Incidental Mutation 'IGL02183:Serpinb13'
ID284330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb13
Ensembl Gene ENSMUSG00000048775
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13
SynonymsHURPIN, headpin, HUR7, PI13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02183
Quality Score
Status
Chromosome1
Chromosomal Location106980984-107001195 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106998910 bp
ZygosityHeterozygous
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]
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
2010300C02Rik G A 1: 37,625,378 P480S possibly damaging Het
Ace2 T A X: 164,177,469 probably benign Het
Acsm4 A T 7: 119,693,852 probably null Het
Apcdd1 T C 18: 62,951,854 M374T probably damaging Het
Arid4b A G 13: 14,169,990 E551G possibly damaging Het
Bag4 A T 8: 25,768,030 L423Q probably damaging Het
Celf1 C T 2: 91,001,486 P96S probably damaging Het
Cry2 G A 2: 92,413,039 R486W probably damaging Het
Csn1s1 G A 5: 87,677,618 S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,740 Y1124C probably damaging Het
Cyp2j7 T C 4: 96,230,147 probably benign Het
Dock7 A T 4: 98,958,991 C1695S possibly damaging Het
Elmo3 T C 8: 105,308,323 L415P probably benign Het
Entpd5 A G 12: 84,380,380 probably benign Het
Gm7534 A G 4: 134,201,980 L338S probably benign Het
Gpatch11 T C 17: 78,842,231 probably null Het
Gprin3 C A 6: 59,353,162 R720I possibly damaging Het
Gria4 T G 9: 4,502,460 T358P probably damaging Het
Hcn2 T C 10: 79,724,813 probably null Het
Hivep3 A G 4: 120,132,024 T1891A probably benign Het
Hmgcr A G 13: 96,663,127 V153A probably damaging Het
Ifnar1 T C 16: 91,505,146 V503A possibly damaging Het
Igf2r G A 17: 12,698,516 probably benign Het
Ighg2b A G 12: 113,307,829 S35P unknown Het
Jmy T C 13: 93,499,242 D22G possibly damaging Het
Kdm5b T C 1: 134,624,931 I1215T probably benign Het
Krt84 T C 15: 101,532,356 I134V unknown Het
Magi3 T A 3: 104,085,347 M270L probably benign Het
Maneal G A 4: 124,860,416 T198I probably benign Het
Map7d3 A G X: 56,822,231 probably benign Het
Myh7 T A 14: 54,974,731 T1519S probably benign Het
Myo5a T C 9: 75,167,236 probably benign Het
Naip5 T C 13: 100,221,642 S1029G probably benign Het
Olfr1162 T C 2: 88,049,989 T212A possibly damaging Het
Olfr1205 A T 2: 88,832,028 I304F probably benign Het
Olfr125 G T 17: 37,835,413 C138F probably damaging Het
Olfr1279 T A 2: 111,306,418 V71E probably damaging Het
Olfr178 T A 16: 58,889,821 Q133L probably benign Het
Pald1 A T 10: 61,347,141 probably benign Het
Pan2 T A 10: 128,309,075 H230Q possibly damaging Het
Pcdh9 T C 14: 93,886,284 I817V probably benign Het
Piezo2 A G 18: 63,020,634 S2547P probably benign Het
Ppargc1b T A 18: 61,309,096 probably null Het
Prdm6 T C 18: 53,464,677 probably benign Het
Prr5l A T 2: 101,772,120 probably benign Het
Rab3gap2 T A 1: 185,271,468 L1020* probably null Het
Rhbdf1 T C 11: 32,210,543 H669R probably damaging Het
Rnf150 A T 8: 83,003,605 I255F probably damaging Het
Rnf17 T A 14: 56,507,868 D1360E probably null Het
Sag T C 1: 87,828,475 probably null Het
Scn2a C T 2: 65,671,603 T90I probably benign Het
Scn9a T A 2: 66,484,611 probably benign Het
Slc39a14 C T 14: 70,306,685 G484E possibly damaging Het
Slco1a1 A T 6: 141,921,943 probably benign Het
Slitrk3 A T 3: 73,049,979 Y487N probably damaging Het
Stkld1 T C 2: 26,946,659 M279T probably benign Het
Tmem161b T C 13: 84,272,254 Y125H probably damaging Het
Tmem71 A G 15: 66,555,025 probably benign Het
Ubxn7 T C 16: 32,369,383 F142L probably damaging Het
Vmn2r22 A G 6: 123,638,004 L209P probably damaging Het
Wdr73 A T 7: 80,893,760 W136R probably damaging Het
Wif1 C T 10: 121,075,276 R107C probably damaging Het
Ythdf2 G T 4: 132,205,574 L92M probably benign Het
Zfp53 T A 17: 21,500,250 I34N possibly damaging Het
Other mutations in Serpinb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Serpinb13 APN 1 106996380 missense probably damaging 1.00
IGL01758:Serpinb13 APN 1 107000754 missense probably damaging 1.00
IGL02078:Serpinb13 APN 1 106998958 missense probably damaging 0.99
PIT4651001:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R0683:Serpinb13 UTSW 1 106999021 missense probably damaging 1.00
R1263:Serpinb13 UTSW 1 107000736 missense probably damaging 0.97
R1535:Serpinb13 UTSW 1 106982156 start codon destroyed probably null 1.00
R1929:Serpinb13 UTSW 1 106999026 missense possibly damaging 0.85
R2271:Serpinb13 UTSW 1 106999026 missense possibly damaging 0.85
R2655:Serpinb13 UTSW 1 107000427 missense probably damaging 0.99
R3115:Serpinb13 UTSW 1 106982838 missense probably null 0.15
R3418:Serpinb13 UTSW 1 106998927 missense probably damaging 0.99
R3419:Serpinb13 UTSW 1 106998927 missense probably damaging 0.99
R3883:Serpinb13 UTSW 1 106998572 missense probably benign 0.37
R4664:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R4666:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R4689:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R4690:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R4725:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R4728:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R4847:Serpinb13 UTSW 1 106982844 missense probably damaging 1.00
R5249:Serpinb13 UTSW 1 106998697 missense probably damaging 1.00
R5501:Serpinb13 UTSW 1 106982185 missense possibly damaging 0.81
R5507:Serpinb13 UTSW 1 106998602 missense probably benign 0.00
R6015:Serpinb13 UTSW 1 107000607 missense probably benign 0.00
R6363:Serpinb13 UTSW 1 107000774 nonsense probably null
R6720:Serpinb13 UTSW 1 106994062 missense probably benign 0.12
R6847:Serpinb13 UTSW 1 106998933 missense probably benign 0.24
R7237:Serpinb13 UTSW 1 106998949 missense probably damaging 1.00
Z1177:Serpinb13 UTSW 1 106982303 missense possibly damaging 0.95
Posted On2015-04-16