Incidental Mutation 'R5247:Serpinb1a'
Institutional Source Beutler Lab
Gene Symbol Serpinb1a
Ensembl Gene ENSMUSG00000044734
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 1a
SynonymsMNEI, LEI, 1190005M04Rik, EIA, ovalbumin, M/NEI, ELANH2
MMRRC Submission 042818-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #R5247 (G1)
Quality Score225
Status Not validated
Chromosomal Location32842092-32851185 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 32850406 bp
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000089257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076352] [ENSMUST00000091668]
Predicted Effect probably damaging
Transcript: ENSMUST00000076352
AA Change: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: M1L

SERPIN 13 379 1.19e-190 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091668
AA Change: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734
AA Change: M1L

SERPIN 13 348 1.5e-151 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223016
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A T 1: 72,680,184 V502E probably benign Het
Atad2 A T 15: 58,104,478 L585* probably null Het
Atp6v0a2 T C 5: 124,713,177 S475P probably damaging Het
BC067074 A T 13: 113,319,459 I680F probably damaging Het
Cacng1 T C 11: 107,716,279 H38R probably benign Het
Celsr2 A G 3: 108,397,630 V2168A probably benign Het
Cnot4 C T 6: 35,051,416 V422I probably damaging Het
Col1a1 T C 11: 94,947,187 probably null Het
Ctcfl A T 2: 173,113,609 C287S probably damaging Het
Eps8l1 T A 7: 4,470,402 D133E probably damaging Het
Fam161b A G 12: 84,357,750 L52P probably damaging Het
Fam98c T C 7: 29,155,701 E99G possibly damaging Het
Fmn2 A T 1: 174,821,228 I1574L probably benign Het
Gabrb3 T A 7: 57,590,591 L8Q possibly damaging Het
Gm21964 T C 8: 110,110,577 F299S probably damaging Het
Gm8251 A C 1: 44,057,006 L1644* probably null Het
Hck A T 2: 153,134,695 K250* probably null Het
Herc1 A G 9: 66,434,551 E1874G probably benign Het
Igf2 G T 7: 142,653,931 A143D possibly damaging Het
Isg20l2 A G 3: 87,931,613 N44D possibly damaging Het
Kdm7a T A 6: 39,144,456 Q855L probably benign Het
Kif15 T C 9: 122,986,442 S434P possibly damaging Het
Klrc3 A T 6: 129,641,462 N119K probably damaging Het
L3mbtl3 T C 10: 26,327,808 M375V unknown Het
Lpcat4 A G 2: 112,242,515 H173R possibly damaging Het
Mapk13 A T 17: 28,777,751 Q264L probably benign Het
Mrps18c C G 5: 100,798,793 C8W probably damaging Het
Myt1l G A 12: 29,832,332 G509R unknown Het
Nlrp4b T A 7: 10,714,218 I116N probably benign Het
Olfr1489 T A 19: 13,633,414 F101Y probably damaging Het
Olfr239 A G 17: 33,199,530 T161A probably benign Het
Prdm1 A T 10: 44,440,102 H679Q probably damaging Het
Prickle2 T A 6: 92,375,969 S839C probably damaging Het
Rps19 T A 7: 24,885,453 S36T probably damaging Het
Slc16a7 A T 10: 125,231,314 M152K probably damaging Het
Srpk3 C T X: 73,774,949 R82* probably null Het
Stx18 A T 5: 38,106,633 Y141F probably damaging Het
Tgfb2 A T 1: 186,649,914 probably null Het
Tmem151b A T 17: 45,545,645 Y290N probably damaging Het
Ttn G A 2: 76,728,422 T29705M probably damaging Het
Tymp GC GCC 15: 89,374,364 probably null Het
Usp19 T G 9: 108,496,065 probably null Het
Other mutations in Serpinb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Serpinb1a APN 13 32845415 missense probably benign 0.03
IGL02470:Serpinb1a APN 13 32850393 missense probably damaging 0.98
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
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
Predicted Primers
Posted On2016-07-06