Incidental Mutation 'IGL03013:Serpinb3a'
ID407842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb3a
Ensembl Gene ENSMUSG00000044594
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A
SynonymsSqn5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03013
Quality Score
Status
Chromosome1
Chromosomal Location107045587-107052303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107046083 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 366 (F366S)
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
Predicted Effect probably damaging
Transcript: ENSMUST00000027567
AA Change: F366S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: F366S

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112717
AA Change: F366S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: F366S

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 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 serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to allergen-induced airway hyperresponsiveness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
B3galt6 G A 4: 155,991,758 Q287* probably null Het
C2 A G 17: 34,872,459 V353A probably damaging Het
Cntnap2 A T 6: 47,095,549 Y1017F possibly damaging Het
Copz1 T A 15: 103,296,568 M118K probably benign Het
Dnm1 T C 2: 32,336,284 N298D probably benign Het
Exog T C 9: 119,462,613 S295P possibly damaging Het
Ext2 A T 2: 93,707,226 probably benign Het
Fam71e2 A G 7: 4,758,633 L360S probably benign Het
Gm16427 A T 5: 93,482,532 S394T probably damaging Het
Gpatch8 T C 11: 102,508,197 I70V unknown Het
Krt5 T A 15: 101,711,668 I205L probably benign Het
Leng9 A G 7: 4,148,738 V313A probably damaging Het
Macrod2 A G 2: 141,515,227 I148V probably benign Het
Mapk14 G T 17: 28,728,349 probably benign Het
Mfsd4b3 A T 10: 39,947,895 M123K probably benign Het
Mmp8 A G 9: 7,561,689 D205G probably benign Het
Muc5b A T 7: 141,863,928 H3537L possibly damaging Het
Nde1 C T 16: 14,191,747 P324L probably benign Het
Nlrp9b A T 7: 20,048,825 H888L probably damaging Het
Npy2r A G 3: 82,540,512 F319L probably damaging Het
Nup210 A G 6: 91,053,379 V156A probably benign Het
Nxph2 T C 2: 23,399,933 I99T probably benign Het
Parpbp A G 10: 88,139,978 I91T probably damaging Het
Pld2 A G 11: 70,541,177 Y75C probably damaging Het
Pramef8 A G 4: 143,417,467 T128A possibly damaging Het
Prkcb C A 7: 122,627,682 D630E probably damaging Het
Prl3c1 T C 13: 27,199,366 V5A probably benign Het
Sdcbp2 A G 2: 151,587,335 T192A probably benign Het
Sema6a C T 18: 47,248,394 A1046T probably benign Het
Serpinb9d T A 13: 33,196,538 W136R probably damaging Het
Smc2 G T 4: 52,442,280 V66F probably damaging Het
Speg A G 1: 75,431,279 D3206G probably damaging Het
Syne2 C T 12: 75,929,337 A1187V probably benign Het
Trove2 A G 1: 143,770,708 S100P probably damaging Het
Unc5cl G A 17: 48,465,021 M442I possibly damaging Het
Other mutations in Serpinb3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Serpinb3a APN 1 107051059 nonsense probably null
IGL01940:Serpinb3a APN 1 107046185 missense probably damaging 1.00
IGL02077:Serpinb3a APN 1 107046381 missense probably damaging 0.99
IGL02136:Serpinb3a APN 1 107046285 missense probably benign 0.15
IGL02214:Serpinb3a APN 1 107048488 critical splice donor site probably null
IGL02239:Serpinb3a APN 1 107051688 missense probably benign 0.05
IGL02508:Serpinb3a APN 1 107046072 missense probably damaging 1.00
IGL02533:Serpinb3a APN 1 107047162 missense probably benign 0.00
IGL02860:Serpinb3a APN 1 107049453 splice site probably benign
IGL03391:Serpinb3a APN 1 107046342 missense possibly damaging 0.81
R0321:Serpinb3a UTSW 1 107047482 nonsense probably null
R0416:Serpinb3a UTSW 1 107049386 missense probably benign 0.29
R0494:Serpinb3a UTSW 1 107047482 nonsense probably null
R0498:Serpinb3a UTSW 1 107047150 missense probably damaging 1.00
R1223:Serpinb3a UTSW 1 107047552 missense probably damaging 1.00
R1596:Serpinb3a UTSW 1 107047174 missense probably benign 0.12
R1655:Serpinb3a UTSW 1 107046212 missense probably damaging 1.00
R2156:Serpinb3a UTSW 1 107047472 critical splice donor site probably null
R2296:Serpinb3a UTSW 1 107047561 missense probably damaging 1.00
R4327:Serpinb3a UTSW 1 107051770 start codon destroyed probably damaging 1.00
R4612:Serpinb3a UTSW 1 107047607 missense probably damaging 0.99
R4830:Serpinb3a UTSW 1 107048586 missense probably benign 0.00
R5016:Serpinb3a UTSW 1 107046330 missense probably damaging 1.00
R5483:Serpinb3a UTSW 1 107047169 missense probably benign 0.16
R5619:Serpinb3a UTSW 1 107047108 missense probably damaging 1.00
R7227:Serpinb3a UTSW 1 107051629 missense probably damaging 1.00
Z1177:Serpinb3a UTSW 1 107051008 critical splice donor site probably null
Posted On2016-08-02