Incidental Mutation 'R2655:Serpinb13'
ID 252624
Institutional Source Beutler Lab
Gene Symbol Serpinb13
Ensembl Gene ENSMUSG00000048775
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13
Synonyms HUR7, HURPIN, PI13, headpin
MMRRC Submission 040430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2655 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106908714-106928925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106928157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
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: D259G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: D259G

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
Meta Mutation Damage Score 0.3714 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T A 12: 84,122,650 (GRCm39) S411R probably benign Het
Adamts12 A T 15: 11,065,174 (GRCm39) N20Y possibly damaging Het
Bbs9 G A 9: 22,415,348 (GRCm39) E91K probably damaging Het
Casp4 C A 9: 5,322,894 (GRCm39) L57I possibly damaging Het
Cat T C 2: 103,302,191 (GRCm39) K169E probably damaging Het
Cav1 A G 6: 17,339,359 (GRCm39) Y148C probably damaging Het
Cep112 T C 11: 108,328,027 (GRCm39) probably benign Het
Chaf1b T C 16: 93,688,399 (GRCm39) S165P probably damaging Het
Crat A G 2: 30,292,703 (GRCm39) S115P probably damaging Het
Eif2b1 A G 5: 124,714,917 (GRCm39) S120P probably damaging Het
Epor A G 9: 21,872,016 (GRCm39) S236P probably damaging Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Igfbpl1 T C 4: 45,816,289 (GRCm39) T179A probably damaging Het
Ighv14-4 T G 12: 114,140,068 (GRCm39) Y114S probably damaging Het
Ipcef1 T C 10: 6,929,657 (GRCm39) I29V probably benign Het
Junb A G 8: 85,704,137 (GRCm39) S308P probably damaging Het
Kcnh5 T C 12: 75,161,314 (GRCm39) E198G probably damaging Het
Ltbp1 G A 17: 75,312,978 (GRCm39) R33H possibly damaging Het
Map3k20 C A 2: 72,263,764 (GRCm39) T471K probably damaging Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Odad4 T A 11: 100,444,405 (GRCm39) W237R probably damaging Het
Or51a10 T C 7: 103,698,638 (GRCm39) M308V probably benign Het
Or8g35 A T 9: 39,381,924 (GRCm39) S33T probably benign Het
Patj T C 4: 98,325,687 (GRCm39) V508A possibly damaging Het
Pkd1 T C 17: 24,795,464 (GRCm39) V2319A probably damaging Het
Pnpla7 A G 2: 24,942,330 (GRCm39) Y83C probably damaging Het
Prb1a G C 6: 132,187,425 (GRCm39) Q19E unknown Het
Rasa3 T C 8: 13,645,373 (GRCm39) T189A possibly damaging Het
Reck T A 4: 43,938,966 (GRCm39) D777E probably benign Het
Rfx6 A G 10: 51,569,873 (GRCm39) probably benign Het
Slit2 G A 5: 48,346,917 (GRCm39) R253Q possibly damaging Het
Slu7 A G 11: 43,331,475 (GRCm39) E203G probably benign Het
Syt4 A T 18: 31,576,597 (GRCm39) D252E probably benign Het
Tpte A G 8: 22,801,294 (GRCm39) probably null Het
Ttll7 A G 3: 146,653,376 (GRCm39) Y729C probably damaging Het
Usp35 T A 7: 96,961,354 (GRCm39) T691S probably benign Het
Vmn1r211 A G 13: 23,036,586 (GRCm39) V27A probably benign Het
Vmn2r72 T C 7: 85,400,477 (GRCm39) T191A possibly damaging Het
Vwa5b1 C T 4: 138,321,614 (GRCm39) G393D probably damaging Het
Other mutations in Serpinb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Serpinb13 APN 1 106,924,110 (GRCm39) missense probably damaging 1.00
IGL01758:Serpinb13 APN 1 106,928,484 (GRCm39) missense probably damaging 1.00
IGL02078:Serpinb13 APN 1 106,926,688 (GRCm39) missense probably damaging 0.99
IGL02183:Serpinb13 APN 1 106,926,640 (GRCm39) missense probably damaging 1.00
PIT4651001:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R0683:Serpinb13 UTSW 1 106,926,751 (GRCm39) missense probably damaging 1.00
R1263:Serpinb13 UTSW 1 106,928,466 (GRCm39) missense probably damaging 0.97
R1535:Serpinb13 UTSW 1 106,909,886 (GRCm39) start codon destroyed probably null 1.00
R1929:Serpinb13 UTSW 1 106,926,756 (GRCm39) missense possibly damaging 0.85
R2271:Serpinb13 UTSW 1 106,926,756 (GRCm39) missense possibly damaging 0.85
R3115:Serpinb13 UTSW 1 106,910,568 (GRCm39) missense probably null 0.15
R3418:Serpinb13 UTSW 1 106,926,657 (GRCm39) missense probably damaging 0.99
R3419:Serpinb13 UTSW 1 106,926,657 (GRCm39) missense probably damaging 0.99
R3883:Serpinb13 UTSW 1 106,926,302 (GRCm39) missense probably benign 0.37
R4664:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4666:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4689:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4690:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4725:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4728:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R4847:Serpinb13 UTSW 1 106,910,574 (GRCm39) missense probably damaging 1.00
R5249:Serpinb13 UTSW 1 106,926,427 (GRCm39) missense probably damaging 1.00
R5501:Serpinb13 UTSW 1 106,909,915 (GRCm39) missense possibly damaging 0.81
R5507:Serpinb13 UTSW 1 106,926,332 (GRCm39) missense probably benign 0.00
R6015:Serpinb13 UTSW 1 106,928,337 (GRCm39) missense probably benign 0.00
R6363:Serpinb13 UTSW 1 106,928,504 (GRCm39) nonsense probably null
R6720:Serpinb13 UTSW 1 106,921,792 (GRCm39) missense probably benign 0.12
R6847:Serpinb13 UTSW 1 106,926,663 (GRCm39) missense probably benign 0.24
R7237:Serpinb13 UTSW 1 106,926,679 (GRCm39) missense probably damaging 1.00
R8907:Serpinb13 UTSW 1 106,928,519 (GRCm39) missense probably damaging 1.00
R8966:Serpinb13 UTSW 1 106,928,165 (GRCm39) missense probably damaging 1.00
R9011:Serpinb13 UTSW 1 106,923,519 (GRCm39) missense probably benign 0.01
R9350:Serpinb13 UTSW 1 106,923,562 (GRCm39) nonsense probably null
R9375:Serpinb13 UTSW 1 106,909,997 (GRCm39) missense probably damaging 1.00
R9774:Serpinb13 UTSW 1 106,923,579 (GRCm39) missense probably benign 0.02
Z1177:Serpinb13 UTSW 1 106,910,033 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATGTGACTGCATGTGTTCACAC -3'
(R):5'- ATTCCTGAGTAGTCCGCATG -3'

Sequencing Primer
(F):5'- GCAGAAATGGAAATGCAGATTTTG -3'
(R):5'- TAGTCCGCATGCTCGCTGAAG -3'
Posted On 2014-12-04