Incidental Mutation 'IGL01582:Serpinb3d'
ID 91379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb3d
Ensembl Gene ENSMUSG00000058017
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01582
Quality Score
Status
Chromosome 1
Chromosomal Location 107005893-107011210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107007396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 197 (F197L)
Ref Sequence ENSEMBL: ENSMUSP00000023861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023861]
AlphaFold Q6UKZ0
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: 68,939,605 (GRCm39) V201I probably damaging Het
Csmd2 G T 4: 128,457,098 (GRCm39) E212* probably null Het
Dsg1a G T 18: 20,461,905 (GRCm39) K335N probably null Het
Epn2 A G 11: 61,412,695 (GRCm39) S430P probably benign Het
Ezh2 A T 6: 47,532,989 (GRCm39) Y144* probably null Het
Fcgbp G T 7: 27,793,067 (GRCm39) D1024Y probably benign Het
Gramd2b A G 18: 56,618,488 (GRCm39) E232G probably damaging Het
Inf2 A G 12: 112,576,993 (GRCm39) K989R unknown Het
Lrpprc G A 17: 85,061,971 (GRCm39) A577V probably null Het
Mansc1 T A 6: 134,598,836 (GRCm39) N27I possibly damaging Het
Nr1i3 A T 1: 171,042,541 (GRCm39) I56F possibly damaging Het
Ntpcr T C 8: 126,471,981 (GRCm39) S64P probably benign Het
Or52e19b A T 7: 103,032,806 (GRCm39) Y134* probably null Het
Ppwd1 A G 13: 104,350,212 (GRCm39) I391T probably benign Het
Siglecf A G 7: 43,008,145 (GRCm39) N553D possibly damaging Het
Slc2a2 A G 3: 28,762,637 (GRCm39) D60G probably benign Het
Speer1j A G 5: 11,555,240 (GRCm39) T70A probably benign Het
Spsb4 T G 9: 96,878,143 (GRCm39) D60A probably damaging Het
Tnnt1 T C 7: 4,512,982 (GRCm39) E100G probably damaging Het
Zmiz1 T C 14: 25,658,654 (GRCm39) M938T probably benign Het
Other mutations in Serpinb3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01917:Serpinb3d APN 1 107,007,411 (GRCm39) missense probably damaging 1.00
IGL02732:Serpinb3d APN 1 107,010,526 (GRCm39) critical splice acceptor site probably null
IGL02988:Serpinb3d UTSW 1 107,006,266 (GRCm39) missense probably benign
R0540:Serpinb3d UTSW 1 107,006,962 (GRCm39) missense probably benign 0.01
R0594:Serpinb3d UTSW 1 107,007,077 (GRCm39) missense probably damaging 1.00
R1666:Serpinb3d UTSW 1 107,008,481 (GRCm39) missense probably benign 0.18
R1668:Serpinb3d UTSW 1 107,008,481 (GRCm39) missense probably benign 0.18
R1905:Serpinb3d UTSW 1 107,007,014 (GRCm39) missense possibly damaging 0.71
R1994:Serpinb3d UTSW 1 107,008,518 (GRCm39) missense possibly damaging 0.52
R2021:Serpinb3d UTSW 1 107,006,182 (GRCm39) missense probably benign 0.05
R2022:Serpinb3d UTSW 1 107,006,182 (GRCm39) missense probably benign 0.05
R3760:Serpinb3d UTSW 1 107,009,304 (GRCm39) splice site probably benign
R4118:Serpinb3d UTSW 1 107,006,960 (GRCm39) missense possibly damaging 0.58
R4496:Serpinb3d UTSW 1 107,007,022 (GRCm39) missense probably damaging 0.98
R4770:Serpinb3d UTSW 1 107,006,008 (GRCm39) missense probably damaging 1.00
R4793:Serpinb3d UTSW 1 107,005,951 (GRCm39) missense probably damaging 1.00
R5174:Serpinb3d UTSW 1 107,006,228 (GRCm39) missense possibly damaging 0.63
R5434:Serpinb3d UTSW 1 107,006,263 (GRCm39) missense probably benign 0.02
R5813:Serpinb3d UTSW 1 107,007,027 (GRCm39) missense probably benign 0.14
R5820:Serpinb3d UTSW 1 107,006,089 (GRCm39) missense probably damaging 0.99
R5935:Serpinb3d UTSW 1 107,011,105 (GRCm39) missense probably benign 0.00
R6056:Serpinb3d UTSW 1 107,007,452 (GRCm39) missense probably damaging 1.00
R6092:Serpinb3d UTSW 1 107,006,989 (GRCm39) missense probably damaging 1.00
R6188:Serpinb3d UTSW 1 107,006,237 (GRCm39) missense probably damaging 0.98
R6247:Serpinb3d UTSW 1 107,010,490 (GRCm39) missense probably benign 0.01
R6369:Serpinb3d UTSW 1 107,008,483 (GRCm39) missense probably benign 0.00
R6476:Serpinb3d UTSW 1 107,011,071 (GRCm39) missense probably benign 0.09
R7178:Serpinb3d UTSW 1 107,008,506 (GRCm39) missense possibly damaging 0.72
R7743:Serpinb3d UTSW 1 107,007,088 (GRCm39) missense probably damaging 0.99
R7765:Serpinb3d UTSW 1 107,007,512 (GRCm39) missense probably damaging 1.00
R8371:Serpinb3d UTSW 1 107,008,469 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09