Incidental Mutation 'R5619:Serpinb3a'
ID 439678
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 043278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5619 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106973317-106980033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106974838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 232 (P232S)
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
AlphaFold G3X9V8
Predicted Effect probably damaging
Transcript: ENSMUST00000027567
AA Change: P232S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: P232S

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112717
AA Change: P232S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: P232S

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Meta Mutation Damage Score 0.8231 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 99% (80/81)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adgre1 T G 17: 57,727,437 (GRCm39) L456V probably benign Het
Adgrv1 C T 13: 81,620,619 (GRCm39) G3943R probably damaging Het
Akap9 A G 5: 4,004,760 (GRCm39) probably benign Het
Atp1a2 T A 1: 172,106,948 (GRCm39) I791F probably damaging Het
BC004004 C G 17: 29,501,703 (GRCm39) P81A probably damaging Het
Brca2 C A 5: 150,480,579 (GRCm39) T2755K probably damaging Het
Cacna1c T C 6: 118,719,322 (GRCm39) D215G probably damaging Het
Ccdc142 C T 6: 83,080,603 (GRCm39) S445F probably benign Het
Comt T C 16: 18,230,469 (GRCm39) E80G probably damaging Het
Coq7 T C 7: 118,126,709 (GRCm39) probably benign Het
Coro7 C A 16: 4,494,799 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,228 (GRCm39) S239P probably damaging Het
Dnah5 T C 15: 28,302,581 (GRCm39) S1613P probably damaging Het
Dync2h1 T C 9: 7,118,885 (GRCm39) I2193M probably benign Het
Eipr1 A G 12: 28,917,078 (GRCm39) Y382C probably damaging Het
Fastkd2 T A 1: 63,778,469 (GRCm39) H447Q probably benign Het
Galk2 A T 2: 125,817,317 (GRCm39) R369* probably null Het
Gli2 G A 1: 118,764,485 (GRCm39) A1222V probably benign Het
Golim4 T A 3: 75,813,802 (GRCm39) K141* probably null Het
Gtpbp3 G T 8: 71,943,692 (GRCm39) probably benign Het
Gzmd C T 14: 56,367,224 (GRCm39) A223T probably benign Het
Igf2r T C 17: 12,958,221 (GRCm39) R151G probably damaging Het
Itga8 T A 2: 12,270,139 (GRCm39) R116W probably damaging Het
Klhdc1 T G 12: 69,304,919 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,602 (GRCm39) Y198H probably benign Het
Klhl29 A T 12: 5,190,587 (GRCm39) M136K probably benign Het
Lipf A T 19: 33,944,292 (GRCm39) Y167F possibly damaging Het
Lpar1 T C 4: 58,487,155 (GRCm39) K39E possibly damaging Het
Mbtd1 T A 11: 93,820,705 (GRCm39) probably null Het
Myo1a T A 10: 127,554,413 (GRCm39) N794K probably benign Het
Nmrk1 T C 19: 18,622,452 (GRCm39) L177P possibly damaging Het
Noxa1 C T 2: 24,975,988 (GRCm39) E401K probably damaging Het
Or10g9b T A 9: 39,918,039 (GRCm39) M69L probably benign Het
Or4f53 A T 2: 111,087,856 (GRCm39) Y132F probably damaging Het
Ostm1 T A 10: 42,555,325 (GRCm39) C116S probably damaging Het
Pcdhga7 T C 18: 37,848,800 (GRCm39) I269T probably benign Het
Pfkfb3 T C 2: 11,489,470 (GRCm39) K276R probably benign Het
Pfkp A T 13: 6,648,765 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,153,270 (GRCm39) D142G probably damaging Het
Pkp3 T C 7: 140,668,419 (GRCm39) L556P probably damaging Het
Plb1 C A 5: 32,490,841 (GRCm39) T1046N probably damaging Het
Plxnb2 T C 15: 89,047,012 (GRCm39) S770G possibly damaging Het
Polk A T 13: 96,620,064 (GRCm39) I733N probably damaging Het
Potegl T C 2: 23,147,017 (GRCm39) probably null Het
Prkg2 C A 5: 99,136,156 (GRCm39) C301F probably damaging Het
Rabgap1l T C 1: 160,066,142 (GRCm39) T189A probably benign Het
Raph1 T C 1: 60,529,414 (GRCm39) probably benign Het
Rbm22 T A 18: 60,693,899 (GRCm39) M1K probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf186 T A 4: 138,694,715 (GRCm39) I85N probably benign Het
Ryr2 C A 13: 11,723,088 (GRCm39) R2517L probably damaging Het
Sec63 T A 10: 42,665,378 (GRCm39) Y103N probably damaging Het
Slco6d1 C A 1: 98,423,947 (GRCm39) T533K probably damaging Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Spata46 A T 1: 170,136,490 (GRCm39) I14F probably damaging Het
Speer4b T C 5: 27,703,815 (GRCm39) H106R possibly damaging Het
Spint4 T C 2: 164,542,761 (GRCm39) L118P probably benign Het
Sptbn5 A G 2: 119,880,613 (GRCm39) noncoding transcript Het
Tgfbr3 A T 5: 107,288,380 (GRCm39) I427N probably benign Het
Thbs2 C A 17: 14,901,506 (GRCm39) C491F probably damaging Het
Tmem232 T A 17: 65,793,506 (GRCm39) E64D probably benign Het
Tnpo3 A T 6: 29,565,197 (GRCm39) C585* probably null Het
Ttc13 A T 8: 125,406,683 (GRCm39) probably benign Het
Tuba8 C T 6: 121,202,854 (GRCm39) A389V probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp25 A G 16: 76,830,833 (GRCm39) I30V probably benign Het
Vmn2r31 T A 7: 7,387,529 (GRCm39) K681* probably null Het
Vmn2r88 A G 14: 51,651,367 (GRCm39) E235G probably damaging Het
Vps29 T A 5: 122,492,511 (GRCm39) probably benign Het
Wdr1 A C 5: 38,686,879 (GRCm39) V568G possibly damaging Het
Zfp64 T G 2: 168,741,734 (GRCm39) Q398P probably damaging Het
Zfp64 G T 2: 168,741,735 (GRCm39) Q398K probably damaging Het
Zfp839 T C 12: 110,830,470 (GRCm39) Y398H probably damaging 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
R2156:Serpinb3a UTSW 1 106,975,202 (GRCm39) critical splice donor site probably null
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
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'- ACAGGGTGAGACACAATATCTCC -3'
(R):5'- CCTCAGCGTTATGTCTTCAAAG -3'

Sequencing Primer
(F):5'- GTGAGACACAATATCTCCCTTTAAAC -3'
(R):5'- CTCAGCGTTATGTCTTCAAAGAATGC -3'
Posted On 2016-11-08