Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Serpina10'

570595

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

045437-MU

Accession Numbers

Essential gene?

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

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103582934-103597681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103595194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 8 (F8L)

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: F8L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: F8L

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: F8L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: F8L

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: 98.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	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
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'- ATTGGAGAGCTGCTGACTGG -3'
(R):5'- GCCCACACTTAACTTGGTAGG -3'

Sequencing Primer
(F):5'- AGCTGCTGACTGGCCCTC -3'
(R):5'- CCACACTTAACTTGGTAGGAAGGAAG -3'

Posted On

2019-09-13