Incidental Mutation 'R4227:Serpina10'
ID 320101
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 041047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4227 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 103582934-103597681 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103594674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 182 (Y182H)
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: Y182H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: Y182H

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: Y182H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: Y182H

DomainStartEndE-ValueType
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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (56/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,115,120 (GRCm39) T609A probably damaging Het
Agbl2 T G 2: 90,631,797 (GRCm39) L385R probably damaging Het
Arfgef2 A T 2: 166,709,244 (GRCm39) D1107V probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
B9d1 C G 11: 61,403,483 (GRCm39) R160G probably damaging Het
Birc6 T C 17: 74,926,835 (GRCm39) probably null Het
Capn11 A G 17: 45,953,392 (GRCm39) probably null Het
Ceacam12 G T 7: 17,805,678 (GRCm39) M288I probably benign Het
Cfhr3 T A 1: 139,536,046 (GRCm39) noncoding transcript Het
Copa A G 1: 171,945,682 (GRCm39) probably benign Het
Cypt4 A G 9: 24,536,788 (GRCm39) M93V probably benign Het
Fat3 G A 9: 16,288,989 (GRCm39) T178I probably damaging Het
Gm15931 A G 7: 4,277,793 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,654 (GRCm39) noncoding transcript Het
Gpsm1 T C 2: 26,229,638 (GRCm39) probably benign Het
Grhl1 A G 12: 24,661,850 (GRCm39) T510A probably benign Het
Kcnn3 A C 3: 89,428,482 (GRCm39) H236P possibly damaging Het
Kif21b T A 1: 136,081,831 (GRCm39) probably null Het
Lcn3 G T 2: 25,656,123 (GRCm39) M59I probably benign Het
Mrps27 C G 13: 99,547,848 (GRCm39) P253A probably damaging Het
Mug2 A T 6: 122,017,691 (GRCm39) D476V probably benign Het
Naca A T 10: 127,877,530 (GRCm39) probably benign Het
Naip5 A G 13: 100,349,276 (GRCm39) S1351P probably damaging Het
Odf2 A G 2: 29,791,296 (GRCm39) probably benign Het
Or2a56 A G 6: 42,932,648 (GRCm39) Y72C possibly damaging Het
Or4g17 A G 2: 111,209,410 (GRCm39) K22E probably benign Het
Or52ab7 A T 7: 102,978,026 (GRCm39) H111L probably damaging Het
Or5w18 T A 2: 87,633,219 (GRCm39) I162N probably damaging Het
P3h2 G T 16: 25,924,203 (GRCm39) D77E probably benign Het
Pcbp2 A G 15: 102,387,066 (GRCm39) M87V probably benign Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhh2 A G 17: 84,874,223 (GRCm39) T503A probably benign Het
Pnpla3 C A 15: 84,063,391 (GRCm39) N256K probably benign Het
Polh A G 17: 46,483,520 (GRCm39) S582P probably benign Het
Ptprb T C 10: 116,138,130 (GRCm39) Y345H possibly damaging Het
Rasl11b T A 5: 74,358,852 (GRCm39) I119N probably damaging Het
Rnaseh2a G A 8: 85,686,702 (GRCm39) T149I possibly damaging Het
Serpina1d A G 12: 103,733,740 (GRCm39) V188A probably benign Het
Setd1a C A 7: 127,395,819 (GRCm39) probably benign Het
Slc17a8 T C 10: 89,434,575 (GRCm39) N184S probably damaging Het
Spen C T 4: 141,249,458 (GRCm39) S110N unknown Het
Tas1r1 T C 4: 152,112,729 (GRCm39) I775V probably damaging Het
Tktl2 A G 8: 66,966,351 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss6 C T 15: 78,330,899 (GRCm39) V43M probably damaging Het
Try5 A G 6: 41,290,401 (GRCm39) Y28H possibly damaging Het
Urad A T 5: 147,252,100 (GRCm39) F117L probably damaging Het
Vegfc A G 8: 54,612,445 (GRCm39) Y156C probably damaging Het
Vmn2r45 A T 7: 8,486,277 (GRCm39) V337E probably damaging Het
Vmn2r6 A T 3: 64,445,369 (GRCm39) F696L probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp131 T C 13: 120,228,282 (GRCm39) D455G probably damaging 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
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'- TCTGGGGCAACAGGAGATTC -3'
(R):5'- ACGACGGCAATGTGATCTTC -3'

Sequencing Primer
(F):5'- GCAACAGGAGATTCCAAATACCTTTG -3'
(R):5'- GCCTGTCTGTGGCCATG -3'
Posted On 2015-06-12