Incidental Mutation 'IGL01900:Serpinb6c'
ID 179494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb6c
Ensembl Gene ENSMUSG00000052180
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6c
Synonyms Spi3C, SPIC, ovalbumin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01900
Quality Score
Status
Chromosome 13
Chromosomal Location 33879816-33905708 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33880190 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 294 (M294K)
Ref Sequence ENSEMBL: ENSMUSP00000127619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110273] [ENSMUST00000172184]
AlphaFold W4VSP4
Predicted Effect possibly damaging
Transcript: ENSMUST00000110273
AA Change: M294K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: M294K

DomainStartEndE-ValueType
SERPIN 13 378 7.5e-170 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172184
AA Change: M294K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: M294K

DomainStartEndE-ValueType
SERPIN 14 379 7.5e-170 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A T 7: 139,972,570 V274E probably damaging Het
Aoc2 T C 11: 101,328,823 Y627H probably damaging Het
Car14 T C 3: 95,901,221 D27G probably benign Het
Col6a3 A G 1: 90,795,010 probably null Het
Ddx60 T C 8: 62,000,709 probably benign Het
Dhrs4 A G 14: 55,488,197 E236G probably benign Het
Fpr1 T A 17: 17,877,521 T69S probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hmcn1 A T 1: 150,742,260 probably benign Het
Hook2 T C 8: 85,001,311 probably benign Het
Krt6b C T 15: 101,677,546 R364H possibly damaging Het
Myh2 T A 11: 67,183,783 I720N probably benign Het
Olfr669 A G 7: 104,939,162 D212G probably damaging Het
Optc A G 1: 133,902,129 V181A possibly damaging Het
Ptprn A G 1: 75,252,248 probably benign Het
Rnf213 A G 11: 119,443,015 T3018A probably benign Het
Rps27l T A 9: 66,946,943 probably benign Het
Tekt2 G T 4: 126,324,628 T83K probably benign Het
Vmn2r62 T A 7: 42,789,071 N114Y probably benign Het
Other mutations in Serpinb6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Serpinb6c APN 13 33897338 splice site probably null
IGL01983:Serpinb6c APN 13 33897334 splice site probably benign
IGL03357:Serpinb6c APN 13 33895386 missense probably benign 0.08
R0208:Serpinb6c UTSW 13 33897396 missense probably benign
R0242:Serpinb6c UTSW 13 33899247 splice site probably benign
R0632:Serpinb6c UTSW 13 33880031 missense possibly damaging 0.86
R0669:Serpinb6c UTSW 13 33899269 missense probably damaging 0.98
R0848:Serpinb6c UTSW 13 33899305 missense probably damaging 1.00
R1657:Serpinb6c UTSW 13 33880226 missense probably benign 0.01
R3911:Serpinb6c UTSW 13 33893905 missense probably benign 0.00
R5135:Serpinb6c UTSW 13 33880097 missense probably damaging 1.00
R5275:Serpinb6c UTSW 13 33893817 missense probably damaging 1.00
R5295:Serpinb6c UTSW 13 33893817 missense probably damaging 1.00
R5700:Serpinb6c UTSW 13 33899308 missense probably damaging 1.00
R7490:Serpinb6c UTSW 13 33893835 missense probably benign 0.04
R7514:Serpinb6c UTSW 13 33897403 nonsense probably null
R7517:Serpinb6c UTSW 13 33895295 missense probably damaging 1.00
R7547:Serpinb6c UTSW 13 33893892 missense possibly damaging 0.80
R7730:Serpinb6c UTSW 13 33899309 missense probably damaging 1.00
R8121:Serpinb6c UTSW 13 33880218 missense probably benign 0.38
R8142:Serpinb6c UTSW 13 33880113 missense probably benign 0.00
R8745:Serpinb6c UTSW 13 33880719 missense probably benign 0.06
R8855:Serpinb6c UTSW 13 33899326 missense probably damaging 1.00
R8866:Serpinb6c UTSW 13 33899326 missense probably damaging 1.00
R9412:Serpinb6c UTSW 13 33897388 missense probably benign 0.00
X0063:Serpinb6c UTSW 13 33880705 missense possibly damaging 0.76
Z1088:Serpinb6c UTSW 13 33893872 missense probably damaging 1.00
Z1088:Serpinb6c UTSW 13 33893923 missense probably benign 0.01
Posted On 2014-05-07