Incidental Mutation 'R7133:Serpinb1a'
ID 552848
Institutional Source Beutler Lab
Gene Symbol Serpinb1a
Ensembl Gene ENSMUSG00000044734
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 1a
Synonyms EIA, 1190005M04Rik, MNEI, LEI, ELANH2, M/NEI, ovalbumin
MMRRC Submission 045218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R7133 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 33026075-33035168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33034308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 28 (I28F)
Ref Sequence ENSEMBL: ENSMUSP00000075690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076352] [ENSMUST00000091668]
AlphaFold Q9D154
Predicted Effect possibly damaging
Transcript: ENSMUST00000076352
AA Change: I28F

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: I28F

DomainStartEndE-ValueType
SERPIN 13 379 1.19e-190 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000091668
AA Change: I28F

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734
AA Change: I28F

DomainStartEndE-ValueType
SERPIN 13 348 1.5e-151 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,902,473 (GRCm39) K614N probably benign Het
2610008E11Rik T G 10: 78,902,474 (GRCm39) K614T probably benign Het
Ahsa1 T A 12: 87,317,116 (GRCm39) S120R probably benign Het
Anapc16 G A 10: 59,832,302 (GRCm39) T37I possibly damaging Het
Arid2 C A 15: 96,276,756 (GRCm39) P1606H probably damaging Het
Ash1l TATCTCCTTTTCCAAAAA TA 3: 88,890,764 (GRCm39) probably null Het
Asic1 T A 15: 99,569,968 (GRCm39) N96K probably damaging Het
Asph A T 4: 9,484,575 (GRCm39) D582E probably benign Het
Astn1 A G 1: 158,400,557 (GRCm39) D528G probably damaging Het
Atp9b A G 18: 80,952,871 (GRCm39) V164A Het
Cbx6 C T 15: 79,712,866 (GRCm39) G187D possibly damaging Het
Cct7 A G 6: 85,443,627 (GRCm39) T332A probably benign Het
Clca4a A T 3: 144,667,651 (GRCm39) L440* probably null Het
Crybg2 A T 4: 133,792,754 (GRCm39) I130F probably benign Het
Crybg3 T C 16: 59,357,167 (GRCm39) E798G probably damaging Het
Ctnnd2 A G 15: 30,480,995 (GRCm39) E81G possibly damaging Het
Cwc22 C T 2: 77,759,822 (GRCm39) R75H possibly damaging Het
Cym T G 3: 107,121,530 (GRCm39) D254A probably damaging Het
Dcaf11 T A 14: 55,806,383 (GRCm39) probably null Het
Dctn1 A T 6: 83,157,026 (GRCm39) probably null Het
Dennd5a C T 7: 109,495,449 (GRCm39) probably null Het
Dmpk T A 7: 18,821,232 (GRCm39) C217S probably damaging Het
Dnah1 C A 14: 31,008,033 (GRCm39) V2125L probably benign Het
Exoc4 G A 6: 33,415,408 (GRCm39) A427T probably benign Het
Farp2 G T 1: 93,548,956 (GRCm39) V1021F probably damaging Het
Flg2 T C 3: 93,127,069 (GRCm39) S1994P unknown Het
Fmnl1 T C 11: 103,072,610 (GRCm39) probably null Het
Frem2 T A 3: 53,479,760 (GRCm39) I1978F possibly damaging Het
Gan T A 8: 117,913,969 (GRCm39) C122* probably null Het
Gpr25 T A 1: 136,188,559 (GRCm39) Y18F probably damaging Het
Hoxa7 C T 6: 52,192,720 (GRCm39) E223K probably benign Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ibsp A T 5: 104,450,172 (GRCm39) K27* probably null Het
Ighv6-5 T A 12: 114,380,395 (GRCm39) T41S probably benign Het
Ighv9-4 T C 12: 114,263,757 (GRCm39) M59V probably benign Het
Il17rb T C 14: 29,718,828 (GRCm39) D418G probably damaging Het
Ints5 T A 19: 8,872,923 (GRCm39) V294E probably damaging Het
Irx6 G A 8: 93,405,041 (GRCm39) C303Y probably damaging Het
Itih3 T A 14: 30,639,655 (GRCm39) I389F probably damaging Het
Lama1 C T 17: 68,089,141 (GRCm39) T1604I Het
Lama3 C A 18: 12,672,843 (GRCm39) Q873K probably benign Het
Lhx1 T G 11: 84,410,746 (GRCm39) S284R probably benign Het
Lrba T A 3: 86,302,238 (GRCm39) probably null Het
Lrg1 C T 17: 56,427,592 (GRCm39) G127R possibly damaging Het
Macir G A 1: 97,573,645 (GRCm39) P140L probably benign Het
Mapre1 T A 2: 153,606,883 (GRCm39) L205H probably benign Het
Meltf A G 16: 31,711,617 (GRCm39) N581S probably damaging Het
Mgat5 A C 1: 127,292,926 (GRCm39) M149L probably benign Het
Myh1 A G 11: 67,093,412 (GRCm39) T168A probably benign Het
Naalad2 C T 9: 18,238,673 (GRCm39) V681I probably benign Het
Or51e2 A G 7: 102,391,524 (GRCm39) S229P probably damaging Het
Or52r1c T A 7: 102,735,205 (GRCm39) L155Q probably damaging Het
Pcnx2 T C 8: 126,528,243 (GRCm39) T1326A probably benign Het
Peg3 A T 7: 6,711,944 (GRCm39) C1093S probably damaging Het
Pidd1 T C 7: 141,019,813 (GRCm39) S650G probably benign Het
Pik3c2b T C 1: 133,017,972 (GRCm39) S945P possibly damaging Het
Plec T C 15: 76,060,227 (GRCm39) T3237A possibly damaging Het
Prpf3 A T 3: 95,741,052 (GRCm39) probably null Het
Prpf4b C A 13: 35,085,477 (GRCm39) H974Q probably benign Het
Ptpn3 T C 4: 57,225,863 (GRCm39) T451A probably benign Het
Ptprs A G 17: 56,724,429 (GRCm39) Y1577H probably damaging Het
Rgr C T 14: 36,770,882 (GRCm39) M1I probably null Het
Rxrg A T 1: 167,458,678 (GRCm39) N257I probably benign Het
Sbno2 T C 10: 79,922,146 (GRCm39) D9G probably damaging Het
Scd1 T C 19: 44,395,034 (GRCm39) K64E probably damaging Het
Sfmbt2 A T 2: 10,406,818 (GRCm39) E39V probably damaging Het
Slc29a1 A G 17: 45,900,897 (GRCm39) M89T possibly damaging Het
Slco4a1 T A 2: 180,113,856 (GRCm39) V431E possibly damaging Het
Smg1 C T 7: 117,752,131 (GRCm39) C2698Y unknown Het
Sptlc2 C T 12: 87,397,151 (GRCm39) D212N probably benign Het
St6galnac1 T C 11: 116,657,899 (GRCm39) T334A possibly damaging Het
Stim2 A T 5: 54,156,263 (GRCm39) D13V possibly damaging Het
Syne1 A G 10: 5,181,592 (GRCm39) W4248R probably damaging Het
Tanc1 T C 2: 59,627,953 (GRCm39) Y584H probably benign Het
Thoc6 C A 17: 23,892,634 (GRCm39) probably null Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Trip11 T A 12: 101,850,329 (GRCm39) Q1245L probably damaging Het
Tshz3 A G 7: 36,469,994 (GRCm39) D661G probably benign Het
Ttll8 C A 15: 88,799,630 (GRCm39) V604L probably damaging Het
Ubtfl1 A G 9: 18,320,931 (GRCm39) D153G probably damaging Het
Ufsp2 C A 8: 46,436,661 (GRCm39) N137K probably benign Het
Ugt2a3 A G 5: 87,473,393 (GRCm39) I508T possibly damaging Het
Uso1 G A 5: 92,306,324 (GRCm39) E94K probably benign Het
Usp54 A G 14: 20,611,310 (GRCm39) S1169P probably benign Het
Vmn1r235 C T 17: 21,482,292 (GRCm39) P206S probably benign Het
Vmn1r69 T C 7: 10,314,995 (GRCm39) probably benign Het
Zfp263 T A 16: 3,567,255 (GRCm39) C523* probably null Het
Zfp799 G T 17: 33,039,210 (GRCm39) T352K probably benign Het
Zfr T A 15: 12,180,724 (GRCm39) V951E probably damaging Het
Zfyve26 T C 12: 79,330,926 (GRCm39) D431G probably benign Het
Zswim9 C A 7: 12,993,664 (GRCm39) A831S probably damaging Het
Other mutations in Serpinb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Serpinb1a APN 13 33,029,398 (GRCm39) missense probably benign 0.03
IGL02470:Serpinb1a APN 13 33,034,376 (GRCm39) missense probably damaging 0.98
IGL03215:Serpinb1a APN 13 33,034,352 (GRCm39) missense probably damaging 0.99
R0047:Serpinb1a UTSW 13 33,034,259 (GRCm39) missense probably damaging 1.00
R0047:Serpinb1a UTSW 13 33,034,259 (GRCm39) missense probably damaging 1.00
R0121:Serpinb1a UTSW 13 33,032,754 (GRCm39) splice site probably benign
R0335:Serpinb1a UTSW 13 33,032,639 (GRCm39) missense probably damaging 1.00
R0387:Serpinb1a UTSW 13 33,032,721 (GRCm39) missense probably benign 0.03
R0751:Serpinb1a UTSW 13 33,027,199 (GRCm39) missense probably benign
R1184:Serpinb1a UTSW 13 33,027,199 (GRCm39) missense probably benign
R2096:Serpinb1a UTSW 13 33,031,437 (GRCm39) missense probably damaging 1.00
R2165:Serpinb1a UTSW 13 33,034,397 (GRCm39) splice site probably benign
R3432:Serpinb1a UTSW 13 33,026,842 (GRCm39) missense possibly damaging 0.47
R5247:Serpinb1a UTSW 13 33,034,389 (GRCm39) start codon destroyed probably damaging 1.00
R5669:Serpinb1a UTSW 13 33,029,299 (GRCm39) missense probably damaging 1.00
R6274:Serpinb1a UTSW 13 33,026,849 (GRCm39) missense probably damaging 1.00
R7358:Serpinb1a UTSW 13 33,026,981 (GRCm39) missense probably damaging 1.00
R7944:Serpinb1a UTSW 13 33,034,239 (GRCm39) missense probably benign 0.34
R7994:Serpinb1a UTSW 13 33,027,033 (GRCm39) missense probably damaging 1.00
R8213:Serpinb1a UTSW 13 33,026,982 (GRCm39) missense probably damaging 1.00
R8272:Serpinb1a UTSW 13 33,029,720 (GRCm39) missense probably damaging 1.00
R9023:Serpinb1a UTSW 13 33,029,763 (GRCm39) missense probably damaging 0.99
R9287:Serpinb1a UTSW 13 33,026,946 (GRCm39) missense probably damaging 1.00
R9423:Serpinb1a UTSW 13 33,026,910 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TGTGGCTCTCTGAAAGTCTG -3'
(R):5'- ACTGAAGTAGTATGCTTGCCCTC -3'

Sequencing Primer
(F):5'- GGCTCTCTGAAAGTCTGACTGTAC -3'
(R):5'- ATTCCAAACTGTAGGGTCCTAGG -3'
Posted On 2019-05-15