Incidental Mutation 'IGL03269:Serpina3k'
ID415186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3k
Ensembl Gene ENSMUSG00000058207
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3K
SynonymsRP54, MMSpi2, MMCM2, alpha-1 antiproteinase, D12Rp54, contrapsin, 1300001I07Rik, Spi-2, Spi2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03269
Quality Score
Status
Chromosome12
Chromosomal Location104338486-104346144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104340521 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 4 (I4T)
Ref Sequence ENSEMBL: ENSMUSP00000042095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043058
AA Change: I4T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: I4T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 57 417 4.77e-195 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101078
SMART Domains Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 27,108,355 C930* probably null Het
Ankar A T 1: 72,665,201 V854E probably damaging Het
Ccdc151 A G 9: 21,998,043 probably null Het
Ceacam3 T A 7: 17,161,842 L579Q probably damaging Het
Clip2 G T 5: 134,516,894 H314Q probably damaging Het
Fbxo28 A G 1: 182,317,018 V327A possibly damaging Het
Gdap1 T A 1: 17,161,505 F358Y probably benign Het
Ighv1-18 T C 12: 114,682,846 Y46C probably damaging Het
Il1rl2 T A 1: 40,365,312 F531Y probably damaging Het
Irf6 A G 1: 193,162,598 probably benign Het
Ncoa6 T C 2: 155,406,489 T1632A probably damaging Het
Olfr1469 T A 19: 13,411,428 N286K probably damaging Het
Olfr723 T A 14: 49,928,708 T279S probably damaging Het
Olfr902 A G 9: 38,448,901 T10A probably benign Het
Osgepl1 C A 1: 53,321,112 Y332* probably null Het
Pibf1 G A 14: 99,187,735 A553T probably damaging Het
Prpf38b A G 3: 108,905,241 F219L probably benign Het
Pwp1 C A 10: 85,882,904 Q312K probably damaging Het
Rnf17 T C 14: 56,427,946 V185A possibly damaging Het
Slc33a1 A G 3: 63,963,757 V145A probably damaging Het
Slco3a1 T C 7: 74,318,532 D480G possibly damaging Het
Tcrg-V4 T A 13: 19,185,452 I122K probably damaging Het
Tdpoz4 G A 3: 93,796,837 C147Y probably damaging Het
Tlr4 C A 4: 66,840,796 P609T probably damaging Het
Ttc30a2 T C 2: 75,978,135 D11G possibly damaging Het
Unc79 A G 12: 103,088,677 K927E probably damaging Het
Vmn1r71 G A 7: 10,748,644 T39I possibly damaging Het
Vmn2r9 A G 5: 108,847,954 L276P probably damaging Het
Zfp335 C A 2: 164,900,354 R570L probably damaging Het
Other mutations in Serpina3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Serpina3k APN 12 104343110 missense probably benign 0.36
IGL01402:Serpina3k APN 12 104340623 missense probably benign 0.00
IGL01404:Serpina3k APN 12 104340623 missense probably benign 0.00
IGL01958:Serpina3k APN 12 104341057 missense probably damaging 1.00
IGL02031:Serpina3k APN 12 104345266 missense probably benign 0.08
IGL02055:Serpina3k APN 12 104341036 nonsense probably null
IGL02981:Serpina3k APN 12 104340991 missense probably benign 0.02
R1076:Serpina3k UTSW 12 104340994 missense probably benign 0.00
R2360:Serpina3k UTSW 12 104340907 nonsense probably null
R3816:Serpina3k UTSW 12 104340962 missense probably benign 0.08
R4577:Serpina3k UTSW 12 104344192 missense possibly damaging 0.94
R4656:Serpina3k UTSW 12 104345273 missense probably damaging 1.00
R4732:Serpina3k UTSW 12 104340860 missense probably damaging 1.00
R4733:Serpina3k UTSW 12 104340860 missense probably damaging 1.00
R4916:Serpina3k UTSW 12 104343010 missense probably damaging 1.00
R4999:Serpina3k UTSW 12 104341046 missense probably damaging 1.00
R5053:Serpina3k UTSW 12 104343214 critical splice donor site probably null
R6300:Serpina3k UTSW 12 104340722 missense probably damaging 1.00
R6343:Serpina3k UTSW 12 104345303 missense probably benign
R6851:Serpina3k UTSW 12 104345366 missense probably benign 0.00
R6858:Serpina3k UTSW 12 104345245 missense possibly damaging 0.85
R6872:Serpina3k UTSW 12 104344260 missense probably benign 0.25
R6992:Serpina3k UTSW 12 104341107 missense probably benign 0.00
R7025:Serpina3k UTSW 12 104341142 missense probably benign 0.01
R7050:Serpina3k UTSW 12 104341144 missense possibly damaging 0.96
R7238:Serpina3k UTSW 12 104343108 missense probably damaging 1.00
R7240:Serpina3k UTSW 12 104340602 missense probably benign 0.05
R7469:Serpina3k UTSW 12 104345335 missense not run
X0019:Serpina3k UTSW 12 104340575 missense probably benign 0.01
Posted On2016-08-02