Incidental Mutation 'IGL01940:Serpinb3a'
ID 180832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb3a
Ensembl Gene ENSMUSG00000044594
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A
Synonyms Sqn5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01940
Quality Score
Status
Chromosome 1
Chromosomal Location 106973317-106980033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106973915 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold G3X9V8
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: 9,517,661 (GRCm39) probably benign Het
Ahnak A T 19: 8,983,921 (GRCm39) D1735V probably benign Het
Alkbh3 G A 2: 93,811,940 (GRCm39) T231I probably damaging Het
Ap4e1 T C 2: 126,885,431 (GRCm39) V344A probably damaging Het
Brip1 T A 11: 85,955,792 (GRCm39) D907V probably benign Het
Clca3a1 A T 3: 144,452,737 (GRCm39) M582K probably benign Het
Csf2 G T 11: 54,140,351 (GRCm39) P29H probably damaging Het
Cyp2d26 C T 15: 82,676,758 (GRCm39) R196H probably benign Het
Dagla A G 19: 10,229,535 (GRCm39) V575A probably benign Het
Dimt1 T A 13: 107,085,206 (GRCm39) probably benign Het
Ei24 A T 9: 36,693,687 (GRCm39) F288L probably damaging Het
Fam107a T C 14: 8,298,766 (GRCm38) H120R probably benign Het
Fancl G T 11: 26,409,752 (GRCm39) V203F probably damaging Het
Fgd6 T A 10: 93,925,512 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,012 (GRCm39) Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ift122 A G 6: 115,864,332 (GRCm39) probably benign Het
Kcnk13 A G 12: 100,027,683 (GRCm39) S253G probably benign Het
Lcp1 A T 14: 75,453,805 (GRCm39) N469I probably benign Het
Lrrc24 T C 15: 76,600,257 (GRCm39) Y294C probably damaging Het
Odam C A 5: 88,035,192 (GRCm39) S52Y possibly damaging Het
Or14j7 C T 17: 38,235,177 (GRCm39) T240I probably damaging Het
Or4a71 T A 2: 89,358,154 (GRCm39) N200I probably damaging Het
Or51i2 A G 7: 103,689,129 (GRCm39) N42S probably damaging Het
Pkd1 G T 17: 24,798,720 (GRCm39) R2676L possibly damaging Het
Plec T C 15: 76,064,529 (GRCm39) D1915G probably damaging Het
Ptbp2 A G 3: 119,519,764 (GRCm39) V9A possibly damaging Het
Ptk2b A G 14: 66,396,062 (GRCm39) I802T probably benign Het
Rabgap1 G T 2: 37,377,079 (GRCm39) A304S probably damaging Het
Sema3f T C 9: 107,560,896 (GRCm39) probably benign Het
Skil T A 3: 31,165,793 (GRCm39) M370K probably benign Het
Slc25a1 T A 16: 17,744,304 (GRCm39) Y209F probably benign Het
Smim15 A G 13: 108,184,164 (GRCm39) K57E probably damaging Het
Taar3 T A 10: 23,825,855 (GRCm39) C134S probably damaging Het
Tns4 C T 11: 98,959,047 (GRCm39) S684N probably benign Het
Vmn2r58 A G 7: 41,487,071 (GRCm39) V608A probably benign Het
Zbtb26 A T 2: 37,325,987 (GRCm39) C350S possibly damaging Het
Other mutations in Serpinb3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Serpinb3a APN 1 106,978,789 (GRCm39) nonsense probably null
IGL02077:Serpinb3a APN 1 106,974,111 (GRCm39) missense probably damaging 0.99
IGL02136:Serpinb3a APN 1 106,974,015 (GRCm39) missense probably benign 0.15
IGL02214:Serpinb3a APN 1 106,976,218 (GRCm39) critical splice donor site probably null
IGL02239:Serpinb3a APN 1 106,979,418 (GRCm39) missense probably benign 0.05
IGL02508:Serpinb3a APN 1 106,973,802 (GRCm39) missense probably damaging 1.00
IGL02533:Serpinb3a APN 1 106,974,892 (GRCm39) missense probably benign 0.00
IGL02860:Serpinb3a APN 1 106,977,183 (GRCm39) splice site probably benign
IGL03013:Serpinb3a APN 1 106,973,813 (GRCm39) missense probably damaging 1.00
IGL03391:Serpinb3a APN 1 106,974,072 (GRCm39) missense possibly damaging 0.81
R0321:Serpinb3a UTSW 1 106,975,212 (GRCm39) nonsense probably null
R0416:Serpinb3a UTSW 1 106,977,116 (GRCm39) missense probably benign 0.29
R0494:Serpinb3a UTSW 1 106,975,212 (GRCm39) nonsense probably null
R0498:Serpinb3a UTSW 1 106,974,880 (GRCm39) missense probably damaging 1.00
R1223:Serpinb3a UTSW 1 106,975,282 (GRCm39) missense probably damaging 1.00
R1596:Serpinb3a UTSW 1 106,974,904 (GRCm39) missense probably benign 0.12
R1655:Serpinb3a UTSW 1 106,973,942 (GRCm39) missense probably damaging 1.00
R2156:Serpinb3a UTSW 1 106,975,202 (GRCm39) critical splice donor site probably null
R2296:Serpinb3a UTSW 1 106,975,291 (GRCm39) missense probably damaging 1.00
R4327:Serpinb3a UTSW 1 106,979,500 (GRCm39) start codon destroyed probably damaging 1.00
R4612:Serpinb3a UTSW 1 106,975,337 (GRCm39) missense probably damaging 0.99
R4830:Serpinb3a UTSW 1 106,976,316 (GRCm39) missense probably benign 0.00
R5016:Serpinb3a UTSW 1 106,974,060 (GRCm39) missense probably damaging 1.00
R5483:Serpinb3a UTSW 1 106,974,899 (GRCm39) missense probably benign 0.16
R5619:Serpinb3a UTSW 1 106,974,838 (GRCm39) missense probably damaging 1.00
R7227:Serpinb3a UTSW 1 106,979,359 (GRCm39) missense probably damaging 1.00
R8277:Serpinb3a UTSW 1 106,973,970 (GRCm39) missense probably damaging 1.00
R8526:Serpinb3a UTSW 1 106,976,504 (GRCm39) splice site probably null
R8992:Serpinb3a UTSW 1 106,974,907 (GRCm39) missense probably damaging 0.97
R9335:Serpinb3a UTSW 1 106,974,886 (GRCm39) missense probably damaging 1.00
R9799:Serpinb3a UTSW 1 106,974,892 (GRCm39) missense probably benign 0.00
Z1177:Serpinb3a UTSW 1 106,978,738 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07