Incidental Mutation 'IGL00490:Serpinb1c'
ID277648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb1c
Ensembl Gene ENSMUSG00000079049
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 1c
Synonymsovalbumin, EIC
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL00490
Quality Score
Status
Chromosome13
Chromosomal Location32881434-32898211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32883975 bp
ZygosityHeterozygous
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]
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: 130,011,872 E837G possibly damaging Het
Atp13a3 A G 16: 30,352,354 M291T probably benign Het
Coq8b C A 7: 27,257,477 H518Q probably benign Het
Crebrf A G 17: 26,743,093 D388G probably damaging Het
Cyp2d10 A T 15: 82,403,314 S244T possibly damaging Het
Ddr2 A T 1: 170,005,194 L99H probably damaging Het
Dennd1a G T 2: 37,801,152 D251E probably damaging Het
Fam210a G T 18: 68,268,912 T210N probably damaging Het
Gigyf2 C A 1: 87,436,850 Q951K probably damaging Het
Gramd1b T A 9: 40,310,041 I280F probably damaging Het
Gsdmc3 T A 15: 63,859,677 K335N probably benign Het
Loxhd1 A T 18: 77,431,074 T993S possibly damaging Het
Mfsd6 A G 1: 52,708,254 L484P probably damaging Het
Myt1l T A 12: 29,827,424 V358E unknown Het
Mzt1 A G 14: 99,040,670 probably benign Het
Nrxn2 C A 19: 6,473,593 H514Q possibly damaging Het
Nup214 G A 2: 32,033,979 E2K probably damaging Het
Pcdhb4 G T 18: 37,309,916 G760W possibly damaging Het
Ptger2 T C 14: 45,001,741 probably benign Het
Smcr8 T A 11: 60,778,632 probably null Het
Spef2 A T 15: 9,740,535 D46E probably damaging Het
Tbc1d32 G A 10: 56,155,765 P689L probably damaging Het
Tep1 C A 14: 50,833,473 W2123L probably damaging Het
Thg1l T C 11: 45,954,221 E8G probably benign Het
Tmem236 A G 2: 14,219,378 Y326C probably damaging Het
Trip4 C T 9: 65,833,410 G573R probably damaging Het
Trrap C T 5: 144,825,225 T2320I probably benign Het
Tsnaxip1 A G 8: 105,842,184 N435S probably damaging Het
Ube3a A G 7: 59,272,110 N77D probably damaging Het
Uvrag A T 7: 98,979,741 I373N probably damaging Het
Other mutations in Serpinb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482: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
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
R7945:Serpinb1c UTSW 13 32886209 missense probably benign 0.01
R8050:Serpinb1c UTSW 13 32882069 nonsense probably null
R8155:Serpinb1c UTSW 13 32897055 missense probably damaging 1.00
Posted On2015-04-16