Incidental Mutation 'IGL02860:Serpinb3a'
ID362135
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: 0.065) question?
Stock #IGL02860
Quality Score
Status
Chromosome1
Chromosomal Location107045587-107052303 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 107049453 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
Predicted Effect probably benign
Transcript: ENSMUST00000027567
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112717
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,191,862 M832L probably benign Het
Cars A T 7: 143,586,421 D99E probably damaging Het
Ccdc112 A G 18: 46,287,442 F414L probably benign Het
Chst15 C T 7: 132,269,102 V235I probably benign Het
Dysf G T 6: 84,190,898 probably null Het
Elavl2 T C 4: 91,260,953 D174G probably damaging Het
Gapdhs T A 7: 30,729,883 probably null Het
Gnb1l G A 16: 18,552,535 G259R probably damaging Het
Ighv9-2 T G 12: 114,109,237 I39L possibly damaging Het
Kntc1 T A 5: 123,769,873 N474K possibly damaging Het
Lrrc8c T C 5: 105,579,615 probably benign Het
Lyn C T 4: 3,745,594 A131V possibly damaging Het
Mindy2 T C 9: 70,656,544 E168G probably damaging Het
Morc2a T C 11: 3,661,821 probably benign Het
Naip6 T C 13: 100,300,476 Q513R possibly damaging Het
Nell1 A T 7: 50,848,485 I597F probably damaging Het
Nudt12 T A 17: 59,010,435 R72S probably benign Het
Pan2 C T 10: 128,310,735 R414* probably null Het
Rb1 T C 14: 73,206,012 R768G probably damaging Het
Rps6ka2 A G 17: 7,282,856 E440G possibly damaging Het
Stx8 C A 11: 67,984,565 T72K probably damaging Het
Tecrl A G 5: 83,354,997 F2L probably benign Het
Tmem263 C T 10: 85,114,552 T69I probably damaging Het
Ttc39b T C 4: 83,263,746 N49D probably benign Het
Ttn A G 2: 76,717,015 L32229P probably damaging Het
Zfp358 T C 8: 3,496,074 F219L 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
IGL02533:Serpinb3a APN 1 107047162 missense probably benign 0.00
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 On2015-12-18