Incidental Mutation 'BB011:Serpinb3c'
ID 642608
Institutional Source Beutler Lab
Gene Symbol Serpinb3c
Ensembl Gene ENSMUSG00000073601
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 3C
Synonyms ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # BB011
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 107198931-107206101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107200904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 171 (L171P)
Ref Sequence ENSEMBL: ENSMUSP00000027565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027565] [ENSMUST00000166100]
AlphaFold A2RSF9
Predicted Effect probably damaging
Transcript: ENSMUST00000027565
AA Change: L171P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: L171P

DomainStartEndE-ValueType
SERPIN 13 386 7.91e-169 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166100
SMART Domains Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602

DomainStartEndE-ValueType
SERPIN 13 387 4.75e-181 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,383,281 (GRCm39) K2155E possibly damaging Het
Adgre5 G A 8: 84,456,029 (GRCm39) P256S possibly damaging Het
Adipor1 T A 1: 134,353,731 (GRCm39) V172D probably damaging Het
Ahsa1 T C 12: 87,317,230 (GRCm39) probably null Het
Ankrd11 T C 8: 123,622,641 (GRCm39) I404V possibly damaging Het
Asxl3 G A 18: 22,658,602 (GRCm39) R2204Q probably damaging Het
Barhl2 A G 5: 106,605,515 (GRCm39) S65P unknown Het
Bbx A T 16: 50,044,671 (GRCm39) L630H probably damaging Het
Cars1 T C 7: 143,123,608 (GRCm39) T531A possibly damaging Het
Catsperb T A 12: 101,486,824 (GRCm39) H450Q probably benign Het
Cdt1 T C 8: 123,296,091 (GRCm39) L135P probably damaging Het
Cfap206 T A 4: 34,728,833 (GRCm39) H24L probably benign Het
Cilk1 T C 9: 78,062,746 (GRCm39) L260P probably damaging Het
Cnga4 T A 7: 105,057,028 (GRCm39) V480E probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dlc1 T C 8: 37,038,570 (GRCm39) R1003G probably benign Het
Dnah7b A G 1: 46,258,590 (GRCm39) D1927G probably benign Het
Dscc1 A T 15: 54,945,572 (GRCm39) D374E probably benign Het
Eci2 G A 13: 35,177,053 (GRCm39) Q69* probably null Het
Ep300 C A 15: 81,533,703 (GRCm39) P1920Q unknown Het
Epha5 A G 5: 84,232,705 (GRCm39) Y629H possibly damaging Het
Fat2 G A 11: 55,153,613 (GRCm39) T3533I probably benign Het
Fat3 T C 9: 15,910,593 (GRCm39) N1803S probably damaging Het
Fcrl2 T C 3: 87,166,840 (GRCm39) Y51C probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gcnt2 A T 13: 41,072,040 (GRCm39) K228* probably null Het
Gucy2c A T 6: 136,740,053 (GRCm39) V258E probably benign Het
Hecw1 C A 13: 14,497,113 (GRCm39) L298F probably damaging Het
Hydin T G 8: 111,145,103 (GRCm39) V818G possibly damaging Het
Hykk A G 9: 54,829,524 (GRCm39) Y131C probably damaging Het
Mpo A G 11: 87,685,666 (GRCm39) D48G probably damaging Het
Mrps10 T C 17: 47,689,208 (GRCm39) *202Q probably null Het
Mrps14 T C 1: 160,024,559 (GRCm39) V30A probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Muc2 G T 7: 141,281,631 (GRCm39) G497W probably damaging Het
Nnt A T 13: 119,523,181 (GRCm39) V237D probably damaging Het
Nox4 G T 7: 87,023,589 (GRCm39) V492L probably benign Het
Obscn C G 11: 59,003,381 (GRCm39) E1306Q probably benign Het
Or5ak23 T C 2: 85,244,563 (GRCm39) Y220C probably benign Het
Or6aa1 A G 7: 86,043,938 (GRCm39) I256T probably damaging Het
Pard3 A G 8: 128,137,231 (GRCm39) N861S probably benign Het
Pdlim4 G A 11: 53,946,048 (GRCm39) R230* probably null Het
Pinlyp C T 7: 24,241,550 (GRCm39) V159M possibly damaging Het
Plcb1 A T 2: 135,201,613 (GRCm39) T855S probably benign Het
Pot1a T A 6: 25,753,309 (GRCm39) D409V possibly damaging Het
Prom1 T C 5: 44,187,111 (GRCm39) D382G probably benign Het
Prss16 A T 13: 22,192,834 (GRCm39) N83K probably damaging Het
Ptprn2 A G 12: 116,804,884 (GRCm39) D133G probably benign Het
Rasef C T 4: 73,659,166 (GRCm39) probably null Het
Rbak A G 5: 143,160,241 (GRCm39) S271P probably damaging Het
Rbm20 A T 19: 53,666,016 (GRCm39) I60F possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rsf1 G GACGGCCGCC 7: 97,229,116 (GRCm39) probably benign Het
Slc25a19 T C 11: 115,506,376 (GRCm39) Y211C unknown Het
Sorbs2 C T 8: 46,248,507 (GRCm39) S586L probably damaging Het
Spesp1 A T 9: 62,180,733 (GRCm39) S58R probably benign Het
Spryd3 A G 15: 102,026,762 (GRCm39) I329T probably benign Het
St8sia2 G A 7: 73,616,700 (GRCm39) L113F probably damaging Het
Star T C 8: 26,299,883 (GRCm39) I75T possibly damaging Het
Tasor2 A T 13: 3,644,331 (GRCm39) F129Y possibly damaging Het
Tdrd6 T A 17: 43,938,697 (GRCm39) I784F possibly damaging Het
Tex55 G A 16: 38,632,826 (GRCm39) Q369* probably null Het
Tsc22d4 A G 5: 137,766,273 (GRCm39) I144V unknown Het
Tspan8 T C 10: 115,669,229 (GRCm39) probably null Het
Ttll9 C T 2: 152,804,407 (GRCm39) probably benign Het
Ubr4 T G 4: 139,194,587 (GRCm39) L1160R unknown Het
Ufd1 A G 16: 18,642,035 (GRCm39) Y162C possibly damaging Het
Unc13c A T 9: 73,641,690 (GRCm39) F1268I probably benign Het
Uvssa T C 5: 33,568,295 (GRCm39) I561T probably damaging Het
Vmn2r15 A T 5: 109,434,254 (GRCm39) S817T probably damaging Het
Ybx1 T C 4: 119,139,476 (GRCm39) E173G probably damaging Het
Zc3h6 T C 2: 128,857,400 (GRCm39) S640P possibly damaging Het
Other mutations in Serpinb3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Serpinb3c APN 1 107,203,990 (GRCm39) critical splice donor site probably null
IGL01349:Serpinb3c APN 1 107,200,513 (GRCm39) missense probably damaging 1.00
IGL01730:Serpinb3c APN 1 107,200,914 (GRCm39) missense probably damaging 0.99
IGL01732:Serpinb3c APN 1 107,199,702 (GRCm39) missense probably benign
IGL02184:Serpinb3c APN 1 107,199,648 (GRCm39) missense probably damaging 0.96
IGL02742:Serpinb3c APN 1 107,200,872 (GRCm39) nonsense probably null
IGL03131:Serpinb3c APN 1 107,199,457 (GRCm39) missense probably benign 0.09
IGL03394:Serpinb3c APN 1 107,199,603 (GRCm39) missense probably benign 0.00
BB001:Serpinb3c UTSW 1 107,200,904 (GRCm39) missense probably damaging 1.00
R0207:Serpinb3c UTSW 1 107,204,722 (GRCm39) missense probably benign 0.02
R0508:Serpinb3c UTSW 1 107,204,651 (GRCm39) missense probably damaging 1.00
R1542:Serpinb3c UTSW 1 107,200,517 (GRCm39) missense probably damaging 1.00
R1660:Serpinb3c UTSW 1 107,199,432 (GRCm39) missense probably damaging 1.00
R1731:Serpinb3c UTSW 1 107,199,504 (GRCm39) missense probably damaging 0.99
R2012:Serpinb3c UTSW 1 107,199,574 (GRCm39) missense possibly damaging 0.92
R5361:Serpinb3c UTSW 1 107,204,661 (GRCm39) nonsense probably null
R5464:Serpinb3c UTSW 1 107,199,434 (GRCm39) missense probably damaging 0.99
R5636:Serpinb3c UTSW 1 107,202,744 (GRCm39) missense possibly damaging 0.57
R5677:Serpinb3c UTSW 1 107,199,533 (GRCm39) missense probably damaging 1.00
R5965:Serpinb3c UTSW 1 107,204,653 (GRCm39) missense probably benign 0.01
R6424:Serpinb3c UTSW 1 107,199,359 (GRCm39) makesense probably null
R7132:Serpinb3c UTSW 1 107,204,681 (GRCm39) missense probably damaging 0.96
R7161:Serpinb3c UTSW 1 107,200,892 (GRCm39) missense probably null 1.00
R7319:Serpinb3c UTSW 1 107,200,817 (GRCm39) missense possibly damaging 0.92
R7437:Serpinb3c UTSW 1 107,199,444 (GRCm39) missense probably damaging 1.00
R7871:Serpinb3c UTSW 1 107,200,883 (GRCm39) missense possibly damaging 0.95
R7922:Serpinb3c UTSW 1 107,199,744 (GRCm39) missense probably damaging 1.00
R7924:Serpinb3c UTSW 1 107,200,904 (GRCm39) missense probably damaging 1.00
R8114:Serpinb3c UTSW 1 107,204,034 (GRCm39) missense probably benign 0.03
R8189:Serpinb3c UTSW 1 107,204,039 (GRCm39) missense probably benign 0.00
R8384:Serpinb3c UTSW 1 107,199,697 (GRCm39) missense probably benign 0.02
R9042:Serpinb3c UTSW 1 107,199,731 (GRCm39) missense probably damaging 1.00
R9518:Serpinb3c UTSW 1 107,200,468 (GRCm39) missense probably damaging 0.99
R9566:Serpinb3c UTSW 1 107,200,425 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTTGAAGATAGAACCCTGAGG -3'
(R):5'- AGCACATTGAGGAAGGCTATATCC -3'

Sequencing Primer
(F):5'- AGGCCAACAGTACCTTGT -3'
(R):5'- GGAAGGCTATATCCTATGAACAGATC -3'
Posted On 2020-08-01