Incidental Mutation 'IGL01138:Serpina5'
ID52495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina5
Ensembl Gene ENSMUSG00000041550
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 5
Synonymsalpha-1 antiproteinase, Pci, PAI-3, antitrypsin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01138
Quality Score
Status
Chromosome12
Chromosomal Location104101113-104106137 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104103744 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 300 (Y300C)
Ref Sequence ENSEMBL: ENSMUSP00000021495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021495]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021495
AA Change: Y300C

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: Y300C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 48 405 1.4e-160 SMART
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,854,859 V27A probably benign Het
Abcg5 T A 17: 84,664,847 R499S possibly damaging Het
Adamts13 T C 2: 26,983,042 S341P probably damaging Het
Adgrg1 T A 8: 95,003,457 C96S probably damaging Het
Arhgap44 A G 11: 65,041,449 F215S probably damaging Het
Arhgef25 A G 10: 127,184,170 F400L probably damaging Het
Baz1a T C 12: 54,930,325 E384G probably damaging Het
Col12a1 T C 9: 79,678,053 D1314G probably damaging Het
Col6a3 T A 1: 90,807,510 I806F probably damaging Het
Coro1c G A 5: 113,852,161 probably benign Het
CT030661.1 G A 17: 22,202,668 probably benign Het
Dnmt3b A T 2: 153,661,441 D4V probably benign Het
Ermn G T 2: 58,052,695 L8M possibly damaging Het
F13b T A 1: 139,517,212 N533K probably damaging Het
Fam171a1 T C 2: 3,202,620 V93A possibly damaging Het
Fam84b T A 15: 60,823,118 I260F probably damaging Het
Gpr107 T A 2: 31,172,016 L152Q probably benign Het
Guca1a C A 17: 47,400,384 E12D probably damaging Het
Igtp A G 11: 58,206,144 N47S possibly damaging Het
Lrrc8e A G 8: 4,234,084 N103S probably damaging Het
Lsmem1 A G 12: 40,180,699 L68P probably damaging Het
Maml3 A G 3: 51,690,558 S902P possibly damaging Het
Mkln1 A T 6: 31,432,990 N188Y probably damaging Het
Mlxip C T 5: 123,450,156 R771W probably damaging Het
Myf6 T C 10: 107,494,398 R103G probably damaging Het
Ncam2 T A 16: 81,517,579 I481K probably damaging Het
Nrap T A 19: 56,355,538 S645C probably damaging Het
Nup205 G T 6: 35,208,084 E813* probably null Het
Olfr157 A G 4: 43,835,617 L291P probably damaging Het
Plekhg5 C T 4: 152,106,978 R410W probably damaging Het
Pnmal2 C A 7: 16,945,163 T24K unknown Het
Polq A T 16: 37,045,869 Y476F possibly damaging Het
Prkd2 T C 7: 16,848,811 S200P probably damaging Het
Rif1 C A 2: 52,111,522 L1663I probably damaging Het
Shroom4 T C X: 6,585,203 S806P probably damaging Het
Sirpa T C 2: 129,630,165 V290A probably damaging Het
Slc25a47 C T 12: 108,856,022 R246C probably damaging Het
Slc9a6 A G X: 56,623,431 D199G probably damaging Het
Smarca5 T A 8: 80,701,076 K1048M possibly damaging Het
Sos2 C T 12: 69,616,849 probably benign Het
Trpm5 T A 7: 143,074,569 M990L probably benign Het
Vmn2r99 A T 17: 19,382,623 T547S probably damaging Het
Vps13b T C 15: 35,446,770 probably benign Het
Other mutations in Serpina5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Serpina5 APN 12 104105220 missense probably damaging 1.00
IGL01526:Serpina5 APN 12 104101890 missense probably damaging 1.00
IGL02159:Serpina5 APN 12 104105298 missense possibly damaging 0.95
IGL02351:Serpina5 APN 12 104102125 missense probably damaging 1.00
IGL02358:Serpina5 APN 12 104102125 missense probably damaging 1.00
IGL02735:Serpina5 APN 12 104103857 missense probably benign 0.21
IGL03087:Serpina5 APN 12 104101733 missense probably benign 0.01
R0189:Serpina5 UTSW 12 104103330 missense probably damaging 1.00
R0304:Serpina5 UTSW 12 104103200 missense possibly damaging 0.76
R0492:Serpina5 UTSW 12 104102133 missense probably damaging 1.00
R0511:Serpina5 UTSW 12 104103362 missense probably benign 0.00
R0611:Serpina5 UTSW 12 104103787 missense probably benign
R1016:Serpina5 UTSW 12 104105323 missense probably damaging 0.97
R1649:Serpina5 UTSW 12 104105225 missense possibly damaging 0.94
R1970:Serpina5 UTSW 12 104103857 missense probably benign 0.02
R4429:Serpina5 UTSW 12 104103406 missense probably benign 0.00
R4805:Serpina5 UTSW 12 104102201 missense probably damaging 0.97
R5608:Serpina5 UTSW 12 104103744 missense probably damaging 1.00
R6226:Serpina5 UTSW 12 104101778 missense possibly damaging 0.72
R7097:Serpina5 UTSW 12 104102295 critical splice donor site probably null
R7357:Serpina5 UTSW 12 104103380 missense possibly damaging 0.85
R8208:Serpina5 UTSW 12 104105273 missense probably benign 0.00
Posted On2013-06-21