Incidental Mutation 'R9799:Serpinb3a'
ID 735081
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9799 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 106973317-106980033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 106974892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 214 (I214L)
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: I214L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: I214L

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112717
AA Change: I214L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: I214L

DomainStartEndE-ValueType
SERPIN 13 387 6.36e-182 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,998 (GRCm39) Y1309C probably benign Het
Adcy2 T C 13: 68,768,961 (GRCm39) T1056A probably benign Het
Adcy2 T A 13: 68,805,489 (GRCm39) R826S probably damaging Het
Agxt T C 1: 93,063,070 (GRCm39) W19R probably benign Het
Akr1b8 G A 6: 34,333,278 (GRCm39) E52K possibly damaging Het
Arhgef10 T C 8: 14,990,268 (GRCm39) Y248H probably damaging Het
Arhgef38 T C 3: 132,855,391 (GRCm39) D232G unknown Het
Arid4b T C 13: 14,358,967 (GRCm39) S668P probably benign Het
Ccdc136 T A 6: 29,417,505 (GRCm39) S775R probably damaging Het
Ccl25 T C 8: 4,377,799 (GRCm39) F20L unknown Het
Cimap1a A T 7: 140,430,706 (GRCm39) E254D probably benign Het
Cr2 T A 1: 194,842,988 (GRCm39) H218L probably benign Het
Csnka2ip T C 16: 64,298,672 (GRCm39) K564R unknown Het
Cyp2r1 A G 7: 114,151,207 (GRCm39) F371L probably benign Het
Ddx50 A T 10: 62,469,812 (GRCm39) F392I probably damaging Het
Dnah7a T C 1: 53,557,968 (GRCm39) T2149A probably benign Het
Emx2 A G 19: 59,448,036 (GRCm39) Y130C possibly damaging Het
Erbin T C 13: 103,971,384 (GRCm39) D744G probably benign Het
Gcm2 T C 13: 41,258,924 (GRCm39) N140S probably damaging Het
Gnai2 C T 9: 107,512,380 (GRCm39) A13T probably benign Het
Gpr150 T C 13: 76,204,636 (GRCm39) Y103C possibly damaging Het
Gstp2 A G 19: 4,091,901 (GRCm39) probably null Het
Kdr A G 5: 76,117,752 (GRCm39) I667T possibly damaging Het
Lpin1 A G 12: 16,612,400 (GRCm39) I534T Het
Lrrtm3 T A 10: 63,925,749 (GRCm39) probably benign Het
Meiob C T 17: 25,042,574 (GRCm39) T134I probably benign Het
Msh2 G T 17: 88,024,933 (GRCm39) A604S probably damaging Het
Mterf3 T C 13: 67,062,780 (GRCm39) T319A possibly damaging Het
Myo3a C T 2: 22,490,181 (GRCm39) T1514I probably damaging Het
Ndfip2 T C 14: 105,496,400 (GRCm39) M98T possibly damaging Het
Nfatc2ip A G 7: 125,989,739 (GRCm39) V215A probably damaging Het
Or52e19 A T 7: 102,959,065 (GRCm39) T46S probably damaging Het
Or8k41 A T 2: 86,313,732 (GRCm39) M118K probably damaging Het
Pabpc6 C T 17: 9,888,114 (GRCm39) E146K probably damaging Het
Pde3b A G 7: 114,122,613 (GRCm39) Y727C probably damaging Het
Pemt A G 11: 59,937,174 (GRCm39) F30L possibly damaging Het
Plch1 A G 3: 63,605,591 (GRCm39) S1438P possibly damaging Het
Pnma2 T A 14: 67,154,009 (GRCm39) H144Q probably benign Het
Ppp1r14b A G 19: 6,952,825 (GRCm39) N70S possibly damaging Het
Psmd1 T A 1: 86,054,236 (GRCm39) M725K possibly damaging Het
Rab3gap1 A G 1: 127,858,489 (GRCm39) K533E probably benign Het
Rb1cc1 C A 1: 6,315,126 (GRCm39) H426Q probably damaging Het
Rimbp3 A G 16: 17,027,641 (GRCm39) E355G possibly damaging Het
Rxfp1 A G 3: 79,578,182 (GRCm39) F170L probably damaging Het
Sema3f G T 9: 107,562,562 (GRCm39) A473E probably damaging Het
Siglec1 G T 2: 130,915,941 (GRCm39) P1307Q probably damaging Het
Srd5a2 A C 17: 74,331,535 (GRCm39) I154S possibly damaging Het
Sugp1 A G 8: 70,523,068 (GRCm39) E537G probably damaging Het
Tbc1d30 T C 10: 121,142,074 (GRCm39) E91G possibly damaging Het
Tiparp A T 3: 65,454,973 (GRCm39) N373Y probably benign Het
Tmem217 A C 17: 29,745,232 (GRCm39) I166S probably damaging Het
Top1 T A 2: 160,563,406 (GRCm39) Y746N probably damaging Het
Tubb2a C T 13: 34,260,607 (GRCm39) D31N probably benign Het
Utrn T G 10: 12,585,736 (GRCm39) I1014L probably benign Het
Vtn T C 11: 78,392,625 (GRCm39) I401T probably benign Het
Wwc2 G T 8: 48,321,595 (GRCm39) H506Q unknown Het
Xab2 G T 8: 3,668,182 (GRCm39) T132N 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
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
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
Z1177:Serpinb3a UTSW 1 106,978,738 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGGTGAGACACAATATCTCCC -3'
(R):5'- GTAACTCTGTGTAGACCTCAAAAC -3'

Sequencing Primer
(F):5'- GTGAGACACAATATCTCCCTTTAAAC -3'
(R):5'- ACACCTCAGCGTTATGTCTTCAAAG -3'
Posted On 2022-11-14