Incidental Mutation 'IGL01917:Serpinb3d'
ID 179975
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 # IGL01917
Quality Score
Status
Chromosome 1
Chromosomal Location 107005893-107011210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107007411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 192 (T192S)
Ref Sequence ENSEMBL: ENSMUSP00000023861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023861]
AlphaFold Q6UKZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000023861
AA Change: T192S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: T192S

DomainStartEndE-ValueType
SERPIN 13 387 2.44e-169 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A T 13: 23,607,959 (GRCm39) M15K unknown Het
Adal A G 2: 120,973,035 (GRCm39) S31G possibly damaging Het
C2cd5 T C 6: 143,018,322 (GRCm39) Y300C probably benign Het
Chia1 T A 3: 106,035,536 (GRCm39) V184E probably damaging Het
Fat4 T A 3: 38,943,879 (GRCm39) V924D possibly damaging Het
Fstl5 A T 3: 76,615,153 (GRCm39) H738L probably damaging Het
Gimap4 T C 6: 48,667,854 (GRCm39) M75T probably benign Het
Gm10238 A T 15: 75,109,561 (GRCm39) noncoding transcript Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gsdmc A G 15: 63,650,434 (GRCm39) Y307H probably benign Het
Iqub A G 6: 24,479,318 (GRCm39) L408P probably damaging Het
Lbx1 T A 19: 45,222,652 (GRCm39) K124* probably null Het
Naip2 C A 13: 100,298,591 (GRCm39) V482L probably benign Het
Or52e19 T A 7: 102,959,564 (GRCm39) L212* probably null Het
Pdcd11 C A 19: 47,089,604 (GRCm39) Q325K possibly damaging Het
Pik3c3 T A 18: 30,407,499 (GRCm39) S82R probably damaging Het
Pramel11 T A 4: 143,624,284 (GRCm39) E71V probably benign Het
Prickle1 T C 15: 93,401,408 (GRCm39) K359E probably damaging Het
Ptprj A G 2: 90,300,093 (GRCm39) V236A probably damaging Het
Usp31 T C 7: 121,278,708 (GRCm39) N219S probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Serpinb3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01582:Serpinb3d APN 1 107,007,396 (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 2014-05-07