,322 (GRCm39)	Q26R	unknown	Het
Lig1	T	A	7: 13,043,067 (GRCm39)	Y837*	probably null	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Map3k20	C	T	2: 72,271,638 (GRCm39)	Q589*	probably null	Het
Masp1	T	G	16: 23,302,211 (GRCm39)	M347L	probably benign	Het
Mgat3	A	T	15: 80,096,390 (GRCm39)	I406F	probably benign	Het
Mmp1b	T	G	9: 7,368,577 (GRCm39)	D425A	probably benign	Het
Mss51	T	C	14: 20,533,259 (GRCm39)	H404R	probably benign	Het
Myo15b	A	T	11: 115,773,701 (GRCm39)	H1911L	probably benign	Het
Nedd4l	A	G	18: 65,276,874 (GRCm39)	D102G	probably damaging	Het
Niban3	T	A	8: 72,056,404 (GRCm39)	I368N	possibly damaging	Het
Npc2	T	C	12: 84,807,523 (GRCm39)	K112E	probably benign	Het
Nuggc	T	A	14: 65,879,370 (GRCm39)	V694E	probably damaging	Het
Olfm1	T	G	2: 28,104,718 (GRCm39)	V157G	probably benign	Het
Or10h28	T	C	17: 33,488,489 (GRCm39)	S264P	probably benign	Het
Or5p55	T	C	7: 107,566,877 (GRCm39)	V91A	probably benign	Het
Otogl	T	A	10: 107,630,051 (GRCm39)		probably null	Het
Ovgp1	G	A	3: 105,882,251 (GRCm39)	C38Y	probably damaging	Het
Pisd	A	T	5: 32,894,672 (GRCm39)	S344T	probably damaging	Het
Psme4	T	C	11: 30,780,352 (GRCm39)	V840A	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Rin2	T	A	2: 145,720,860 (GRCm39)	M731K	probably damaging	Het
Scgb1b19	T	C	7: 32,987,108 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,901,759 (GRCm39)	E636V	probably damaging	Het
Sh3d21	C	T	4: 126,056,290 (GRCm39)	E101K	probably damaging	Het
Ski	T	G	4: 155,306,148 (GRCm39)	D225A	probably damaging	Het
Slc28a2b	A	G	2: 122,357,910 (GRCm39)	T655A	probably benign	Het
Slc29a3	T	C	10: 60,559,593 (GRCm39)	Y187C	probably damaging	Het
Sort1	T	A	3: 108,253,043 (GRCm39)	D494E	possibly damaging	Het
Sphkap	A	T	1: 83,255,643 (GRCm39)	L702Q	probably damaging	Het
Srr	A	G	11: 74,799,545 (GRCm39)	I285T	probably damaging	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Suds3	A	T	5: 117,246,417 (GRCm39)	N112K	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tesk2	T	C	4: 116,608,390 (GRCm39)	L104P	probably damaging	Het
Tie1	C	T	4: 118,336,160 (GRCm39)	R702H	probably benign	Het
Tpo	G	T	12: 30,169,465 (GRCm39)	A90E	probably damaging	Het
Trim30a	T	C	7: 104,060,672 (GRCm39)	D368G	probably damaging	Het
Ugt2a2	A	T	5: 87,608,438 (GRCm39)	M633K	possibly damaging	Het
Vars2	A	G	17: 35,970,953 (GRCm39)	W626R	probably damaging	Het
Vmn2r10	A	T	5: 109,154,120 (GRCm39)	Y61*	probably null	Het
Vmn2r95	T	C	17: 18,671,805 (GRCm39)	V514A	probably benign	Het
Vwa5a	T	G	9: 38,649,110 (GRCm39)		probably benign	Het
Zfp365	A	T	10: 67,745,686 (GRCm39)	C31S	probably damaging	Het
Zfp397	A	T	18: 24,093,108 (GRCm39)	I198F	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp593	T	C	4: 133,972,206 (GRCm39)	E100G	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
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
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'- GACTAGGTCCCTCCTCAGTGTATAC -3'
(R):5'- AGGGTAGCTTTGCCTTCATCC -3'

Sequencing Primer
(F):5'- AGTGTATACTGAAGCCGCG -3'
(R):5'- GGTAGCTTTGCCTTCATCCACAAG -3'

Posted On

2014-08-25