Incidental Mutation 'IGL02593:Serpina3a'
ID299798
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 #IGL02593
Quality Score
Status
Chromosome12
Chromosomal Location104112724-104121896 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 104118432 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 29 (V29L)
Ref Sequence ENSEMBL: ENSMUSP00000105591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]
Predicted Effect probably benign
Transcript: ENSMUST00000021496
AA Change: V219L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: V219L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109965
AA Change: V29L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: V29L

DomainStartEndE-ValueType
SERPIN 4 229 5.39e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185595
AA Change: V219L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: V219L

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg G T 16: 22,892,328 probably null Het
Bbs4 C T 9: 59,328,597 D232N probably damaging Het
Cdh23 A T 10: 60,465,995 probably benign Het
Cntn5 T C 9: 9,833,499 N554S probably damaging Het
Fn1 T C 1: 71,602,432 I1652V probably benign Het
Gm17677 T A 9: 35,742,142 C81S possibly damaging Het
Gm364 G A X: 57,421,960 D245N probably benign Het
Golga4 T C 9: 118,555,566 probably benign Het
Idh3a T A 9: 54,596,193 probably benign Het
Jph2 T C 2: 163,397,246 Y94C probably damaging Het
Lnx2 A G 5: 147,033,015 S238P possibly damaging Het
Loxhd1 A G 18: 77,410,539 I56V possibly damaging Het
Myo9b A C 8: 71,290,773 E159D probably damaging Het
Nkiras1 A G 14: 18,278,475 N63S possibly damaging Het
Nnmt A G 9: 48,604,803 probably null Het
Olfr535 G A 7: 140,493,331 R231H probably benign Het
P2ry10 T C X: 107,102,696 I79T possibly damaging Het
Padi2 A G 4: 140,949,842 H647R probably damaging Het
Ptchd4 A G 17: 42,317,146 D166G probably benign Het
Scml2 T C X: 161,187,309 V125A probably benign Het
Senp2 A G 16: 22,044,271 D556G probably damaging Het
Sgcz A T 8: 37,523,278 I307N probably damaging Het
Slc25a13 C T 6: 6,042,265 V638I probably benign Het
Snx7 G A 3: 117,839,960 L84F probably damaging Het
Ticrr A G 7: 79,695,466 D1693G probably damaging Het
Vmn2r7 C T 3: 64,693,022 C485Y probably damaging Het
Vmn2r-ps129 C T 17: 22,992,796 noncoding transcript Het
Zfyve9 A G 4: 108,682,223 V951A possibly 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
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 On2015-04-16