Incidental Mutation 'R1574:Serpinb1c'
ID171048
Institutional Source Beutler Lab
Gene Symbol Serpinb1c
Ensembl Gene ENSMUSG00000079049
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 1c
Synonymsovalbumin, EIC
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #R1574 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location32881434-32898211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32888996 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 61 (D61G)
Ref Sequence ENSEMBL: ENSMUSP00000021834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021834] [ENSMUST00000221019]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021834
AA Change: D61G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: D61G

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-167 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000126501
AA Change: D61G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117305
Gene: ENSMUSG00000079049
AA Change: D61G

DomainStartEndE-ValueType
SERPIN 13 201 3.7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221019
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 96.3%
  • 10x: 84.0%
  • 20x: 52.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,787,449 N1276K probably damaging Het
Als2cl A G 9: 110,884,060 E6G probably damaging Het
Ankrd12 A T 17: 65,986,274 D721E probably benign Het
Anpep A G 7: 79,838,407 probably null Het
Apob A T 12: 7,990,839 I655L possibly damaging Het
Atp2b1 T A 10: 98,996,948 L437Q probably damaging Het
Cacna2d3 T A 14: 29,351,822 R222S probably damaging Het
Cenpf C T 1: 189,652,713 D2457N probably damaging Het
Cenpo A T 12: 4,215,433 probably null Het
Ces2b G T 8: 104,835,889 A284S probably benign Het
Clock T C 5: 76,242,832 D311G probably damaging Het
Csmd3 T C 15: 47,695,861 probably null Het
D430041D05Rik GTGATGATGATGATGATGATG GTGATGATGATGATGATG 2: 104,221,208 probably benign Het
Dbil5 A G 11: 76,218,482 M71V probably benign Het
Ddhd1 A C 14: 45,595,547 L864R probably damaging Het
Dnah11 A G 12: 118,060,317 C1900R probably damaging Het
Dnah2 A G 11: 69,514,688 V666A probably benign Het
Dnah5 T A 15: 28,252,423 M754K probably benign Het
Dnajc15 A T 14: 77,826,414 S145T probably benign Het
Drap1 A G 19: 5,424,257 F25S probably damaging Het
Fam83e G A 7: 45,726,711 E283K probably damaging Het
Fbxo48 G T 11: 16,953,368 probably benign Het
Fndc3a A T 14: 72,556,557 I892N probably damaging Het
Gcn1l1 A G 5: 115,615,552 T2321A probably benign Het
Greb1l A G 18: 10,554,997 D1681G possibly damaging Het
Hmcn2 A C 2: 31,404,887 T2563P probably damaging Het
Iqcd A T 5: 120,600,235 K39N probably damaging Het
Kank2 A G 9: 21,774,575 S668P probably damaging Het
Kcng1 T A 2: 168,269,041 N68Y probably damaging Het
Kmt5b T A 19: 3,786,633 probably null Het
Lama2 T A 10: 27,324,754 I533F possibly damaging Het
Lcmt1 T A 7: 123,402,908 I132N probably damaging Het
Mcph1 T C 8: 18,801,412 I807T probably damaging Het
Mdn1 A G 4: 32,722,315 I2366V probably benign Het
Moxd1 T C 10: 24,300,319 W558R probably damaging Het
Mtus2 A C 5: 148,076,552 K52Q probably benign Het
Myrf T C 19: 10,225,487 D141G probably damaging Het
Naca G T 10: 128,040,398 probably benign Het
Ncoa7 T C 10: 30,694,101 I249M probably damaging Het
Obox5 T C 7: 15,758,633 V171A probably damaging Het
Olfr1341 T A 4: 118,709,554 I49N probably damaging Het
Olfr1352 C A 10: 78,983,986 N32K probably damaging Het
Olfr15 T C 16: 3,839,657 I228T probably damaging Het
Olfr70 A T 4: 43,697,134 V13D possibly damaging Het
Olfr818 A G 10: 129,945,510 L69P probably damaging Het
Olfr988 A T 2: 85,353,899 V9E probably damaging Het
Parp4 A G 14: 56,602,295 T487A probably damaging Het
Pclo A G 5: 14,679,831 probably benign Het
Pcnx2 G A 8: 125,773,930 R1474C probably damaging Het
Pkd1l3 A G 8: 109,614,813 I99M unknown Het
Ruvbl1 T C 6: 88,479,154 V70A probably damaging Het
Sart1 G A 19: 5,380,259 P788L probably damaging Het
Sdk1 A G 5: 141,998,879 T740A probably benign Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Slc24a5 G A 2: 125,080,862 G152S probably damaging Het
Slc6a4 A T 11: 77,019,196 I426F possibly damaging Het
Srsf4 T A 4: 131,897,695 D134E probably damaging Het
Stk33 C T 7: 109,279,820 V441I probably benign Het
Sult1c2 A G 17: 53,836,899 probably null Het
Tdpoz4 T A 3: 93,796,528 V44E probably benign Het
Tdrd6 G A 17: 43,625,624 S1511L probably damaging Het
Tmprss13 C A 9: 45,343,231 T432K probably damaging Het
Traf7 A G 17: 24,510,553 L428P probably damaging Het
Tubb1 T C 2: 174,457,422 I299T probably benign Het
Vmn1r158 A T 7: 22,790,347 W146R probably damaging Het
Vmn1r42 A G 6: 89,845,077 I170T possibly damaging Het
Vmn1r42 C T 6: 89,845,381 G69S probably damaging Het
Vmn2r116 A T 17: 23,387,089 H325L probably damaging Het
Zfp516 T A 18: 82,993,175 L1111H possibly damaging Het
Zfp61 C G 7: 24,291,210 K505N probably damaging Het
Zfp653 C A 9: 22,057,978 E331* probably null Het
Zfp949 A T 9: 88,569,777 K467* probably null Het
Other mutations in Serpinb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00490:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00497:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00501:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00567:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00575:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00585:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00586:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00588:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00589:Serpinb1c APN 13 32883975 missense probably damaging 0.99
IGL00983:Serpinb1c APN 13 32884224 missense possibly damaging 0.52
IGL01589:Serpinb1c APN 13 32886172 missense probably damaging 1.00
IGL03393:Serpinb1c APN 13 32882061 missense probably damaging 1.00
R0096:Serpinb1c UTSW 13 32886283 splice site probably benign
R0711:Serpinb1c UTSW 13 32886283 splice site probably benign
R1222:Serpinb1c UTSW 13 32896951 missense possibly damaging 0.53
R1301:Serpinb1c UTSW 13 32896960 nonsense probably null
R1570:Serpinb1c UTSW 13 32896990 missense probably benign 0.05
R1574:Serpinb1c UTSW 13 32888996 missense possibly damaging 0.89
R1891:Serpinb1c UTSW 13 32884252 missense probably benign 0.35
R4932:Serpinb1c UTSW 13 32882164 missense probably damaging 1.00
R5831:Serpinb1c UTSW 13 32897098 start codon destroyed probably null 1.00
R6010:Serpinb1c UTSW 13 32882059 missense probably damaging 1.00
R6701:Serpinb1c UTSW 13 32896941 missense probably benign 0.37
R7522:Serpinb1c UTSW 13 32882217 missense probably benign 0.04
R8050:Serpinb1c UTSW 13 32882069 nonsense probably null
R8155:Serpinb1c UTSW 13 32897055 missense probably damaging 1.00
Predicted Primers
Posted On2014-04-13