Incidental Mutation 'R1888:Serpina3a'
ID 211919
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 039909-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R1888 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104078983-104088155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104082362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 45 (D45G)
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 benign
Transcript: ENSMUST00000021496
AA Change: D45G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: D45G

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: D45G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: D45G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Meta Mutation Damage Score 0.1920 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,960,030 (GRCm39) M80T unknown Het
4930578I06Rik A G 14: 64,223,632 (GRCm39) L48P probably damaging Het
Abcc9 A G 6: 142,625,040 (GRCm39) S452P probably benign Het
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Adgrf5 T G 17: 43,737,896 (GRCm39) probably null Het
Adgrl4 A G 3: 151,144,914 (GRCm39) N21S probably benign Het
Adss2 A T 1: 177,612,517 (GRCm39) Y77* probably null Het
Ahnak A T 19: 8,984,452 (GRCm39) D1912V probably damaging Het
Ahnak2 A G 12: 112,740,325 (GRCm39) M1249T possibly damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Bbs12 C A 3: 37,374,712 (GRCm39) L387I probably damaging Het
Ciita T C 16: 10,328,948 (GRCm39) Y411H probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clec9a G A 6: 129,387,249 (GRCm39) V35I probably benign Het
Cntn5 T A 9: 9,984,082 (GRCm39) Q382L possibly damaging Het
Cracdl T C 1: 37,663,364 (GRCm39) K845E possibly damaging Het
Dock2 A T 11: 34,598,169 (GRCm39) I334N probably damaging Het
Dock9 G T 14: 121,862,617 (GRCm39) T833K probably benign Het
Drd2 G A 9: 49,313,442 (GRCm39) V204I probably benign Het
Fam120a A T 13: 49,039,342 (GRCm39) I938N possibly damaging Het
Fndc1 T C 17: 7,990,621 (GRCm39) E1025G unknown Het
Fsip2 G A 2: 82,774,504 (GRCm39) D64N probably benign Het
Gm14496 T A 2: 181,641,989 (GRCm39) C553* probably null Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Hmcn1 C G 1: 150,695,251 (GRCm39) A218P possibly damaging Het
Hpgds A G 6: 65,115,217 (GRCm39) F22S probably damaging Het
Il5ra T A 6: 106,708,874 (GRCm39) N289Y probably damaging Het
Irf2 A T 8: 47,260,388 (GRCm39) R107* probably null Het
Kcnk6 T C 7: 28,925,075 (GRCm39) I180M probably benign Het
Krtap5-3 G A 7: 141,755,979 (GRCm39) probably benign Het
Lrig1 C T 6: 94,631,859 (GRCm39) A114T probably benign Het
Lrrc37a A G 11: 103,389,587 (GRCm39) V1946A probably benign Het
Lrrc8b T C 5: 105,629,217 (GRCm39) V521A probably benign Het
Macf1 T G 4: 123,348,835 (GRCm39) I2154L possibly damaging Het
Macf1 C A 4: 123,368,505 (GRCm39) E2085D probably benign Het
Maml1 C T 11: 50,157,468 (GRCm39) A236T probably benign Het
Mdc1 C A 17: 36,165,117 (GRCm39) T1481K probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mfap3l T C 8: 61,124,424 (GRCm39) V222A possibly damaging Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mpped2 T C 2: 106,529,790 (GRCm39) I13T probably benign Het
Mthfd1l C A 10: 4,056,528 (GRCm39) T948K probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mtx3 A G 13: 92,984,191 (GRCm39) E156G probably benign Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myh2 G A 11: 67,071,676 (GRCm39) V498M probably damaging Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Myo1b T A 1: 51,799,562 (GRCm39) probably null Het
Ndufa2 T A 18: 36,877,573 (GRCm39) probably benign Het
Nipal2 T C 15: 34,625,167 (GRCm39) I129M possibly damaging Het
Nt5dc3 A G 10: 86,669,926 (GRCm39) N507S possibly damaging Het
Or4b12 A G 2: 90,095,913 (GRCm39) L287P probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pcdhb17 G A 18: 37,620,438 (GRCm39) probably null Het
Pcyt2 A G 11: 120,508,677 (GRCm39) M1T probably null Het
Pla2g2d T C 4: 138,503,126 (GRCm39) M1T probably null Het
Plekhg6 T C 6: 125,340,306 (GRCm39) T685A probably damaging Het
Pramel19 T A 4: 101,798,335 (GRCm39) V102E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pxk T C 14: 8,151,540 (GRCm38) S452P probably damaging Het
Rab42 A T 4: 132,030,529 (GRCm39) D40E probably benign Het
Rapgef6 A C 11: 54,551,654 (GRCm39) T836P probably damaging Het
Sntb1 T A 15: 55,612,745 (GRCm39) R278* probably null Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Stk40 T A 4: 126,019,538 (GRCm39) L90Q probably damaging Het
Syk A G 13: 52,794,826 (GRCm39) Y520C probably damaging Het
Syngr2 G A 11: 117,704,224 (GRCm39) V170M possibly damaging Het
Tcf12 A T 9: 71,765,816 (GRCm39) D541E possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlr4 T C 4: 66,759,409 (GRCm39) V734A probably damaging Het
Tmem132a T C 19: 10,840,863 (GRCm39) E389G probably damaging Het
Tmem150b A G 7: 4,712,044 (GRCm39) I112T probably benign Het
Tril A G 6: 53,796,577 (GRCm39) L215P probably damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Ttn G A 2: 76,623,151 (GRCm39) P15429S probably damaging Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Tubgcp2 A G 7: 139,579,183 (GRCm39) V701A probably damaging Het
Tubgcp2 A G 7: 139,586,069 (GRCm39) F407L probably damaging Het
Vmn1r30 A C 6: 58,412,475 (GRCm39) L119R possibly damaging Het
Washc5 A C 15: 59,231,174 (GRCm39) L363R probably damaging Het
Zan T C 5: 137,387,590 (GRCm39) T4874A unknown Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Zfp512b C A 2: 181,230,235 (GRCm39) R497L probably damaging Het
Zmat4 A G 8: 24,505,177 (GRCm39) N139S probably damaging Het
Zng1 A T 19: 24,932,769 (GRCm39) V88D 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
R2110:Serpina3a UTSW 12 104,082,481 (GRCm39) missense probably damaging 0.97
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'- TCAAAGGATGTTTTCCCTTCAGC -3'
(R):5'- AGGTGCCCAAAGTTCTGGTG -3'

Sequencing Primer
(F):5'- TCCCTTCAGCCTGGAGAAC -3'
(R):5'- CTCTGTGAGATTGAACTTGAGACC -3'
Posted On 2014-06-30