Incidental Mutation 'R9489:Serpinb6c'
ID 716855
Institutional Source Beutler Lab
Gene Symbol Serpinb6c
Ensembl Gene ENSMUSG00000052180
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6c
Synonyms Spi3C, SPIC, ovalbumin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R9489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 34063799-34089691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34081421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 76 (Q76L)
Ref Sequence ENSEMBL: ENSMUSP00000127619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110273] [ENSMUST00000172184] [ENSMUST00000222216]
AlphaFold W4VSP4
Predicted Effect probably benign
Transcript: ENSMUST00000110273
AA Change: Q76L

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: Q76L

DomainStartEndE-ValueType
SERPIN 13 378 7.5e-170 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172184
AA Change: Q76L

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: Q76L

DomainStartEndE-ValueType
SERPIN 14 379 7.5e-170 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222216
AA Change: Q76L

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 61,002,683 (GRCm39) S24C probably damaging Het
6430548M08Rik G A 8: 120,872,380 (GRCm39) V103I possibly damaging Het
Acaca C T 11: 84,183,842 (GRCm39) T1240I probably benign Het
Adam19 T C 11: 46,028,449 (GRCm39) V694A probably benign Het
Adipor1 A G 1: 134,352,553 (GRCm39) D108G probably damaging Het
Arhgef4 A G 1: 34,761,745 (GRCm39) T334A unknown Het
Bcl11a T C 11: 24,114,582 (GRCm39) F642L probably benign Het
Camk2d T C 3: 126,561,209 (GRCm39) Y108H probably damaging Het
Castor2 G T 5: 134,164,536 (GRCm39) V166L probably benign Het
Catsper1 A G 19: 5,387,785 (GRCm39) T355A probably benign Het
Ccdc69 T A 11: 54,945,856 (GRCm39) N50I possibly damaging Het
Chd8 A T 14: 52,457,055 (GRCm39) L971Q probably damaging Het
Chrna10 C A 7: 101,762,801 (GRCm39) A130S probably benign Het
Ciao1 G A 2: 127,087,684 (GRCm39) T217I probably damaging Het
Cldn1 A T 16: 26,181,924 (GRCm39) I95N probably damaging Het
Cluh C T 11: 74,558,772 (GRCm39) R1253C possibly damaging Het
Cngb3 A T 4: 19,505,187 (GRCm39) Q640L probably benign Het
Cyp2c40 A T 19: 39,766,443 (GRCm39) V384D probably damaging Het
Cyp2d26 T A 15: 82,674,672 (GRCm39) M437L probably benign Het
Cyp2j7 T C 4: 96,103,591 (GRCm39) T315A probably damaging Het
D430041D05Rik A G 2: 104,087,189 (GRCm39) S596P probably benign Het
Dagla A T 19: 10,233,053 (GRCm39) V448D probably damaging Het
Ddx59 A T 1: 136,344,594 (GRCm39) E88D probably benign Het
Dnhd1 A G 7: 105,300,804 (GRCm39) I54V probably benign Het
Dnttip1 A C 2: 164,593,162 (GRCm39) D95A probably benign Het
Efna3 T C 3: 89,222,818 (GRCm39) T207A probably benign Het
Eprs1 A C 1: 185,139,895 (GRCm39) S995R probably benign Het
Eprs1 G A 1: 185,139,896 (GRCm39) S995N probably benign Het
Erbb2 T C 11: 98,311,746 (GRCm39) V94A possibly damaging Het
Etl4 A T 2: 20,771,345 (GRCm39) I607F possibly damaging Het
Ets2 G T 16: 95,516,121 (GRCm39) E234* probably null Het
Fgf6 A C 6: 126,992,814 (GRCm39) Y89S probably damaging Het
Fmn2 C T 1: 174,436,194 (GRCm39) Q722* probably null Het
Gata3un CGG CG 2: 9,888,075 (GRCm39) probably null Het
Gdpd5 A G 7: 99,103,031 (GRCm39) D330G Het
Glipr1 A G 10: 111,832,801 (GRCm39) S46P probably damaging Het
Gnptab A G 10: 88,268,992 (GRCm39) Y565C probably damaging Het
H2-M10.2 C T 17: 36,596,936 (GRCm39) V47I probably benign Het
Heatr5b T A 17: 79,060,679 (GRCm39) K1999* probably null Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Kif9 G A 9: 110,346,710 (GRCm39) R616H probably benign Het
Krt87 G T 15: 101,336,484 (GRCm39) C56* probably null Het
Ldlr A G 9: 21,646,626 (GRCm39) D264G probably damaging Het
Lrrk2 A T 15: 91,621,420 (GRCm39) D998V probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mmp9 A G 2: 164,793,146 (GRCm39) N432D probably benign Het
Mrc1 A G 2: 14,324,110 (GRCm39) N1149S probably benign Het
Mta1 A T 12: 113,095,085 (GRCm39) M448L probably benign Het
Myo1c T A 11: 75,559,899 (GRCm39) V661E probably benign Het
Ndc1 T C 4: 107,247,863 (GRCm39) probably null Het
Npy A C 6: 49,804,545 (GRCm39) T89P possibly damaging Het
Or12e13 T G 2: 87,663,478 (GRCm39) F32V probably benign Het
Or52e19 A G 7: 102,959,452 (GRCm39) I175V probably benign Het
Or52e8 A T 7: 104,624,856 (GRCm39) M116K probably damaging Het
Or8b12i A G 9: 20,082,093 (GRCm39) V258A probably damaging Het
Osgin2 G T 4: 15,998,427 (GRCm39) H398Q probably damaging Het
Pepd A C 7: 34,743,218 (GRCm39) D419A probably benign Het
Pikfyve A T 1: 65,303,561 (GRCm39) S1694C probably benign Het
Polq A G 16: 36,843,173 (GRCm39) I236V probably benign Het
Prkag3 T G 1: 74,786,378 (GRCm39) Q189P probably damaging Het
Rab6b A T 9: 103,017,601 (GRCm39) T31S probably benign Het
Ralgapb C T 2: 158,268,283 (GRCm39) P129S possibly damaging Het
Ryr3 A T 2: 112,491,966 (GRCm39) L3795Q probably damaging Het
Sash1 C T 10: 8,605,169 (GRCm39) V1074M probably benign Het
Scfd2 T C 5: 74,680,235 (GRCm39) D306G probably damaging Het
Scg2 A G 1: 79,412,936 (GRCm39) Y556H probably damaging Het
Serpina3j A G 12: 104,286,093 (GRCm39) N416S probably damaging Het
Setd7 G A 3: 51,450,139 (GRCm39) Q96* probably null Het
Sf3b4 C T 3: 96,080,946 (GRCm39) R85W probably damaging Het
Sik3 T A 9: 46,120,117 (GRCm39) H735Q probably benign Het
Slain1 A C 14: 103,902,112 (GRCm39) T60P Het
Slc36a3 T C 11: 55,040,726 (GRCm39) E69G unknown Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spta1 A G 1: 174,035,880 (GRCm39) Y1062C probably damaging Het
Ssc5d C T 7: 4,940,599 (GRCm39) P904L probably benign Het
Stat5b T A 11: 100,699,276 (GRCm39) H25L possibly damaging Het
Synj2 A G 17: 6,063,794 (GRCm39) I513V probably benign Het
Tenm2 T C 11: 36,834,791 (GRCm39) E68G probably damaging Het
Thsd7a C T 6: 12,352,022 (GRCm39) G1058R Het
Traf3ip2 T A 10: 39,521,772 (GRCm39) D443E probably benign Het
Traf6 G T 2: 101,524,625 (GRCm39) C235F probably damaging Het
Treh A G 9: 44,592,416 (GRCm39) D47G probably damaging Het
Txndc16 A T 14: 45,442,799 (GRCm39) F132Y probably damaging Het
Uggt1 A T 1: 36,273,886 (GRCm39) probably null Het
Usp25 A T 16: 76,874,046 (GRCm39) I541F probably damaging Het
Zfp51 A G 17: 21,684,291 (GRCm39) E302G probably damaging Het
Zfp648 A T 1: 154,080,110 (GRCm39) T90S probably benign Het
Zfp84 A G 7: 29,476,264 (GRCm39) T319A possibly damaging Het
Zkscan17 T A 11: 59,378,037 (GRCm39) H538L probably damaging Het
Zyg11a G T 4: 108,062,376 (GRCm39) P142T probably damaging Het
Other mutations in Serpinb6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Serpinb6c APN 13 34,081,321 (GRCm39) splice site probably null
IGL01900:Serpinb6c APN 13 34,064,173 (GRCm39) missense possibly damaging 0.88
IGL01983:Serpinb6c APN 13 34,081,317 (GRCm39) splice site probably benign
IGL03357:Serpinb6c APN 13 34,079,369 (GRCm39) missense probably benign 0.08
R0208:Serpinb6c UTSW 13 34,081,379 (GRCm39) missense probably benign
R0242:Serpinb6c UTSW 13 34,083,230 (GRCm39) splice site probably benign
R0632:Serpinb6c UTSW 13 34,064,014 (GRCm39) missense possibly damaging 0.86
R0669:Serpinb6c UTSW 13 34,083,252 (GRCm39) missense probably damaging 0.98
R0848:Serpinb6c UTSW 13 34,083,288 (GRCm39) missense probably damaging 1.00
R1657:Serpinb6c UTSW 13 34,064,209 (GRCm39) missense probably benign 0.01
R3911:Serpinb6c UTSW 13 34,077,888 (GRCm39) missense probably benign 0.00
R5135:Serpinb6c UTSW 13 34,064,080 (GRCm39) missense probably damaging 1.00
R5275:Serpinb6c UTSW 13 34,077,800 (GRCm39) missense probably damaging 1.00
R5295:Serpinb6c UTSW 13 34,077,800 (GRCm39) missense probably damaging 1.00
R5700:Serpinb6c UTSW 13 34,083,291 (GRCm39) missense probably damaging 1.00
R7490:Serpinb6c UTSW 13 34,077,818 (GRCm39) missense probably benign 0.04
R7514:Serpinb6c UTSW 13 34,081,386 (GRCm39) nonsense probably null
R7517:Serpinb6c UTSW 13 34,079,278 (GRCm39) missense probably damaging 1.00
R7547:Serpinb6c UTSW 13 34,077,875 (GRCm39) missense possibly damaging 0.80
R7730:Serpinb6c UTSW 13 34,083,292 (GRCm39) missense probably damaging 1.00
R8121:Serpinb6c UTSW 13 34,064,201 (GRCm39) missense probably benign 0.38
R8142:Serpinb6c UTSW 13 34,064,096 (GRCm39) missense probably benign 0.00
R8745:Serpinb6c UTSW 13 34,064,702 (GRCm39) missense probably benign 0.06
R8855:Serpinb6c UTSW 13 34,083,309 (GRCm39) missense probably damaging 1.00
R8866:Serpinb6c UTSW 13 34,083,309 (GRCm39) missense probably damaging 1.00
R9412:Serpinb6c UTSW 13 34,081,371 (GRCm39) missense probably benign 0.00
R9643:Serpinb6c UTSW 13 34,079,303 (GRCm39) missense probably benign 0.00
X0063:Serpinb6c UTSW 13 34,064,688 (GRCm39) missense possibly damaging 0.76
Z1088:Serpinb6c UTSW 13 34,077,906 (GRCm39) missense probably benign 0.01
Z1088:Serpinb6c UTSW 13 34,077,855 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTGCATGTACGTATGTATAAGCC -3'
(R):5'- TGACAGGACCCTAGACATGG -3'

Sequencing Primer
(F):5'- GCCTATGTGATTGTTAGAAGATAACC -3'
(R):5'- GGACCCTAGACATGGAACCTTC -3'
Posted On 2022-07-18