Incidental Mutation 'IGL01113:Serpinb3a'
ID50290
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: 0.068) question?
Stock #IGL01113
Quality Score
Status
Chromosome1
Chromosomal Location107045587-107052303 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 107051059 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 57 (Q57*)
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
Predicted Effect probably null
Transcript: ENSMUST00000027567
AA Change: Q57*
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: Q57*

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112717
AA Change: Q57*
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: Q57*

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544L04Rik A G 7: 135,397,142 noncoding transcript Het
Adgrv1 A T 13: 81,489,028 F3431L probably benign Het
Adk A G 14: 21,092,393 N21S probably damaging Het
Cacna2d3 A G 14: 29,300,731 probably benign Het
Camk2d C A 3: 126,780,412 A156E probably damaging Het
Ccdc171 G T 4: 83,661,810 W598L probably damaging Het
Cep85 C T 4: 134,148,761 V445I possibly damaging Het
Cftr A G 6: 18,270,253 Y814C probably damaging Het
Dctn1 T C 6: 83,179,897 S9P probably benign Het
Dmxl1 A G 18: 49,912,751 K2409R probably benign Het
Dnaaf1 T A 8: 119,582,578 I135N probably damaging Het
Eif3d G A 15: 77,963,315 T241M probably damaging Het
Etv1 T C 12: 38,781,792 probably benign Het
Gdpd3 C A 7: 126,767,825 S182R probably benign Het
Gm12888 C A 4: 121,318,324 C87F probably damaging Het
Gm5346 T C 8: 43,626,152 H345R probably damaging Het
Gml C A 15: 74,813,727 M136I probably benign Het
Habp2 A G 19: 56,310,116 T137A probably benign Het
Igkv6-25 C T 6: 70,215,788 P60S possibly damaging Het
Mak A T 13: 41,042,143 W396R probably damaging Het
Mast4 C A 13: 102,774,236 C441F probably damaging Het
Medag T C 5: 149,429,907 I189T probably benign Het
Myh1 A G 11: 67,202,180 T71A probably benign Het
Nin G T 12: 70,031,779 L1678M probably damaging Het
Nol6 T C 4: 41,115,749 D1081G probably damaging Het
Olfr308 A T 7: 86,321,153 D266E probably benign Het
Olfr350 A T 2: 36,850,619 D191V probably damaging Het
Ppp1r10 T A 17: 35,929,559 N580K probably damaging Het
Rpgrip1l T C 8: 91,260,739 probably benign Het
Thumpd3 T C 6: 113,060,060 S307P probably benign Het
Upf1 A C 8: 70,338,284 D577E probably benign Het
Vmn2r99 T C 17: 19,394,256 V746A probably benign Het
Wscd2 T C 5: 113,570,739 V268A probably damaging Het
Other mutations in Serpinb3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-06-21