Incidental Mutation 'R2156:Serpinb3a'
ID 234779
Institutional Source Beutler Lab
Gene Symbol Serpinb3a
Ensembl Gene ENSMUSG00000044594
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A
Synonyms Sqn5
MMRRC Submission 040159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2156 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 106973317-106980033 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 106975202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
AlphaFold G3X9V8
Predicted Effect probably null
Transcript: ENSMUST00000027567
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594

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

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,313,134 (GRCm39) probably null Het
Acaa2 T C 18: 74,926,476 (GRCm39) probably null Het
Adam7 T C 14: 68,748,792 (GRCm39) Q485R probably benign Het
Adcy4 T G 14: 56,006,627 (GRCm39) T1069P probably benign Het
Arsj T C 3: 126,232,337 (GRCm39) L361P probably damaging Het
Birc2 A C 9: 7,826,939 (GRCm39) L349R probably damaging Het
C1qa T C 4: 136,623,727 (GRCm39) Y159C probably damaging Het
Cdh13 A G 8: 119,963,703 (GRCm39) K428E probably damaging Het
Cenpe T C 3: 134,953,235 (GRCm39) M1563T probably benign Het
Col10a1 T C 10: 34,271,696 (GRCm39) V556A probably benign Het
Creg2 G A 1: 39,662,338 (GRCm39) L265F probably damaging Het
Cyp1a2 T A 9: 57,589,433 (GRCm39) D127V probably damaging Het
Cyp3a44 A T 5: 145,740,480 (GRCm39) Y53* probably null Het
Cyth1 C T 11: 118,073,634 (GRCm39) R233Q probably damaging Het
Dnmbp G A 19: 43,890,346 (GRCm39) H474Y possibly damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Ercc2 G A 7: 19,120,717 (GRCm39) R206H possibly damaging Het
Evx2 T A 2: 74,486,360 (GRCm39) H343L probably damaging Het
Fcrl2 T A 3: 87,164,648 (GRCm39) I293F probably benign Het
Gcnt4 A G 13: 97,082,974 (GRCm39) E90G probably damaging Het
Gid8 T G 2: 180,358,751 (GRCm39) C139G probably benign Het
Gm11938 C A 11: 99,493,933 (GRCm39) C54F probably damaging Het
Gm3336 G A 8: 71,174,509 (GRCm39) V158I probably benign Het
Gucy1b1 T C 3: 81,968,327 (GRCm39) N60D probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hsp90ab1 A G 17: 45,880,629 (GRCm39) F361L possibly damaging Het
Igf2bp3 A T 6: 49,085,858 (GRCm39) probably null Het
Inpp4b T A 8: 82,775,118 (GRCm39) I772N probably damaging Het
Iqca1 A G 1: 90,017,238 (GRCm39) L390P possibly damaging Het
Itgb2 C T 10: 77,396,082 (GRCm39) R586W probably benign Het
Itih1 A G 14: 30,655,432 (GRCm39) S588P possibly damaging Het
Iyd T A 10: 3,497,166 (GRCm39) probably null Het
Kl A G 5: 150,912,425 (GRCm39) K725E probably benign Het
Layn T A 9: 50,968,697 (GRCm39) M349L probably benign Het
Map3k5 T C 10: 19,900,683 (GRCm39) Y286H probably damaging Het
Med4 C T 14: 73,755,472 (GRCm39) probably benign Het
Mfn1 T A 3: 32,588,400 (GRCm39) N42K possibly damaging Het
Mindy2 T C 9: 70,563,874 (GRCm39) D152G probably benign Het
Mrc2 A G 11: 105,238,682 (GRCm39) probably null Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Msh6 G A 17: 88,293,568 (GRCm39) W774* probably null Het
Mtch1 A T 17: 29,561,841 (GRCm39) V121E probably damaging Het
Mtg2 G T 2: 179,725,923 (GRCm39) E178* probably null Het
Nbas A T 12: 13,491,510 (GRCm39) N1461Y probably damaging Het
Ndfip2 A G 14: 105,525,204 (GRCm39) T65A probably benign Het
Ninl G T 2: 150,786,503 (GRCm39) Q1146K probably damaging Het
Notch1 T C 2: 26,350,873 (GRCm39) D2089G possibly damaging Het
Notch3 C T 17: 32,366,818 (GRCm39) V906M probably damaging Het
Or51l14 A G 7: 103,101,371 (GRCm39) I276V probably benign Het
Or6b6 A G 7: 106,570,775 (GRCm39) Y259H probably damaging Het
Osmr A T 15: 6,873,891 (GRCm39) Y169N probably benign Het
Ovgp1 T C 3: 105,885,033 (GRCm39) V124A possibly damaging Het
P2rx1 T C 11: 72,904,939 (GRCm39) M369T probably benign Het
Pde4dip T C 3: 97,631,534 (GRCm39) Q1125R probably damaging Het
Podn A T 4: 107,878,892 (GRCm39) V180E probably damaging Het
Pold1 A T 7: 44,188,542 (GRCm39) V475E probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Satb1 G T 17: 52,047,438 (GRCm39) Q595K probably benign Het
Scaf8 T A 17: 3,214,407 (GRCm39) probably null Het
Semp2l1 T A 1: 32,585,128 (GRCm39) M261L probably benign Het
Slc22a26 T C 19: 7,779,480 (GRCm39) D112G probably damaging Het
Slc25a23 A G 17: 57,352,562 (GRCm39) F441L probably benign Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slc6a15 T C 10: 103,229,269 (GRCm39) Y103H probably damaging Het
Slx4 A G 16: 3,804,223 (GRCm39) S864P probably benign Het
Snap91 T C 9: 86,707,130 (GRCm39) E220G probably damaging Het
Spam1 T C 6: 24,796,267 (GRCm39) F73L probably damaging Het
Sphkap C T 1: 83,255,710 (GRCm39) V393M probably benign Het
Spred2 T C 11: 19,971,241 (GRCm39) Y370H probably damaging Het
Sqle T C 15: 59,195,578 (GRCm39) probably null Het
Srrm2 A G 17: 24,037,237 (GRCm39) T1390A probably benign Het
Tas1r2 A G 4: 139,396,352 (GRCm39) R564G possibly damaging Het
Tbl2 G T 5: 135,185,374 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,901 (GRCm39) D606G possibly damaging Het
Tdpoz3 T A 3: 93,734,087 (GRCm39) L254H probably damaging Het
Trpm1 A T 7: 63,884,736 (GRCm39) I806F probably damaging Het
Ttc22 A G 4: 106,496,237 (GRCm39) D429G probably benign Het
Ube2o C A 11: 116,471,972 (GRCm39) G90C probably damaging Het
Usp34 T A 11: 23,332,602 (GRCm39) F1110I probably damaging Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Vps35 A G 8: 86,013,129 (GRCm39) V116A probably benign Het
Wdfy3 A G 5: 102,046,291 (GRCm39) probably null Het
Zeb2 T C 2: 44,878,821 (GRCm39) K1138E probably benign Het
Zfp513 G A 5: 31,357,866 (GRCm39) T169I probably benign Het
Zfp629 T C 7: 127,211,551 (GRCm39) D86G probably benign Het
Other mutations in Serpinb3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Serpinb3a APN 1 106,978,789 (GRCm39) nonsense probably null
IGL01940:Serpinb3a APN 1 106,973,915 (GRCm39) missense probably damaging 1.00
IGL02077:Serpinb3a APN 1 106,974,111 (GRCm39) missense probably damaging 0.99
IGL02136:Serpinb3a APN 1 106,974,015 (GRCm39) missense probably benign 0.15
IGL02214:Serpinb3a APN 1 106,976,218 (GRCm39) critical splice donor site probably null
IGL02239:Serpinb3a APN 1 106,979,418 (GRCm39) missense probably benign 0.05
IGL02508:Serpinb3a APN 1 106,973,802 (GRCm39) missense probably damaging 1.00
IGL02533:Serpinb3a APN 1 106,974,892 (GRCm39) missense probably benign 0.00
IGL02860:Serpinb3a APN 1 106,977,183 (GRCm39) splice site probably benign
IGL03013:Serpinb3a APN 1 106,973,813 (GRCm39) missense probably damaging 1.00
IGL03391:Serpinb3a APN 1 106,974,072 (GRCm39) missense possibly damaging 0.81
R0321:Serpinb3a UTSW 1 106,975,212 (GRCm39) nonsense probably null
R0416:Serpinb3a UTSW 1 106,977,116 (GRCm39) missense probably benign 0.29
R0494:Serpinb3a UTSW 1 106,975,212 (GRCm39) nonsense probably null
R0498:Serpinb3a UTSW 1 106,974,880 (GRCm39) missense probably damaging 1.00
R1223:Serpinb3a UTSW 1 106,975,282 (GRCm39) missense probably damaging 1.00
R1596:Serpinb3a UTSW 1 106,974,904 (GRCm39) missense probably benign 0.12
R1655:Serpinb3a UTSW 1 106,973,942 (GRCm39) missense probably damaging 1.00
R2296:Serpinb3a UTSW 1 106,975,291 (GRCm39) missense probably damaging 1.00
R4327:Serpinb3a UTSW 1 106,979,500 (GRCm39) start codon destroyed probably damaging 1.00
R4612:Serpinb3a UTSW 1 106,975,337 (GRCm39) missense probably damaging 0.99
R4830:Serpinb3a UTSW 1 106,976,316 (GRCm39) missense probably benign 0.00
R5016:Serpinb3a UTSW 1 106,974,060 (GRCm39) missense probably damaging 1.00
R5483:Serpinb3a UTSW 1 106,974,899 (GRCm39) missense probably benign 0.16
R5619:Serpinb3a UTSW 1 106,974,838 (GRCm39) missense probably damaging 1.00
R7227:Serpinb3a UTSW 1 106,979,359 (GRCm39) missense probably damaging 1.00
R8277:Serpinb3a UTSW 1 106,973,970 (GRCm39) missense probably damaging 1.00
R8526:Serpinb3a UTSW 1 106,976,504 (GRCm39) splice site probably null
R8992:Serpinb3a UTSW 1 106,974,907 (GRCm39) missense probably damaging 0.97
R9335:Serpinb3a UTSW 1 106,974,886 (GRCm39) missense probably damaging 1.00
R9799:Serpinb3a UTSW 1 106,974,892 (GRCm39) missense probably benign 0.00
Z1177:Serpinb3a UTSW 1 106,978,738 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCTTTGAAGACATAACGCTGAGG -3'
(R):5'- GACTCTTGTAAAGCATCCTCCAGG -3'

Sequencing Primer
(F):5'- AAGACATAACGCTGAGGTGTTTTG -3'
(R):5'- GCTCCTTGTACTGATGATAGACAC -3'
Posted On 2014-10-01