Incidental Mutation 'Y4337:Serpina10'
ID 197507
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # Y4337 ()
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103582934-103597681 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103590735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 337 (M337I)
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: M337I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: M337I

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 benign
Transcript: ENSMUST00000121625
AA Change: M283I

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: M283I

DomainStartEndE-ValueType
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: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 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: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Rcsd1 C T 1: 165,483,253 (GRCm39) G276D possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S 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
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
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
Predicted Primers
Posted On 2014-05-23