Incidental Mutation 'R0526:Serpina10'
ID 48945
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 038719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0526 (G1)
Quality Score 165
Status Not validated
Chromosome 12
Chromosomal Location 103582934-103597681 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103583127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 439 (L439Q)
Ref Sequence ENSEMBL: ENSMUSP00000048357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021631] [ENSMUST00000044231] [ENSMUST00000121625] [ENSMUST00000187155] [ENSMUST00000189871]
AlphaFold Q8R121
PDB Structure The crystal structure of mouse protein-Z dependent protease inhibitor(mZPI) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000021631
SMART Domains Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209

DomainStartEndE-ValueType
SCOP:d1gw5a_ 55 577 6e-27 SMART
PDB:3FGA|A 178 666 8e-6 PDB
coiled coil region 690 726 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000044231
AA Change: L439Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: L439Q

DomainStartEndE-ValueType
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: L385Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: L385Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
SERPIN 88 391 3.12e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187155
SMART Domains Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209

DomainStartEndE-ValueType
Pfam:HEAT 145 175 2.8e-3 PFAM
low complexity region 484 495 N/A INTRINSIC
coiled coil region 581 617 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189871
SMART Domains Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209

DomainStartEndE-ValueType
SCOP:d1gw5a_ 95 577 7e-26 SMART
PDB:1B3U|B 178 666 2e-6 PDB
coiled coil region 690 726 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,535 (GRCm39) N230I possibly damaging Het
4933427D14Rik G T 11: 72,060,609 (GRCm39) Q687K probably damaging Het
Actrt2 A G 4: 154,751,869 (GRCm39) L89P probably damaging Het
Adamts1 A C 16: 85,599,260 (GRCm39) S113R probably benign Het
Agxt2 G T 15: 10,373,948 (GRCm39) C118F probably damaging Het
Akap8 G A 17: 32,536,266 (GRCm39) T49I probably benign Het
Alk A T 17: 72,176,748 (GRCm39) W1519R probably damaging Het
Atf7ip T A 6: 136,536,803 (GRCm39) F12Y probably damaging Het
Atp13a5 A G 16: 29,167,558 (GRCm39) C131R probably damaging Het
Atp8b4 A G 2: 126,269,283 (GRCm39) L168P probably damaging Het
Blm G T 7: 80,155,641 (GRCm39) S346* probably null Het
Ccnt2 T G 1: 127,727,182 (GRCm39) C199G probably damaging Het
Cd151 A T 7: 141,050,504 (GRCm39) H219L probably damaging Het
Cd200r2 A T 16: 44,735,410 (GRCm39) R248S probably damaging Het
Cdh3 A G 8: 107,282,078 (GRCm39) D822G possibly damaging Het
Clec4b1 T C 6: 123,046,729 (GRCm39) probably null Het
Cluh C A 11: 74,556,812 (GRCm39) L951I probably benign Het
Cog7 A T 7: 121,562,494 (GRCm39) probably null Het
Col25a1 C A 3: 130,270,043 (GRCm39) P197Q probably damaging Het
Csde1 T A 3: 102,963,742 (GRCm39) S636R possibly damaging Het
Ect2l C A 10: 18,075,688 (GRCm39) C66F possibly damaging Het
Elac2 T C 11: 64,890,262 (GRCm39) M671T probably benign Het
Evi5 T C 5: 107,969,614 (GRCm39) N143S probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fbxo38 A G 18: 62,639,051 (GRCm39) Y1084H probably damaging Het
Fcgr4 T A 1: 170,856,760 (GRCm39) L209Q probably damaging Het
Fgd3 C T 13: 49,450,000 (GRCm39) S83N probably benign Het
Gigyf2 T A 1: 87,349,215 (GRCm39) M664K probably benign Het
Il27ra A T 8: 84,766,128 (GRCm39) S219T probably benign Het
Itprid2 A G 2: 79,487,690 (GRCm39) D591G probably benign Het
Kif15 T C 9: 122,826,862 (GRCm39) V800A probably damaging Het
Lmo7 T A 14: 102,137,996 (GRCm39) D666E probably damaging Het
Lrp5 T C 19: 3,678,295 (GRCm39) D520G probably damaging Het
Lrriq3 T A 3: 154,893,934 (GRCm39) M545K probably benign Het
Lsm5 T A 6: 56,680,310 (GRCm39) D44V probably damaging Het
Man1c1 G T 4: 134,296,379 (GRCm39) Y430* probably null Het
Map4 T A 9: 109,866,346 (GRCm39) probably null Het
Megf6 A G 4: 154,343,398 (GRCm39) K561R probably benign Het
Myo1e T C 9: 70,229,680 (GRCm39) Y173H probably damaging Het
Myo6 T A 9: 80,190,823 (GRCm39) S791R possibly damaging Het
Nol11 C A 11: 107,075,597 (GRCm39) E144* probably null Het
Ntng2 C T 2: 29,087,074 (GRCm39) R416Q probably damaging Het
Nxpe3 T A 16: 55,686,880 (GRCm39) I43F possibly damaging Het
Or4g17 T A 2: 111,209,837 (GRCm39) V164E possibly damaging Het
Or5t5 A T 2: 86,616,691 (GRCm39) T206S possibly damaging Het
Pkd1l2 T C 8: 117,808,999 (GRCm39) I64V probably damaging Het
Prf1 G A 10: 61,136,033 (GRCm39) R103H probably benign Het
Rest A G 5: 77,428,874 (GRCm39) D431G probably damaging Het
Sgk3 T G 1: 9,951,804 (GRCm39) V176G probably damaging Het
Slc19a3 A G 1: 83,000,454 (GRCm39) S188P probably damaging Het
Sorbs1 A G 19: 40,338,392 (GRCm39) I336T probably damaging Het
Strip1 C T 3: 107,527,355 (GRCm39) probably null Het
Syt4 T C 18: 31,576,799 (GRCm39) E185G possibly damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tgfbr3l G T 8: 4,299,439 (GRCm39) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,879,129 (GRCm39) Y989H probably damaging Het
Tmem156 C T 5: 65,233,161 (GRCm39) V134I probably benign Het
Tnks A T 8: 35,320,457 (GRCm39) V738E probably benign Het
Trpm6 A T 19: 18,770,240 (GRCm39) I342F probably damaging Het
Vmn2r69 A T 7: 85,060,711 (GRCm39) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnk1 T C 6: 119,928,953 (GRCm39) T1292A probably damaging Het
Yes1 T A 5: 32,812,584 (GRCm39) C285S probably benign Het
Zbed6 T C 1: 133,586,472 (GRCm39) I288M probably damaging Het
Zbtb49 T C 5: 38,371,263 (GRCm39) N206S probably benign Het
Other mutations in Serpina10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CATCTAGTCTTCAGCTAAGGCGCTC -3'
(R):5'- GCCACACAAACGGTCTTTCATGTTC -3'

Sequencing Primer
(F):5'- TTCAGCTAAGGCGCTCAGAAG -3'
(R):5'- ACAAACGGTCTTTCATGTTCTTTATC -3'
Posted On 2013-06-12