Incidental Mutation 'IGL01758:Serpinb13'
ID 153462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb13
Ensembl Gene ENSMUSG00000048775
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13
Synonyms HURPIN, headpin, HUR7, PI13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01758
Quality Score
Status
Chromosome 1
Chromosomal Location 106980984-107001195 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107000754 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 368 (F368C)
Ref Sequence ENSEMBL: ENSMUSP00000027564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027564] [ENSMUST00000136766]
AlphaFold Q8CDC0
Predicted Effect probably damaging
Transcript: ENSMUST00000027564
AA Change: F368C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: F368C

DomainStartEndE-ValueType
SERPIN 13 389 1.55e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136766
SMART Domains Protein: ENSMUSP00000118572
Gene: ENSMUSG00000048775

DomainStartEndE-ValueType
Pfam:Serpin 6 94 1.1e-16 PFAM
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 serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,010,819 (GRCm38) D860G possibly damaging Het
Acot7 T C 4: 152,217,793 (GRCm38) C121R probably damaging Het
Adam19 A T 11: 46,112,924 (GRCm38) H193L probably benign Het
AI661453 T A 17: 47,466,623 (GRCm38) probably benign Het
Bod1l T C 5: 41,826,610 (GRCm38) probably benign Het
Brd4 T C 17: 32,212,829 (GRCm38) probably benign Het
Capn12 G A 7: 28,886,623 (GRCm38) probably null Het
Cdh18 A G 15: 23,474,183 (GRCm38) Q713R probably benign Het
Cfap52 A T 11: 67,953,580 (GRCm38) L103Q possibly damaging Het
Dpy19l4 T A 4: 11,265,846 (GRCm38) T475S probably damaging Het
Fat2 A T 11: 55,296,209 (GRCm38) D1270E probably damaging Het
Hfm1 T C 5: 106,904,793 (GRCm38) K275E probably damaging Het
Ift172 T C 5: 31,280,714 (GRCm38) D426G probably benign Het
Mrc1 T C 2: 14,238,248 (GRCm38) S62P probably damaging Het
Olfr275 G T 4: 52,825,468 (GRCm38) E24* probably null Het
Olfr914 T A 9: 38,607,293 (GRCm38) I276K probably damaging Het
Ptgs2 A T 1: 150,101,989 (GRCm38) probably null Het
Rxfp1 T A 3: 79,652,216 (GRCm38) I433F possibly damaging Het
Sbf1 C T 15: 89,303,215 (GRCm38) probably benign Het
Slc9c1 T A 16: 45,541,461 (GRCm38) S80R probably damaging Het
Spats2l G T 1: 57,879,556 (GRCm38) V30L probably damaging Het
Stat1 A G 1: 52,136,921 (GRCm38) E195G probably damaging Het
Tbx5 T A 5: 119,844,958 (GRCm38) probably benign Het
Tmem165 A G 5: 76,204,163 (GRCm38) T164A probably damaging Het
Trim66 A T 7: 109,486,045 (GRCm38) probably null Het
Trip10 T A 17: 57,261,409 (GRCm38) V405E possibly damaging Het
Vmn2r92 T A 17: 18,152,013 (GRCm38) C28* probably null Het
Wdr60 G A 12: 116,218,798 (GRCm38) P728L possibly damaging Het
Zbtb8a C T 4: 129,357,847 (GRCm38) C277Y probably damaging Het
Zfp638 T C 6: 83,979,526 (GRCm38) F1705S probably damaging Het
Other mutations in Serpinb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Serpinb13 APN 1 106,996,380 (GRCm38) missense probably damaging 1.00
IGL02078:Serpinb13 APN 1 106,998,958 (GRCm38) missense probably damaging 0.99
IGL02183:Serpinb13 APN 1 106,998,910 (GRCm38) missense probably damaging 1.00
PIT4651001:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R0683:Serpinb13 UTSW 1 106,999,021 (GRCm38) missense probably damaging 1.00
R1263:Serpinb13 UTSW 1 107,000,736 (GRCm38) missense probably damaging 0.97
R1535:Serpinb13 UTSW 1 106,982,156 (GRCm38) start codon destroyed probably null 1.00
R1929:Serpinb13 UTSW 1 106,999,026 (GRCm38) missense possibly damaging 0.85
R2271:Serpinb13 UTSW 1 106,999,026 (GRCm38) missense possibly damaging 0.85
R2655:Serpinb13 UTSW 1 107,000,427 (GRCm38) missense probably damaging 0.99
R3115:Serpinb13 UTSW 1 106,982,838 (GRCm38) missense probably null 0.15
R3418:Serpinb13 UTSW 1 106,998,927 (GRCm38) missense probably damaging 0.99
R3419:Serpinb13 UTSW 1 106,998,927 (GRCm38) missense probably damaging 0.99
R3883:Serpinb13 UTSW 1 106,998,572 (GRCm38) missense probably benign 0.37
R4664:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R4666:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R4689:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R4690:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R4725:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R4728:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R4847:Serpinb13 UTSW 1 106,982,844 (GRCm38) missense probably damaging 1.00
R5249:Serpinb13 UTSW 1 106,998,697 (GRCm38) missense probably damaging 1.00
R5501:Serpinb13 UTSW 1 106,982,185 (GRCm38) missense possibly damaging 0.81
R5507:Serpinb13 UTSW 1 106,998,602 (GRCm38) missense probably benign 0.00
R6015:Serpinb13 UTSW 1 107,000,607 (GRCm38) missense probably benign 0.00
R6363:Serpinb13 UTSW 1 107,000,774 (GRCm38) nonsense probably null
R6720:Serpinb13 UTSW 1 106,994,062 (GRCm38) missense probably benign 0.12
R6847:Serpinb13 UTSW 1 106,998,933 (GRCm38) missense probably benign 0.24
R7237:Serpinb13 UTSW 1 106,998,949 (GRCm38) missense probably damaging 1.00
R8907:Serpinb13 UTSW 1 107,000,789 (GRCm38) missense probably damaging 1.00
R8966:Serpinb13 UTSW 1 107,000,435 (GRCm38) missense probably damaging 1.00
R9011:Serpinb13 UTSW 1 106,995,789 (GRCm38) missense probably benign 0.01
R9350:Serpinb13 UTSW 1 106,995,832 (GRCm38) nonsense probably null
R9375:Serpinb13 UTSW 1 106,982,267 (GRCm38) missense probably damaging 1.00
R9774:Serpinb13 UTSW 1 106,995,849 (GRCm38) missense probably benign 0.02
Z1177:Serpinb13 UTSW 1 106,982,303 (GRCm38) missense possibly damaging 0.95
Posted On 2014-02-04