Incidental Mutation 'R4830:Serpinb3a'
ID 372718
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 042446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4830 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106973317-106980033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106976316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 122 (E122K)
Ref Sequence ENSEMBL: ENSMUSP00000108337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027567] [ENSMUST00000112717]
AlphaFold G3X9V8
Predicted Effect probably benign
Transcript: ENSMUST00000027567
AA Change: E122K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: E122K

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112717
AA Change: E122K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: E122K

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,553,933 (GRCm39) G643V probably damaging Het
Adamtsl1 A G 4: 86,274,619 (GRCm39) E1225G probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Ankle2 A C 5: 110,389,879 (GRCm39) K446Q probably damaging Het
Boc A C 16: 44,310,520 (GRCm39) M800R probably damaging Het
Ccnt1 A T 15: 98,441,332 (GRCm39) N645K probably damaging Het
Cd93 G A 2: 148,285,299 (GRCm39) Q16* probably null Het
Cpsf4l G T 11: 113,600,328 (GRCm39) probably benign Het
Cuzd1 T A 7: 130,919,783 (GRCm39) D111V probably damaging Het
Dab2 T C 15: 6,457,008 (GRCm39) C232R probably benign Het
Dmpk A T 7: 18,821,453 (GRCm39) Y237F probably damaging Het
Dnah6 T A 6: 73,021,745 (GRCm39) T3526S possibly damaging Het
Dock2 T C 11: 34,223,767 (GRCm39) probably null Het
Dsp G A 13: 38,376,840 (GRCm39) V1542I probably benign Het
Dst T A 1: 34,237,586 (GRCm39) probably null Het
Esd T C 14: 74,978,600 (GRCm39) L54S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Gm3604 A T 13: 62,516,857 (GRCm39) N500K probably damaging Het
Grhl2 T A 15: 37,335,903 (GRCm39) probably null Het
Gsto1 C T 19: 47,852,830 (GRCm39) R222C probably benign Het
Inpp4a T A 1: 37,410,861 (GRCm39) M343K probably damaging Het
Itpripl2 T C 7: 118,090,280 (GRCm39) Q93R probably benign Het
Jakmip2 G A 18: 43,700,208 (GRCm39) T450I probably benign Het
Kdm6b A T 11: 69,294,620 (GRCm39) I1186N unknown Het
Kif1a T C 1: 92,948,931 (GRCm39) probably null Het
Klhl20 T C 1: 160,925,946 (GRCm39) K434R probably benign Het
Lemd3 T C 10: 120,767,853 (GRCm39) D697G probably damaging Het
Lipo3 A G 19: 33,753,987 (GRCm39) S383P probably damaging Het
Ltn1 C A 16: 87,176,582 (GRCm39) K1741N probably damaging Het
Lvrn A T 18: 47,038,418 (GRCm39) T991S probably damaging Het
Macroh2a2 C T 10: 61,575,132 (GRCm39) D355N possibly damaging Het
Mast3 C A 8: 71,241,559 (GRCm39) R151L possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb G T 2: 52,082,532 (GRCm39) Q5450K probably damaging Het
Nedd1 T A 10: 92,522,120 (GRCm39) N639I probably damaging Het
Nlrp4e A T 7: 23,036,165 (GRCm39) N673Y probably benign Het
Nop53 C T 7: 15,676,129 (GRCm39) R190Q probably damaging Het
Notch4 T C 17: 34,789,092 (GRCm39) Y468H probably damaging Het
Obscn T C 11: 58,958,433 (GRCm39) T3507A probably damaging Het
Opn5 T C 17: 42,922,187 (GRCm39) H5R probably benign Het
Or4l15 T C 14: 50,197,681 (GRCm39) N283D probably damaging Het
Patl1 T C 19: 11,902,515 (GRCm39) M349T probably benign Het
Phactr3 A G 2: 177,925,811 (GRCm39) N362S probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Rapgef5 G A 12: 117,719,809 (GRCm39) R579Q probably damaging Het
Rgl1 T C 1: 152,430,081 (GRCm39) D234G probably benign Het
Slc22a15 T C 3: 101,782,919 (GRCm39) probably benign Het
Slc25a12 A T 2: 71,127,149 (GRCm39) V344E probably damaging Het
Slc43a2 T C 11: 75,434,119 (GRCm39) L99P probably damaging Het
Smim27 G T 4: 40,269,719 (GRCm39) probably null Het
Smtn A G 11: 3,470,736 (GRCm39) probably benign Het
Szt2 A T 4: 118,226,445 (GRCm39) Y3001N unknown Het
Tgfbr3 G T 5: 107,257,585 (GRCm39) P825T probably damaging Het
Tnpo3 T C 6: 29,568,937 (GRCm39) T472A probably benign Het
Trf T A 9: 103,105,114 (GRCm39) D66V probably damaging Het
Vmn1r124 A G 7: 20,993,624 (GRCm39) C307R probably damaging Het
Vps13b T A 15: 35,452,370 (GRCm39) F656Y possibly damaging Het
Zic1 G T 9: 91,244,584 (GRCm39) S358R 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
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'- TGTTACAGTGGAGGCTCCTG -3'
(R):5'- ATTGCCTACCTATTACCTGAGTG -3'

Sequencing Primer
(F):5'- GAGGCTCCTGATTCTCAAAGAGTC -3'
(R):5'- CCTACCTATTACCTGAGTGAAAAATC -3'
Posted On 2016-03-01