Incidental Mutation 'IGL01940:Serpinb3a'
ID180832
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: 0.069) question?
Stock #IGL01940
Quality Score
Status
Chromosome1
Chromosomal Location107045587-107052303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107046185 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 332 (V332E)
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
Predicted Effect probably damaging
Transcript: ENSMUST00000027567
AA Change: V332E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: V332E

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112717
AA Change: V332E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: V332E

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,567,661 probably benign Het
Ahnak A T 19: 9,006,557 D1735V probably benign Het
Alkbh3 G A 2: 93,981,595 T231I probably damaging Het
Ap4e1 T C 2: 127,043,511 V344A probably damaging Het
Brip1 T A 11: 86,064,966 D907V probably benign Het
Clca3a1 A T 3: 144,746,976 M582K probably benign Het
Csf2 G T 11: 54,249,525 P29H probably damaging Het
Cyp2d26 C T 15: 82,792,557 R196H probably benign Het
Dagla A G 19: 10,252,171 V575A probably benign Het
Dimt1 T A 13: 106,948,698 probably benign Het
Ei24 A T 9: 36,782,391 F288L probably damaging Het
Fam107a T C 14: 8,298,766 H120R probably benign Het
Fancl G T 11: 26,459,752 V203F probably damaging Het
Fgd6 T A 10: 94,089,650 probably null Het
Flrt2 A G 12: 95,780,238 Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Ift122 A G 6: 115,887,371 probably benign Het
Kcnk13 A G 12: 100,061,424 S253G probably benign Het
Lcp1 A T 14: 75,216,365 N469I probably benign Het
Lrrc24 T C 15: 76,716,057 Y294C probably damaging Het
Odam C A 5: 87,887,333 S52Y possibly damaging Het
Olfr1243 T A 2: 89,527,810 N200I probably damaging Het
Olfr128 C T 17: 37,924,286 T240I probably damaging Het
Olfr641 A G 7: 104,039,922 N42S probably damaging Het
Pkd1 G T 17: 24,579,746 R2676L possibly damaging Het
Plec T C 15: 76,180,329 D1915G probably damaging Het
Ptbp2 A G 3: 119,726,115 V9A possibly damaging Het
Ptk2b A G 14: 66,158,613 I802T probably benign Het
Rabgap1 G T 2: 37,487,067 A304S probably damaging Het
Sema3f T C 9: 107,683,697 probably benign Het
Skil T A 3: 31,111,644 M370K probably benign Het
Slc25a1 T A 16: 17,926,440 Y209F probably benign Het
Smim15 A G 13: 108,047,630 K57E probably damaging Het
Taar3 T A 10: 23,949,957 C134S probably damaging Het
Tns4 C T 11: 99,068,221 S684N probably benign Het
Vmn2r58 A G 7: 41,837,647 V608A probably benign Het
Zbtb26 A T 2: 37,435,975 C350S possibly damaging Het
Other mutations in Serpinb3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Serpinb3a APN 1 107051059 nonsense probably null
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
IGL03013:Serpinb3a APN 1 107046083 missense probably damaging 1.00
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
R8277:Serpinb3a UTSW 1 107046240 missense probably damaging 1.00
R8526:Serpinb3a UTSW 1 107048774 splice site probably null
Z1177:Serpinb3a UTSW 1 107051008 critical splice donor site probably null
Posted On2014-05-07