Incidental Mutation 'IGL02730:Serpina3a'
ID305398
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 #IGL02730
Quality Score
Status
Chromosome12
Chromosomal Location104112724-104121896 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104119663 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 126 (F126L)
Ref Sequence ENSEMBL: ENSMUSP00000105591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021496
AA Change: F316L

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: F316L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109965
AA Change: F126L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: F126L

DomainStartEndE-ValueType
SERPIN 4 229 5.39e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185595
AA Change: F316L

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: F316L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,166,149 probably benign Het
Ankib1 A T 5: 3,702,995 V651E probably damaging Het
BC051665 G A 13: 60,785,012 probably benign Het
Ces1d C T 8: 93,186,016 G265S probably benign Het
Dsg1c A C 18: 20,274,830 D411A probably damaging Het
Exosc5 T C 7: 25,663,197 I70T possibly damaging Het
Fgf20 T A 8: 40,279,787 L203F probably damaging Het
Gm14025 T C 2: 129,038,726 T427A possibly damaging Het
Gpsm1 T A 2: 26,325,378 V316E probably benign Het
Gtpbp1 T A 15: 79,719,171 D620E probably benign Het
Hs6st1 A G 1: 36,103,628 T215A probably damaging Het
Irgm2 T A 11: 58,219,990 M169K probably benign Het
Kcns3 A G 12: 11,092,075 S208P probably benign Het
Klra6 T C 6: 130,022,697 T103A probably benign Het
Lrba T A 3: 86,328,199 M870K probably damaging Het
Mapk1ip1l C T 14: 47,310,920 T175I possibly damaging Het
Meig1 A G 2: 3,411,910 Y25H probably damaging Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4b T C 7: 10,714,758 F296S probably damaging Het
Olfr1040 C T 2: 86,146,099 V212M probably benign Het
Olfr109 T A 17: 37,466,859 Y218N probably damaging Het
Olfr1138 T A 2: 87,737,641 I228F probably damaging Het
Olfr1336 T C 7: 6,461,124 I205T possibly damaging Het
Olfr149 C T 9: 39,702,238 C177Y probably damaging Het
Olfr164 T A 16: 19,286,682 L20F probably benign Het
Olfr281 A G 15: 98,456,436 N42S probably damaging Het
Olfr293 T C 7: 86,664,067 L135P probably damaging Het
Pds5b A G 5: 150,780,752 probably benign Het
Plekhg1 A G 10: 3,873,242 D70G possibly damaging Het
Rubcnl C T 14: 75,050,148 T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 H317Y probably benign Het
Sec22a T C 16: 35,314,100 D282G probably damaging Het
Serpinc1 A G 1: 161,000,028 D399G probably damaging Het
Sorcs2 A G 5: 36,062,552 Y383H probably benign Het
Speer3 T A 5: 13,793,271 M64K probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stx1b C A 7: 127,815,377 R25L probably benign Het
Syt5 A G 7: 4,542,357 V181A probably damaging Het
Tspoap1 G T 11: 87,781,709 V1788F probably damaging Het
Vmn1r233 A G 17: 20,993,795 S298P possibly damaging Het
Xntrpc T C 7: 102,082,112 S353P probably damaging Het
Other mutations in Serpina3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Serpina3a APN 12 104121499 missense probably benign 0.05
IGL02003:Serpina3a APN 12 104116000 missense probably benign 0.02
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
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 On2015-04-16