Incidental Mutation 'IGL00391:Serpinb8'
ID7390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb8
Ensembl Gene ENSMUSG00000026315
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 8
SynonymsCAP2, Spi8, CAP-2, NK10, ovalbumin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00391
Quality Score
Status
Chromosome1
Chromosomal Location107590006-107610484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107606984 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 262 (S262G)
Ref Sequence ENSEMBL: ENSMUSP00000108326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000514] [ENSMUST00000112706] [ENSMUST00000123086]
Predicted Effect probably benign
Transcript: ENSMUST00000000514
AA Change: S262G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: S262G

DomainStartEndE-ValueType
SERPIN 13 374 1.69e-177 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112706
AA Change: S262G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: S262G

DomainStartEndE-ValueType
SERPIN 13 374 1.69e-177 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151283
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Serpinb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Serpinb8 APN 1 107604718 missense probably damaging 1.00
IGL03210:Serpinb8 APN 1 107602911 missense probably damaging 1.00
Hachi UTSW 1 107597471 start codon destroyed probably null 1.00
BB002:Serpinb8 UTSW 1 107598985 missense probably benign 0.25
BB012:Serpinb8 UTSW 1 107598985 missense probably benign 0.25
IGL02835:Serpinb8 UTSW 1 107602856 missense probably damaging 1.00
R0284:Serpinb8 UTSW 1 107602918 critical splice donor site probably null
R1087:Serpinb8 UTSW 1 107606997 missense probably damaging 0.99
R1728:Serpinb8 UTSW 1 107597527 missense probably benign
R1728:Serpinb8 UTSW 1 107598954 missense probably benign
R1728:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R1729:Serpinb8 UTSW 1 107597527 missense probably benign
R1729:Serpinb8 UTSW 1 107598954 missense probably benign
R1729:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R1730:Serpinb8 UTSW 1 107597527 missense probably benign
R1730:Serpinb8 UTSW 1 107598954 missense probably benign
R1730:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R1739:Serpinb8 UTSW 1 107597527 missense probably benign
R1739:Serpinb8 UTSW 1 107598954 missense probably benign
R1739:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R1762:Serpinb8 UTSW 1 107597527 missense probably benign
R1762:Serpinb8 UTSW 1 107598954 missense probably benign
R1762:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R1783:Serpinb8 UTSW 1 107597527 missense probably benign
R1783:Serpinb8 UTSW 1 107598954 missense probably benign
R1783:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R1785:Serpinb8 UTSW 1 107597527 missense probably benign
R1785:Serpinb8 UTSW 1 107598954 missense probably benign
R1785:Serpinb8 UTSW 1 107607004 missense probably benign 0.02
R2120:Serpinb8 UTSW 1 107605887 missense probably damaging 1.00
R2146:Serpinb8 UTSW 1 107605927 missense probably benign 0.11
R2148:Serpinb8 UTSW 1 107605927 missense probably benign 0.11
R2391:Serpinb8 UTSW 1 107607069 missense probably damaging 1.00
R2897:Serpinb8 UTSW 1 107607046 missense unknown
R2898:Serpinb8 UTSW 1 107607046 missense unknown
R3114:Serpinb8 UTSW 1 107607293 missense probably benign 0.09
R3697:Serpinb8 UTSW 1 107607146 nonsense probably null
R4783:Serpinb8 UTSW 1 107604742 missense probably benign 0.05
R5225:Serpinb8 UTSW 1 107597471 start codon destroyed probably null 1.00
R5412:Serpinb8 UTSW 1 107605886 missense probably benign 0.39
R5525:Serpinb8 UTSW 1 107607293 missense probably damaging 0.99
R5554:Serpinb8 UTSW 1 107598975 missense probably benign 0.01
R5891:Serpinb8 UTSW 1 107605845 missense probably damaging 0.98
R6594:Serpinb8 UTSW 1 107597471 start codon destroyed probably null 1.00
R6681:Serpinb8 UTSW 1 107597591 missense probably damaging 1.00
R7127:Serpinb8 UTSW 1 107597470 start codon destroyed probably null 1.00
R7151:Serpinb8 UTSW 1 107605797 missense probably damaging 1.00
R7300:Serpinb8 UTSW 1 107607323 makesense probably null
R7716:Serpinb8 UTSW 1 107604708 nonsense probably null
R7807:Serpinb8 UTSW 1 107604727 missense probably damaging 1.00
R7822:Serpinb8 UTSW 1 107606993 nonsense probably null
R7925:Serpinb8 UTSW 1 107598985 missense probably benign 0.25
R8210:Serpinb8 UTSW 1 107599006 missense probably damaging 1.00
X0018:Serpinb8 UTSW 1 107597597 missense probably damaging 0.99
Posted On2012-04-20