Incidental Mutation 'IGL01582:Serpinb3d'
ID91379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb3d
Ensembl Gene ENSMUSG00000058017
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01582
Quality Score
Status
Chromosome1
Chromosomal Location107078167-107083506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107079666 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 197 (F197L)
Ref Sequence ENSEMBL: ENSMUSP00000023861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023861]
Predicted Effect probably damaging
Transcript: ENSMUST00000023861
AA Change: F197L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: F197L

DomainStartEndE-ValueType
SERPIN 13 387 2.44e-169 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurkb G A 11: 69,048,779 V201I probably damaging Het
Csmd2 G T 4: 128,563,305 E212* probably null Het
Dsg1a G T 18: 20,328,848 K335N probably null Het
Epn2 A G 11: 61,521,869 S430P probably benign Het
Ezh2 A T 6: 47,556,055 Y144* probably null Het
Fcgbp G T 7: 28,093,642 D1024Y probably benign Het
Gm8906 A G 5: 11,505,273 T70A probably benign Het
Gramd3 A G 18: 56,485,416 E232G probably damaging Het
Inf2 A G 12: 112,610,559 K989R unknown Het
Lrpprc G A 17: 84,754,543 A577V probably null Het
Mansc1 T A 6: 134,621,873 N27I possibly damaging Het
Nr1i3 A T 1: 171,214,972 I56F possibly damaging Het
Ntpcr T C 8: 125,745,242 S64P probably benign Het
Olfr603 A T 7: 103,383,599 Y134* probably null Het
Ppwd1 A G 13: 104,213,704 I391T probably benign Het
Siglecf A G 7: 43,358,721 N553D possibly damaging Het
Slc2a2 A G 3: 28,708,488 D60G probably benign Het
Spsb4 T G 9: 96,996,090 D60A probably damaging Het
Tnnt1 T C 7: 4,509,983 E100G probably damaging Het
Zmiz1 T C 14: 25,658,230 M938T probably benign Het
Other mutations in Serpinb3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01917:Serpinb3d APN 1 107079681 missense probably damaging 1.00
IGL02732:Serpinb3d APN 1 107082796 critical splice acceptor site probably null
IGL02988:Serpinb3d UTSW 1 107078536 missense probably benign
R0540:Serpinb3d UTSW 1 107079232 missense probably benign 0.01
R0594:Serpinb3d UTSW 1 107079347 missense probably damaging 1.00
R1666:Serpinb3d UTSW 1 107080751 missense probably benign 0.18
R1668:Serpinb3d UTSW 1 107080751 missense probably benign 0.18
R1905:Serpinb3d UTSW 1 107079284 missense possibly damaging 0.71
R1994:Serpinb3d UTSW 1 107080788 missense possibly damaging 0.52
R2021:Serpinb3d UTSW 1 107078452 missense probably benign 0.05
R2022:Serpinb3d UTSW 1 107078452 missense probably benign 0.05
R3760:Serpinb3d UTSW 1 107081574 splice site probably benign
R4118:Serpinb3d UTSW 1 107079230 missense possibly damaging 0.58
R4496:Serpinb3d UTSW 1 107079292 missense probably damaging 0.98
R4770:Serpinb3d UTSW 1 107078278 missense probably damaging 1.00
R4793:Serpinb3d UTSW 1 107078221 missense probably damaging 1.00
R5174:Serpinb3d UTSW 1 107078498 missense possibly damaging 0.63
R5434:Serpinb3d UTSW 1 107078533 missense probably benign 0.02
R5813:Serpinb3d UTSW 1 107079297 missense probably benign 0.14
R5820:Serpinb3d UTSW 1 107078359 missense probably damaging 0.99
R5935:Serpinb3d UTSW 1 107083375 missense probably benign 0.00
R6056:Serpinb3d UTSW 1 107079722 missense probably damaging 1.00
R6092:Serpinb3d UTSW 1 107079259 missense probably damaging 1.00
R6188:Serpinb3d UTSW 1 107078507 missense probably damaging 0.98
R6247:Serpinb3d UTSW 1 107082760 missense probably benign 0.01
R6369:Serpinb3d UTSW 1 107080753 missense probably benign 0.00
R6476:Serpinb3d UTSW 1 107083341 missense probably benign 0.09
R7178:Serpinb3d UTSW 1 107080776 missense possibly damaging 0.72
R7743:Serpinb3d UTSW 1 107079358 missense probably damaging 0.99
R7765:Serpinb3d UTSW 1 107079782 missense probably damaging 1.00
Posted On2013-12-09