Incidental Mutation 'IGL00490:Serpinb1c'
ID 277648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb1c
Ensembl Gene ENSMUSG00000079049
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 1c
Synonyms EIC, ovalbumin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # IGL00490
Quality Score
Status
Chromosome 13
Chromosomal Location 33065417-33082194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33067958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 213 (K213E)
Ref Sequence ENSEMBL: ENSMUSP00000021834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021834] [ENSMUST00000221019]
AlphaFold Q5SV42
Predicted Effect probably damaging
Transcript: ENSMUST00000021834
AA Change: K213E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: K213E

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-167 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221019
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 129,905,665 (GRCm39) E837G possibly damaging Het
Atp13a3 A G 16: 30,171,172 (GRCm39) M291T probably benign Het
Coq8b C A 7: 26,956,902 (GRCm39) H518Q probably benign Het
Crebrf A G 17: 26,962,067 (GRCm39) D388G probably damaging Het
Cyp2d10 A T 15: 82,287,515 (GRCm39) S244T possibly damaging Het
Ddr2 A T 1: 169,832,763 (GRCm39) L99H probably damaging Het
Dennd1a G T 2: 37,691,164 (GRCm39) D251E probably damaging Het
Fam210a G T 18: 68,401,983 (GRCm39) T210N probably damaging Het
Gigyf2 C A 1: 87,364,572 (GRCm39) Q951K probably damaging Het
Gramd1b T A 9: 40,221,337 (GRCm39) I280F probably damaging Het
Gsdmc3 T A 15: 63,731,526 (GRCm39) K335N probably benign Het
Loxhd1 A T 18: 77,518,770 (GRCm39) T993S possibly damaging Het
Mfsd6 A G 1: 52,747,413 (GRCm39) L484P probably damaging Het
Myt1l T A 12: 29,877,423 (GRCm39) V358E unknown Het
Mzt1 A G 14: 99,278,106 (GRCm39) probably benign Het
Nrxn2 C A 19: 6,523,623 (GRCm39) H514Q possibly damaging Het
Nup214 G A 2: 31,923,991 (GRCm39) E2K probably damaging Het
Pcdhb4 G T 18: 37,442,969 (GRCm39) G760W possibly damaging Het
Ptger2 T C 14: 45,239,198 (GRCm39) probably benign Het
Smcr8 T A 11: 60,669,458 (GRCm39) probably null Het
Spef2 A T 15: 9,740,621 (GRCm39) D46E probably damaging Het
Tbc1d32 G A 10: 56,031,861 (GRCm39) P689L probably damaging Het
Tep1 C A 14: 51,070,930 (GRCm39) W2123L probably damaging Het
Thg1l T C 11: 45,845,048 (GRCm39) E8G probably benign Het
Tmem236 A G 2: 14,224,189 (GRCm39) Y326C probably damaging Het
Trip4 C T 9: 65,740,692 (GRCm39) G573R probably damaging Het
Trrap C T 5: 144,762,035 (GRCm39) T2320I probably benign Het
Tsnaxip1 A G 8: 106,568,816 (GRCm39) N435S probably damaging Het
Ube3a A G 7: 58,921,858 (GRCm39) N77D probably damaging Het
Uvrag A T 7: 98,628,948 (GRCm39) I373N probably damaging Het
Other mutations in Serpinb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00497:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00501:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00567:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00575:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00585:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00586:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00588:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00589:Serpinb1c APN 13 33,067,958 (GRCm39) missense probably damaging 0.99
IGL00983:Serpinb1c APN 13 33,068,207 (GRCm39) missense possibly damaging 0.52
IGL01589:Serpinb1c APN 13 33,070,155 (GRCm39) missense probably damaging 1.00
IGL03393:Serpinb1c APN 13 33,066,044 (GRCm39) missense probably damaging 1.00
R0096:Serpinb1c UTSW 13 33,070,266 (GRCm39) splice site probably benign
R0711:Serpinb1c UTSW 13 33,070,266 (GRCm39) splice site probably benign
R1222:Serpinb1c UTSW 13 33,080,934 (GRCm39) missense possibly damaging 0.53
R1301:Serpinb1c UTSW 13 33,080,943 (GRCm39) nonsense probably null
R1570:Serpinb1c UTSW 13 33,080,973 (GRCm39) missense probably benign 0.05
R1574:Serpinb1c UTSW 13 33,072,979 (GRCm39) missense possibly damaging 0.89
R1574:Serpinb1c UTSW 13 33,072,979 (GRCm39) missense possibly damaging 0.89
R1891:Serpinb1c UTSW 13 33,068,235 (GRCm39) missense probably benign 0.35
R4932:Serpinb1c UTSW 13 33,066,147 (GRCm39) missense probably damaging 1.00
R5831:Serpinb1c UTSW 13 33,081,081 (GRCm39) start codon destroyed probably null 1.00
R6010:Serpinb1c UTSW 13 33,066,042 (GRCm39) missense probably damaging 1.00
R6701:Serpinb1c UTSW 13 33,080,924 (GRCm39) missense probably benign 0.37
R7522:Serpinb1c UTSW 13 33,066,200 (GRCm39) missense probably benign 0.04
R7945:Serpinb1c UTSW 13 33,070,192 (GRCm39) missense probably benign 0.01
R8050:Serpinb1c UTSW 13 33,066,052 (GRCm39) nonsense probably null
R8155:Serpinb1c UTSW 13 33,081,038 (GRCm39) missense probably damaging 1.00
R9045:Serpinb1c UTSW 13 33,066,027 (GRCm39) missense probably benign 0.31
R9340:Serpinb1c UTSW 13 33,066,172 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16