Incidental Mutation 'IGL02533:Serpinb3a'
ID297387
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: 0.074) question?
Stock #IGL02533
Quality Score
Status
Chromosome1
Chromosomal Location107045587-107052303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 107047162 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 214 (I214L)
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
Predicted Effect probably benign
Transcript: ENSMUST00000027567
AA Change: I214L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: I214L

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112717
AA Change: I214L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: I214L

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
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Bach2 T C 4: 32,562,451 V306A probably benign Het
BC080695 A G 4: 143,571,002 probably benign Het
Cnga4 T C 7: 105,407,961 Y424H probably damaging Het
Cops9 T C 1: 92,639,716 E79G possibly damaging Het
Crebbp T C 16: 4,107,432 N769D probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd4b A T 3: 90,272,310 H636L probably benign Het
Dpysl3 T C 18: 43,325,794 T632A probably benign Het
Gabbr1 C T 17: 37,072,147 R857C probably damaging Het
Gbp10 A T 5: 105,220,035 V424D probably damaging Het
Gnptg T C 17: 25,235,455 E146G possibly damaging Het
Has2 A T 15: 56,681,695 H170Q probably benign Het
Il22ra1 G A 4: 135,744,723 G190D possibly damaging Het
Lhcgr T C 17: 88,742,410 T563A probably benign Het
Mgat4b T A 11: 50,233,552 F413Y probably damaging Het
Mms22l T A 4: 24,581,099 probably benign Het
Muc19 C T 15: 91,898,047 noncoding transcript Het
Ncoa7 A C 10: 30,722,785 D47E probably damaging Het
Ncoa7 A T 10: 30,690,899 S545R possibly damaging Het
Nme1 A G 11: 93,959,431 Y142H possibly damaging Het
Olfr1104 T A 2: 87,022,353 S64C probably damaging Het
Olfr1404 A T 1: 173,216,061 M137L probably damaging Het
Olfr193 T A 16: 59,109,684 T309S probably benign Het
Per2 A G 1: 91,431,002 I587T possibly damaging Het
Pias3 A G 3: 96,699,616 D65G possibly damaging Het
Prkacb T C 3: 146,732,696 I304M possibly damaging Het
Ripor2 G T 13: 24,701,395 E538* probably null Het
Sart1 G A 19: 5,383,721 R363* probably null Het
Spon2 C A 5: 33,214,598 C288F probably damaging Het
Tmprss11a G A 5: 86,414,527 R320C probably damaging Het
Trpm5 T A 7: 143,089,545 I22F probably benign Het
Ube3a T C 7: 59,304,832 F818L probably damaging Het
Vmn1r120 T G 7: 21,053,138 Q216P probably damaging Het
Vmn2r4 A C 3: 64,398,419 Y527* probably null Het
Zfp618 A T 4: 63,089,405 Y125F probably 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
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
Z1177:Serpinb3a UTSW 1 107051008 critical splice donor site probably null
Posted On2015-04-16