Incidental Mutation 'R8114:Serpinb3c'
ID 631044
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
MMRRC Submission 067543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8114 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 107198931-107206101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107204034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 59 (N59K)
Ref Sequence ENSEMBL: ENSMUSP00000027565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027565] [ENSMUST00000166100]
AlphaFold A2RSF9
Predicted Effect probably benign
Transcript: ENSMUST00000027565
AA Change: N59K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: N59K

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: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.7%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik G T 16: 14,407,091 (GRCm39) E7* probably null Het
Abca7 T C 10: 79,844,874 (GRCm39) I1532T probably damaging Het
Adam12 T C 7: 133,569,617 (GRCm39) D286G probably damaging Het
Ahnak2 T C 12: 112,741,163 (GRCm39) T970A probably benign Het
Apcdd1 A G 18: 63,083,127 (GRCm39) N319S probably damaging Het
Arih1 A G 9: 59,303,836 (GRCm39) M423T probably benign Het
Ccdc110 A T 8: 46,396,140 (GRCm39) Q677L probably damaging Het
Ccdc121rt3 C A 5: 112,503,563 (GRCm39) R47L probably benign Het
Ccdc171 A G 4: 83,614,537 (GRCm39) N1046S probably damaging Het
Ccdc63 G T 5: 122,251,244 (GRCm39) Q389K possibly damaging Het
Cd274 T C 19: 29,361,528 (GRCm39) S279P probably damaging Het
Cdcp2 A T 4: 106,962,555 (GRCm39) I243F probably damaging Het
Cfap298 T C 16: 90,731,545 (GRCm39) T22A probably benign Het
Cul2 A T 18: 3,426,164 (GRCm39) K414* probably null Het
Daglb A G 5: 143,464,218 (GRCm39) H243R probably benign Het
Dnah5 A T 15: 28,240,122 (GRCm39) Y493F probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Eea1 G T 10: 95,830,851 (GRCm39) E171* probably null Het
Eml6 C T 11: 29,704,910 (GRCm39) G1545R probably damaging Het
Epg5 A G 18: 78,073,365 (GRCm39) I2463V probably benign Het
Fgl1 A G 8: 41,644,620 (GRCm39) Y295H probably damaging Het
Frrs1 A G 3: 116,675,425 (GRCm39) T118A probably damaging Het
Gdi2 T C 13: 3,598,906 (GRCm39) V30A probably damaging Het
Ints4 A G 7: 97,165,732 (GRCm39) probably null Het
Iqsec3 A G 6: 121,390,458 (GRCm39) S338P unknown Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Ldah A G 12: 8,334,039 (GRCm39) E310G probably damaging Het
Mtnr1b A G 9: 15,785,563 (GRCm39) V65A probably damaging Het
Myo7b G T 18: 32,098,677 (GRCm39) T1735K probably damaging Het
Neb A T 2: 52,215,734 (GRCm39) V191D possibly damaging Het
Oas1e T C 5: 120,924,708 (GRCm39) T377A unknown Het
Odr4 A T 1: 150,264,308 (GRCm39) L67* probably null Het
Or10al6 T C 17: 38,082,880 (GRCm39) F112S possibly damaging Het
Or10v9 G A 19: 11,832,466 (GRCm39) P284S probably damaging Het
Or8k53 A T 2: 86,177,530 (GRCm39) H193Q probably benign Het
Platr25 T C 13: 62,821,738 (GRCm39) S70G possibly damaging Het
Plcl2 T C 17: 50,994,815 (GRCm39) S1095P probably damaging Het
Polq A G 16: 36,862,577 (GRCm39) K637E possibly damaging Het
Rbm47 T C 5: 66,184,196 (GRCm39) I136V probably benign Het
Shcbp1 T A 8: 4,817,930 (GRCm39) N122Y probably damaging Het
Sim2 T C 16: 93,923,503 (GRCm39) V347A probably benign Het
Slc22a30 A T 19: 8,381,904 (GRCm39) Y122* probably null Het
Slc34a2 G A 5: 53,225,701 (GRCm39) S450N probably benign Het
Snx17 A T 5: 31,355,046 (GRCm39) M354L probably benign Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Surf6 G A 2: 26,782,380 (GRCm39) Q316* probably null Het
Tiprl A G 1: 165,055,991 (GRCm39) S44P probably benign Het
Tmem39a T G 16: 38,411,359 (GRCm39) L438R probably damaging Het
Tmem39a C A 16: 38,411,358 (GRCm39) L438M probably damaging Het
Tns2 G C 15: 102,019,825 (GRCm39) V572L probably benign Het
Trdn T C 10: 32,959,624 (GRCm39) probably benign Het
Trpc7 T C 13: 56,952,411 (GRCm39) I587V probably benign Het
Usp47 A G 7: 111,692,394 (GRCm39) D952G probably damaging Het
Vmn2r58 A T 7: 41,511,392 (GRCm39) N470K probably damaging Het
Vmn2r67 A T 7: 84,805,097 (GRCm39) I5N probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Ythdc2 A G 18: 45,010,807 (GRCm39) D1272G probably benign Het
Zfp959 A G 17: 56,205,496 (GRCm39) Y511C probably benign 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
BB011: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
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'- AGGGCAGAGCTTTGGTCATG -3'
(R):5'- GCACTGAGAGAATGGGCATC -3'

Sequencing Primer
(F):5'- CCTACCTGTGAGGGTTAGAGC -3'
(R):5'- CACTGAGAGAATGGGCATCTATTTG -3'
Posted On 2020-06-30