Incidental Mutation 'R2110:Serpina3a'
ID 232480
Institutional Source Beutler Lab
Gene Symbol Serpina3a
Ensembl Gene ENSMUSG00000041536
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3A
Synonyms 4933406L18Rik, alpha-1 antiproteinase,, antitrypsin
MMRRC Submission 040114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2110 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104078983-104088155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104082481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 85 (A85T)
Ref Sequence ENSEMBL: ENSMUSP00000140024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021496
AA Change: A85T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: A85T

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: A85T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: A85T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Meta Mutation Damage Score 0.3889 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330161L09Rik T C 12: 103,373,848 (GRCm39) probably benign Het
Ablim1 T C 19: 57,032,245 (GRCm39) D638G possibly damaging Het
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Aim2 T C 1: 173,287,279 (GRCm39) M93T probably benign Het
Alpk2 T C 18: 65,440,151 (GRCm39) E414G possibly damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Bard1 T A 1: 71,114,550 (GRCm39) K144* probably null Het
Begain G T 12: 108,999,843 (GRCm39) Y514* probably null Het
Ccdc186 A T 19: 56,788,574 (GRCm39) I545N possibly damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cfap43 T C 19: 47,824,197 (GRCm39) Y58C probably damaging Het
Cfap54 A T 10: 92,722,229 (GRCm39) D2437E unknown Het
Chd2 A G 7: 73,079,735 (GRCm39) S1722P probably benign Het
Clec5a C T 6: 40,562,137 (GRCm39) G9E probably damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col3a1 C T 1: 45,369,305 (GRCm39) P331S unknown Het
Ctsk T C 3: 95,413,988 (GRCm39) I245T probably benign Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Eci2 A G 13: 35,174,699 (GRCm39) probably null Het
Ecm1 C T 3: 95,643,254 (GRCm39) A349T probably benign Het
Efemp2 A G 19: 5,525,190 (GRCm39) E32G probably damaging Het
Flt4 C A 11: 49,516,131 (GRCm39) T78K probably benign Het
Foxg1 A G 12: 49,431,708 (GRCm39) probably benign Het
Fv1 T C 4: 147,954,619 (GRCm39) V395A possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gpha2 T G 19: 6,277,532 (GRCm39) V96G probably damaging Het
Gse1 A G 8: 121,293,719 (GRCm39) Y228C probably damaging Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Ildr1 A G 16: 36,542,341 (GRCm39) E247G probably damaging Het
Ktn1 T A 14: 47,931,345 (GRCm39) M646K possibly damaging Het
Lrrc37a T A 11: 103,388,648 (GRCm39) H2259L unknown Het
Map1b A T 13: 99,567,629 (GRCm39) H1697Q unknown Het
Mdn1 A G 4: 32,700,409 (GRCm39) E1456G probably damaging Het
Mta1 C T 12: 113,095,248 (GRCm39) T467I probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Ncoa5 C A 2: 164,854,838 (GRCm39) D95Y possibly damaging Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nr3c2 T C 8: 77,635,156 (GRCm39) S86P possibly damaging Het
Nup153 A G 13: 46,837,404 (GRCm39) S1273P probably benign Het
Or8g52 G A 9: 39,631,018 (GRCm39) R165Q probably benign Het
Pcsk5 C A 19: 17,450,423 (GRCm39) G1142C probably damaging Het
Pgghg A G 7: 140,523,453 (GRCm39) D244G possibly damaging Het
Polr1has T C 17: 37,276,336 (GRCm39) V306A possibly damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Rad52 A T 6: 119,897,855 (GRCm39) Q356L possibly damaging Het
Rhpn1 T A 15: 75,585,083 (GRCm39) F507I probably damaging Het
Rhpn2 T C 7: 35,076,433 (GRCm39) M328T probably benign Het
Rnf19a T C 15: 36,254,665 (GRCm39) I298V possibly damaging Het
Rwdd2a T C 9: 86,456,184 (GRCm39) V120A probably benign Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Slc16a11 G A 11: 70,106,146 (GRCm39) G80D probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Spg21 T A 9: 65,391,711 (GRCm39) probably null Het
Spopfm2 A G 3: 94,082,834 (GRCm39) S326P probably damaging Het
Sry T C Y: 2,662,901 (GRCm39) H253R unknown Het
Swt1 A G 1: 151,279,636 (GRCm39) S391P probably damaging Het
Uhrf2 A G 19: 30,033,888 (GRCm39) Y200C probably damaging Het
Utp15 T C 13: 98,391,493 (GRCm39) H248R probably damaging Het
Utp20 A G 10: 88,603,313 (GRCm39) probably null Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r56 A T 7: 5,199,179 (GRCm39) M146K probably damaging Het
Zfp143 A T 7: 109,685,453 (GRCm39) K399N probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y probably damaging Het
Other mutations in Serpina3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Serpina3a APN 12 104,087,758 (GRCm39) missense probably benign 0.05
IGL02003:Serpina3a APN 12 104,082,259 (GRCm39) missense probably benign 0.02
IGL02379:Serpina3a APN 12 104,084,919 (GRCm39) missense probably benign 0.00
IGL02547:Serpina3a APN 12 104,082,802 (GRCm39) missense probably damaging 0.98
IGL02593:Serpina3a APN 12 104,084,691 (GRCm39) missense probably benign 0.01
IGL02730:Serpina3a APN 12 104,085,922 (GRCm39) missense probably damaging 1.00
IGL02953:Serpina3a APN 12 104,082,748 (GRCm39) missense probably benign 0.00
IGL03197:Serpina3a APN 12 104,082,500 (GRCm39) missense probably damaging 1.00
R1184:Serpina3a UTSW 12 104,082,787 (GRCm39) nonsense probably null
R1635:Serpina3a UTSW 12 104,082,737 (GRCm39) missense probably damaging 1.00
R1688:Serpina3a UTSW 12 104,084,902 (GRCm39) missense probably benign 0.06
R1804:Serpina3a UTSW 12 104,084,675 (GRCm39) splice site probably benign
R1867:Serpina3a UTSW 12 104,084,886 (GRCm39) missense probably benign 0.01
R1888:Serpina3a UTSW 12 104,082,362 (GRCm39) missense probably benign 0.16
R1888:Serpina3a UTSW 12 104,082,362 (GRCm39) missense probably benign 0.16
R2111:Serpina3a UTSW 12 104,082,481 (GRCm39) missense probably damaging 0.97
R2305:Serpina3a UTSW 12 104,082,787 (GRCm39) missense probably benign 0.05
R2326:Serpina3a UTSW 12 104,082,758 (GRCm39) missense probably benign 0.01
R2405:Serpina3a UTSW 12 104,087,577 (GRCm39) missense possibly damaging 0.50
R4008:Serpina3a UTSW 12 104,084,902 (GRCm39) missense probably benign 0.06
R4010:Serpina3a UTSW 12 104,084,902 (GRCm39) missense probably benign 0.06
R4011:Serpina3a UTSW 12 104,084,902 (GRCm39) missense probably benign 0.06
R4079:Serpina3a UTSW 12 104,085,934 (GRCm39) nonsense probably null
R4091:Serpina3a UTSW 12 104,082,625 (GRCm39) missense probably benign 0.01
R4092:Serpina3a UTSW 12 104,082,625 (GRCm39) missense probably benign 0.01
R4210:Serpina3a UTSW 12 104,084,902 (GRCm39) missense probably benign 0.06
R5064:Serpina3a UTSW 12 104,082,448 (GRCm39) missense probably benign 0.01
R6242:Serpina3a UTSW 12 104,082,260 (GRCm39) missense probably benign 0.10
R6337:Serpina3a UTSW 12 104,079,137 (GRCm39) missense probably benign 0.36
R6395:Serpina3a UTSW 12 104,082,710 (GRCm39) missense probably damaging 0.99
R6683:Serpina3a UTSW 12 104,085,896 (GRCm39) missense probably benign 0.16
R6994:Serpina3a UTSW 12 104,079,089 (GRCm39) splice site probably null
R7117:Serpina3a UTSW 12 104,082,436 (GRCm39) missense possibly damaging 0.95
R8104:Serpina3a UTSW 12 104,079,110 (GRCm39) start gained probably benign
R8131:Serpina3a UTSW 12 104,082,467 (GRCm39) missense probably damaging 1.00
R9042:Serpina3a UTSW 12 104,082,362 (GRCm39) missense probably benign 0.16
R9089:Serpina3a UTSW 12 104,085,956 (GRCm39) missense possibly damaging 0.86
R9141:Serpina3a UTSW 12 104,087,649 (GRCm39) missense probably benign 0.00
R9426:Serpina3a UTSW 12 104,087,649 (GRCm39) missense probably benign 0.00
R9564:Serpina3a UTSW 12 104,084,886 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TATCACCTACTGGGCAACTGC -3'
(R):5'- TCAAGATCTGCAGGTGCTTATC -3'

Sequencing Primer
(F):5'- ACCTACTGGGCAACTGCAGATG -3'
(R):5'- GCTTATCAATAAACAGGGCGTTGC -3'
Posted On 2014-09-18