Incidental Mutation 'IGL02003:Serpina3a'
ID182177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3a
Ensembl Gene ENSMUSG00000041536
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3A
Synonyms4933406L18Rik, antitrypsin, alpha-1 antiproteinase,
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02003
Quality Score
Status
Chromosome12
Chromosomal Location104112724-104121896 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104116000 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 11 (M11V)
Ref Sequence ENSEMBL: ENSMUSP00000140024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]
Predicted Effect probably benign
Transcript: ENSMUST00000021496
AA Change: M11V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109965
SMART Domains Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536

DomainStartEndE-ValueType
SERPIN 4 229 5.39e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185595
AA Change: M11V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,498,958 noncoding transcript Het
Adam1b G A 5: 121,501,291 L564F probably damaging Het
Alms1 C T 6: 85,622,223 P1344S possibly damaging Het
Cnnm2 G T 19: 46,868,559 G699W probably damaging Het
Crybg2 A G 4: 134,072,456 K309R probably benign Het
Csnk2a1 C T 2: 152,276,970 R333* probably null Het
Eif3m C T 2: 105,012,843 probably benign Het
Fgfr2 T C 7: 130,219,072 D244G probably damaging Het
H2-Q10 A G 17: 35,470,441 I47V probably benign Het
Hmcn2 C T 2: 31,428,982 T3898I possibly damaging Het
Isyna1 G A 8: 70,596,757 V440M possibly damaging Het
Itpr3 A G 17: 27,121,475 K2654E probably damaging Het
Lrrd1 C T 5: 3,849,857 T54I probably damaging Het
Lrrk2 G A 15: 91,731,491 V843M probably damaging Het
Morc2b A T 17: 33,138,324 V158D probably benign Het
Mroh7 T C 4: 106,702,529 T734A probably damaging Het
Mylk3 T C 8: 85,359,098 D136G probably benign Het
Nos1 T C 5: 117,905,465 S602P probably damaging Het
Nsmaf T C 4: 6,418,522 I428V probably benign Het
Nup93 T G 8: 94,302,109 Y323* probably null Het
Olfr203 G A 16: 59,303,633 G161D probably damaging Het
Olfr836 A T 9: 19,121,065 M34L probably benign Het
Olfr914 C T 9: 38,606,840 A125V probably damaging Het
Ppm1m C A 9: 106,199,157 G13W probably damaging Het
Prok1 T G 3: 107,235,663 H75P probably damaging Het
Ptprb A T 10: 116,367,505 I1774F probably damaging Het
Rasl10b A T 11: 83,417,853 E73V probably damaging Het
Rhbdl3 A G 11: 80,337,516 T271A possibly damaging Het
Setdb2 T C 14: 59,413,490 E464G probably damaging Het
Slc8a1 A G 17: 81,428,196 I749T possibly damaging Het
Slco6d1 T A 1: 98,480,768 I463N probably damaging Het
Sncb A T 13: 54,762,930 V51E probably damaging Het
Stk32c A G 7: 139,188,153 S71P possibly damaging Het
Tet1 A G 10: 62,816,400 V1613A possibly damaging Het
Vmn2r91 T A 17: 18,107,659 I505K probably benign Het
Zfp110 A T 7: 12,849,905 K827* probably null Het
Zfp438 A T 18: 5,214,503 C152S probably benign Het
Other mutations in Serpina3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Serpina3a APN 12 104121499 missense probably benign 0.05
IGL02379:Serpina3a APN 12 104118660 missense probably benign 0.00
IGL02547:Serpina3a APN 12 104116543 missense probably damaging 0.98
IGL02593:Serpina3a APN 12 104118432 missense probably benign 0.01
IGL02730:Serpina3a APN 12 104119663 missense probably damaging 1.00
IGL02953:Serpina3a APN 12 104116489 missense probably benign 0.00
IGL03197:Serpina3a APN 12 104116241 missense probably damaging 1.00
R1184:Serpina3a UTSW 12 104116528 nonsense probably null
R1635:Serpina3a UTSW 12 104116478 missense probably damaging 1.00
R1688:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R1804:Serpina3a UTSW 12 104118416 splice site probably benign
R1867:Serpina3a UTSW 12 104118627 missense probably benign 0.01
R1888:Serpina3a UTSW 12 104116103 missense probably benign 0.16
R1888:Serpina3a UTSW 12 104116103 missense probably benign 0.16
R2110:Serpina3a UTSW 12 104116222 missense probably damaging 0.97
R2111:Serpina3a UTSW 12 104116222 missense probably damaging 0.97
R2305:Serpina3a UTSW 12 104116528 missense probably benign 0.05
R2326:Serpina3a UTSW 12 104116499 missense probably benign 0.01
R2405:Serpina3a UTSW 12 104121318 missense possibly damaging 0.50
R4008:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R4010:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R4011:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R4079:Serpina3a UTSW 12 104119675 nonsense probably null
R4091:Serpina3a UTSW 12 104116366 missense probably benign 0.01
R4092:Serpina3a UTSW 12 104116366 missense probably benign 0.01
R4210:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R5064:Serpina3a UTSW 12 104116189 missense probably benign 0.01
R6242:Serpina3a UTSW 12 104116001 missense probably benign 0.10
R6337:Serpina3a UTSW 12 104112878 missense probably benign 0.36
R6395:Serpina3a UTSW 12 104116451 missense probably damaging 0.99
R6683:Serpina3a UTSW 12 104119637 missense probably benign 0.16
R6994:Serpina3a UTSW 12 104112830 splice site probably null
R7117:Serpina3a UTSW 12 104116177 missense possibly damaging 0.95
R8104:Serpina3a UTSW 12 104112851 start gained probably benign
R8131:Serpina3a UTSW 12 104116208 missense probably damaging 1.00
Posted On2014-05-07