Incidental Mutation 'IGL00983:Serpinb1c'
ID28904
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: 0.139) question?
Stock #IGL00983
Quality Score
Status
Chromosome13
Chromosomal Location32881434-32898211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32884224 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 188 (S188R)
Ref Sequence ENSEMBL: ENSMUSP00000021834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021834] [ENSMUST00000221019]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021834
AA Change: S188R

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: S188R

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-167 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000126501
AA Change: S188R

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117305
Gene: ENSMUSG00000079049
AA Change: S188R

DomainStartEndE-ValueType
SERPIN 13 201 3.7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221019
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,880,612 Q307* probably null Het
Acss3 A T 10: 106,966,964 C473* probably null Het
Adgrg1 T A 8: 95,005,243 S178T probably damaging Het
Anxa7 C A 14: 20,458,681 L386F possibly damaging Het
Calcrl T C 2: 84,370,454 E82G probably benign Het
Ccr9 C T 9: 123,779,286 P11L probably benign Het
Cep164 C A 9: 45,775,256 V887L possibly damaging Het
Dctn6 A G 8: 34,092,593 L136P probably damaging Het
Dnase1 T C 16: 4,039,553 V238A possibly damaging Het
Fat1 A G 8: 45,033,390 Y3304C probably damaging Het
Fbxo31 A T 8: 121,554,330 V359D possibly damaging Het
Gpr182 A G 10: 127,750,788 I98T possibly damaging Het
Gspt1 C T 16: 11,230,997 probably benign Het
Itgam C A 7: 128,068,667 T70K probably damaging Het
Itpr2 A G 6: 146,310,981 probably benign Het
Kank3 T A 17: 33,821,817 M458K probably damaging Het
Kcnd2 A G 6: 21,714,154 K379E possibly damaging Het
Macf1 C T 4: 123,382,122 V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 L3397S probably damaging Het
Msh3 A T 13: 92,300,277 N508K probably damaging Het
Mttp C A 3: 138,115,129 probably benign Het
Nme5 G T 18: 34,567,128 Q155K probably benign Het
Olfr1341 A T 4: 118,709,922 N172Y probably damaging Het
Olfr458 A T 6: 42,460,095 I308N probably benign Het
Olfr548-ps1 T A 7: 102,542,386 I150N possibly damaging Het
Pfkp A T 13: 6,581,567 W151R probably damaging Het
Pkd1l1 T A 11: 8,844,585 T1859S probably benign Het
Pmvk T C 3: 89,467,583 W96R probably damaging Het
Prdx6b T A 2: 80,293,195 M116K probably damaging Het
Ptpro A C 6: 137,418,248 L876F probably benign Het
Sdcbp G T 4: 6,392,953 E197* probably null Het
Sorcs1 A T 19: 50,176,128 D988E probably damaging Het
Tmbim1 C A 1: 74,295,263 G46V probably damaging Het
Ubl4b C T 3: 107,554,440 G168E unknown Het
Vmn2r91 T C 17: 18,105,558 F146S probably benign Het
Zdhhc20 T C 14: 57,839,156 N335D possibly damaging Het
Zzz3 T G 3: 152,455,810 probably benign 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
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
R8050:Serpinb1c UTSW 13 32882069 nonsense probably null
R8155:Serpinb1c UTSW 13 32897055 missense probably damaging 1.00
Posted On2013-04-17