Incidental Mutation 'IGL02470:Serpinb1a'
ID 294692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb1a
Ensembl Gene ENSMUSG00000044734
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 1a
Synonyms MNEI, LEI, 1190005M04Rik, EIA, ovalbumin, M/NEI, ELANH2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02470
Quality Score
Status
Chromosome 13
Chromosomal Location 32842092-32851185 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32850393 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 5 (S5N)
Ref Sequence ENSEMBL: ENSMUSP00000089257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076352] [ENSMUST00000091668]
AlphaFold Q9D154
Predicted Effect probably damaging
Transcript: ENSMUST00000076352
AA Change: S5N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: S5N

DomainStartEndE-ValueType
SERPIN 13 379 1.19e-190 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091668
AA Change: S5N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734
AA Change: S5N

DomainStartEndE-ValueType
SERPIN 13 348 1.5e-151 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223016
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 proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
Arl4a T C 12: 40,036,748 probably benign Het
BB014433 A T 8: 15,042,803 F17I unknown Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Ccdc148 A T 2: 59,001,899 S235T probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Gnb1 T A 4: 155,527,513 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mcmbp T C 7: 128,704,621 I424M possibly damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Slc15a3 A G 19: 10,853,170 N295S probably benign Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Serpinb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Serpinb1a APN 13 32845415 missense probably benign 0.03
IGL03215:Serpinb1a APN 13 32850369 missense probably damaging 0.99
R0047:Serpinb1a UTSW 13 32850276 missense probably damaging 1.00
R0047:Serpinb1a UTSW 13 32850276 missense probably damaging 1.00
R0121:Serpinb1a UTSW 13 32848771 splice site probably benign
R0335:Serpinb1a UTSW 13 32848656 missense probably damaging 1.00
R0387:Serpinb1a UTSW 13 32848738 missense probably benign 0.03
R0751:Serpinb1a UTSW 13 32843216 missense probably benign
R1184:Serpinb1a UTSW 13 32843216 missense probably benign
R2096:Serpinb1a UTSW 13 32847454 missense probably damaging 1.00
R2165:Serpinb1a UTSW 13 32850414 splice site probably benign
R3432:Serpinb1a UTSW 13 32842859 missense possibly damaging 0.47
R5247:Serpinb1a UTSW 13 32850406 start codon destroyed probably damaging 1.00
R5669:Serpinb1a UTSW 13 32845316 missense probably damaging 1.00
R6274:Serpinb1a UTSW 13 32842866 missense probably damaging 1.00
R7133:Serpinb1a UTSW 13 32850325 missense possibly damaging 0.69
R7358:Serpinb1a UTSW 13 32842998 missense probably damaging 1.00
R7944:Serpinb1a UTSW 13 32850256 missense probably benign 0.34
R7994:Serpinb1a UTSW 13 32843050 missense probably damaging 1.00
R8213:Serpinb1a UTSW 13 32842999 missense probably damaging 1.00
R8272:Serpinb1a UTSW 13 32845737 missense probably damaging 1.00
R9023:Serpinb1a UTSW 13 32845780 missense probably damaging 0.99
R9287:Serpinb1a UTSW 13 32842963 missense probably damaging 1.00
R9423:Serpinb1a UTSW 13 32842927 missense probably benign 0.44
Posted On 2015-04-16