Incidental Mutation 'IGL02183:Serpinb13'
ID 284330
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 HUR7, HURPIN, PI13, headpin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02183
Quality Score
Status
Chromosome 1
Chromosomal Location 106908714-106928925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106926640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 212 (M212T)
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: M212T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: M212T

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S probably benign 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
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
R2655:Serpinb13 UTSW 1 106,928,157 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16