Incidental Mutation 'IGL03197:Serpina3a'
ID412844
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: 0.051) question?
Stock #IGL03197
Quality Score
Status
Chromosome12
Chromosomal Location104112724-104121896 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104116241 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 91 (A91V)
Ref Sequence ENSEMBL: ENSMUSP00000140024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]
Predicted Effect probably damaging
Transcript: ENSMUST00000021496
AA Change: A91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: A91V

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 damaging
Transcript: ENSMUST00000185595
AA Change: A91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: A91V

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,971,802 W189R probably damaging Het
Abcb7 A T X: 104,284,191 M704K possibly damaging Het
Anp32e A G 3: 95,937,052 D71G probably damaging Het
Asphd1 T C 7: 126,946,126 D353G probably damaging Het
Baz2b T C 2: 59,901,554 K2047E possibly damaging Het
Cyp2c39 G T 19: 39,566,917 V394F probably damaging Het
Ddx43 G A 9: 78,418,120 M482I probably benign Het
Dnah2 A T 11: 69,459,263 V2348E probably damaging Het
Fam135a A G 1: 24,044,182 F304L probably damaging Het
Gabra3 A G X: 72,540,128 I66T possibly damaging Het
Gm5861 T G 5: 11,183,113 N14K probably damaging Het
Gm8857 T A 5: 10,950,534 probably benign Het
Irf4 A T 13: 30,763,520 probably benign Het
Kif11 A G 19: 37,407,027 D578G probably benign Het
Lrig1 A G 6: 94,606,118 S1006P probably benign Het
Mfsd14a A C 3: 116,636,363 S307A probably benign Het
Mill1 A G 7: 18,264,665 T267A probably benign Het
Nfyc C A 4: 120,773,761 D62Y probably damaging Het
Nin T C 12: 70,026,810 T1190A probably benign Het
Nupl2 T C 5: 24,167,465 S84P probably damaging Het
Ociad1 T C 5: 73,294,332 S15P probably benign Het
Olfr1199 A T 2: 88,756,201 I158K probably damaging Het
Olfr822 A T 10: 130,074,679 I90F probably damaging Het
Olfr843 A G 9: 19,248,802 I199T probably benign Het
Pcdhb11 T A 18: 37,422,424 L269* probably null Het
Pigo A C 4: 43,022,103 M352R possibly damaging Het
Plch1 T C 3: 63,753,170 M343V probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prkag1 A G 15: 98,815,177 probably benign Het
Rasa4 A G 5: 136,102,012 K379R probably damaging Het
Rraga G A 4: 86,576,276 A120T probably damaging Het
Sik2 T C 9: 50,895,773 E779G probably damaging Het
Slc15a3 T G 19: 10,855,079 probably null Het
Smc1b C T 15: 85,070,863 D1063N possibly damaging Het
Srsf12 G A 4: 33,231,040 G183E probably damaging Het
Taf8 A G 17: 47,498,202 S112P probably benign Het
Trhde A G 10: 114,413,308 L851P probably benign Het
Wapl G T 14: 34,745,631 V1182F possibly damaging Het
Zfp326 A G 5: 105,891,193 I231V probably benign 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
IGL02730:Serpina3a APN 12 104119663 missense probably damaging 1.00
IGL02953:Serpina3a APN 12 104116489 missense probably benign 0.00
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 On2016-08-02