Incidental Mutation 'IGL00163:Serpina5'
ID 1055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina5
Ensembl Gene ENSMUSG00000041550
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 5
Synonyms PAI-3, Pci, antitrypsin, alpha-1 antiproteinase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00163
Quality Score
Status
Chromosome 12
Chromosomal Location 104067372-104072396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104071479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 362 (A362D)
Ref Sequence ENSEMBL: ENSMUSP00000021495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021495]
AlphaFold P70458
Predicted Effect probably damaging
Transcript: ENSMUST00000021495
AA Change: A362D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: A362D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 48 405 1.4e-160 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175615
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,786,310 (GRCm39) Q103* probably null Het
4933406P04Rik C A 10: 20,186,970 (GRCm39) probably benign Het
Adgrg6 T C 10: 14,343,194 (GRCm39) E251G probably damaging Het
Ago2 T C 15: 72,998,302 (GRCm39) H292R probably benign Het
Akr1c6 T C 13: 4,498,977 (GRCm39) probably benign Het
Arhgap24 T A 5: 103,008,265 (GRCm39) M62K possibly damaging Het
Bicd1 A G 6: 149,451,888 (GRCm39) H834R possibly damaging Het
Ccdc77 G T 6: 120,306,045 (GRCm39) probably benign Het
Cdadc1 G T 14: 59,818,818 (GRCm39) H337N probably damaging Het
Cep192 A G 18: 68,013,871 (GRCm39) T2424A possibly damaging Het
Cep78 T C 19: 15,946,504 (GRCm39) T443A probably benign Het
Chrna1 T A 2: 73,400,986 (GRCm39) E181D probably benign Het
Dmxl1 G A 18: 49,984,534 (GRCm39) D177N probably damaging Het
Eif3h T A 15: 51,650,195 (GRCm39) I330F probably damaging Het
Fam184b T C 5: 45,697,091 (GRCm39) E691G probably benign Het
Fastkd1 T A 2: 69,537,893 (GRCm39) S230C probably benign Het
Gipc2 T C 3: 151,843,215 (GRCm39) I141V probably damaging Het
Hsd17b2 A T 8: 118,485,410 (GRCm39) D291V probably damaging Het
Itpr2 G A 6: 146,292,334 (GRCm39) A420V possibly damaging Het
Jag1 C T 2: 136,927,952 (GRCm39) probably null Het
Minar1 A T 9: 89,473,150 (GRCm39) probably benign Het
Mmp1b T A 9: 7,387,946 (GRCm39) Y16F probably benign Het
Muc4 G T 16: 32,754,090 (GRCm38) R1322M probably benign Het
Myo9b T C 8: 71,801,379 (GRCm39) I1179T probably benign Het
Nos1ap A G 1: 170,342,175 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,174,199 (GRCm39) V702E probably damaging Het
Or13d1 G A 4: 52,971,058 (GRCm39) V146M possibly damaging Het
Or1j21 A G 2: 36,684,012 (GRCm39) I255V probably benign Het
Or2ag17 T A 7: 106,389,796 (GRCm39) R137S probably benign Het
Or2y10 A C 11: 49,454,747 (GRCm39) probably benign Het
Or4c31 A T 2: 88,291,696 (GRCm39) Y4F probably benign Het
Or4f7 A C 2: 111,644,126 (GRCm39) probably benign Het
Osmr A T 15: 6,873,926 (GRCm39) L157* probably null Het
Pdzph1 T C 17: 59,281,791 (GRCm39) T164A possibly damaging Het
Ptn T C 6: 36,720,424 (GRCm39) K43E probably benign Het
Rbm45 T C 2: 76,209,051 (GRCm39) V340A probably damaging Het
Rnf5 C T 17: 34,821,083 (GRCm39) G83E probably damaging Het
Scin G T 12: 40,126,971 (GRCm39) Q459K probably benign Het
Tex47 T A 5: 7,355,468 (GRCm39) Y216* probably null Het
Tll1 A T 8: 64,469,170 (GRCm39) H984Q probably benign Het
Tmem259 A G 10: 79,815,568 (GRCm39) V81A probably benign Het
Tns3 A T 11: 8,401,066 (GRCm39) S1077R probably benign Het
Trgv3 G A 13: 19,427,381 (GRCm39) S88N probably benign Het
Ttc17 A G 2: 94,153,428 (GRCm39) probably benign Het
Tubgcp2 T C 7: 139,610,935 (GRCm39) T149A possibly damaging Het
Ulk1 G A 5: 110,935,738 (GRCm39) A25V probably damaging Het
Vps13d T C 4: 144,895,110 (GRCm39) E378G probably damaging Het
Vsig10 A G 5: 117,476,479 (GRCm39) N311S probably benign Het
Zfp511 T C 7: 139,617,429 (GRCm39) Y144H possibly damaging Het
Other mutations in Serpina5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Serpina5 APN 12 104,070,003 (GRCm39) missense possibly damaging 0.60
IGL01526:Serpina5 APN 12 104,068,149 (GRCm39) missense probably damaging 1.00
IGL02159:Serpina5 APN 12 104,071,557 (GRCm39) missense possibly damaging 0.95
IGL02351:Serpina5 APN 12 104,068,384 (GRCm39) missense probably damaging 1.00
IGL02358:Serpina5 APN 12 104,068,384 (GRCm39) missense probably damaging 1.00
IGL02735:Serpina5 APN 12 104,070,116 (GRCm39) missense probably benign 0.21
IGL03087:Serpina5 APN 12 104,067,992 (GRCm39) missense probably benign 0.01
R0189:Serpina5 UTSW 12 104,069,589 (GRCm39) missense probably damaging 1.00
R0304:Serpina5 UTSW 12 104,069,459 (GRCm39) missense possibly damaging 0.76
R0492:Serpina5 UTSW 12 104,068,392 (GRCm39) missense probably damaging 1.00
R0511:Serpina5 UTSW 12 104,069,621 (GRCm39) missense probably benign 0.00
R0611:Serpina5 UTSW 12 104,070,046 (GRCm39) missense probably benign
R1016:Serpina5 UTSW 12 104,071,582 (GRCm39) missense probably damaging 0.97
R1649:Serpina5 UTSW 12 104,071,484 (GRCm39) missense possibly damaging 0.94
R1970:Serpina5 UTSW 12 104,070,116 (GRCm39) missense probably benign 0.02
R4429:Serpina5 UTSW 12 104,069,665 (GRCm39) missense probably benign 0.00
R4805:Serpina5 UTSW 12 104,068,460 (GRCm39) missense probably damaging 0.97
R5608:Serpina5 UTSW 12 104,070,003 (GRCm39) missense probably damaging 1.00
R6226:Serpina5 UTSW 12 104,068,037 (GRCm39) missense possibly damaging 0.72
R7097:Serpina5 UTSW 12 104,068,554 (GRCm39) critical splice donor site probably null
R7357:Serpina5 UTSW 12 104,069,639 (GRCm39) missense possibly damaging 0.85
R8208:Serpina5 UTSW 12 104,071,532 (GRCm39) missense probably benign 0.00
R9337:Serpina5 UTSW 12 104,071,542 (GRCm39) missense possibly damaging 0.92
R9383:Serpina5 UTSW 12 104,070,131 (GRCm39) missense probably damaging 1.00
R9526:Serpina5 UTSW 12 104,069,403 (GRCm39) missense probably damaging 1.00
Posted On 2011-07-12