Incidental Mutation 'IGL02819:Serpina3i'
ID360899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3i
Ensembl Gene ENSMUSG00000079014
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3I
Synonymsalpha-1 antiproteinase, Gm6930, 2B2, antitrypsin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02819
Quality Score
Status
Chromosome12
Chromosomal Location104263122-104269372 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104268502 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 364 (T364I)
Ref Sequence ENSEMBL: ENSMUSP00000105584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109958]
Predicted Effect probably damaging
Transcript: ENSMUST00000109958
AA Change: T364I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
AA Change: T364I

DomainStartEndE-ValueType
SERPIN 46 407 8.45e-187 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109960
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,564,220 probably benign Het
Abcb8 T A 5: 24,406,424 N470K probably benign Het
Adamtsl3 A T 7: 82,574,121 N1037Y probably damaging Het
Adcy3 T C 12: 4,206,986 probably benign Het
Ankrd35 A G 3: 96,690,208 D983G possibly damaging Het
Asf1a A G 10: 53,607,824 T118A probably benign Het
Atp2a3 T C 11: 72,977,207 Y389H probably damaging Het
Atp5b T C 10: 128,083,952 I63T probably damaging Het
C2cd5 A G 6: 143,083,220 Y98H probably benign Het
Caprin2 A G 6: 148,848,258 V518A probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clcn2 C A 16: 20,709,256 E487* probably null Het
Cog6 T A 3: 53,009,545 K184M probably damaging Het
Cpn1 A G 19: 43,968,468 Y286H probably damaging Het
Cpne9 A T 6: 113,300,663 S448C probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Cys1 T C 12: 24,667,170 E132G possibly damaging Het
Depdc7 T C 2: 104,724,726 M280V probably benign Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Golga1 T A 2: 39,039,078 N318Y probably null Het
Hsd3b6 A G 3: 98,810,946 V34A probably benign Het
Krt9 A G 11: 100,191,520 I193T probably damaging Het
Lama4 A T 10: 39,026,569 I180F possibly damaging Het
Lamc1 T C 1: 153,250,661 T458A probably damaging Het
Lin28b A T 10: 45,470,059 M1K probably null Het
Myo16 T C 8: 10,322,600 C100R probably damaging Het
Nt5c3 A T 6: 56,883,733 M279K probably damaging Het
Ppfia2 A G 10: 106,906,394 Y1016C probably damaging Het
Rpl6 A G 5: 121,207,201 probably benign Het
Rpn2 G T 2: 157,316,210 probably null Het
Rspry1 T C 8: 94,654,256 V396A probably benign Het
Shprh A G 10: 11,154,765 K242R possibly damaging Het
Slit3 A G 11: 35,171,590 N72S possibly damaging Het
Syt17 G A 7: 118,409,920 probably benign Het
Tatdn3 C A 1: 191,055,344 A114S probably benign Het
Tjp2 A G 19: 24,114,105 V564A probably damaging Het
Tmem117 T C 15: 94,879,372 probably benign Het
Tnfrsf8 T C 4: 145,269,133 E452G probably damaging Het
Tns1 T C 1: 73,937,248 D1147G probably damaging Het
Traf6 T C 2: 101,684,789 S97P probably damaging Het
Ttc28 A T 5: 111,266,583 E1321D probably benign Het
Other mutations in Serpina3i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00658:Serpina3i APN 12 104265170 missense possibly damaging 0.47
IGL01311:Serpina3i APN 12 104267687 missense probably damaging 1.00
IGL02661:Serpina3i APN 12 104265256 nonsense probably null
FR4340:Serpina3i UTSW 12 104265164 small insertion probably benign
PIT4431001:Serpina3i UTSW 12 104265173 missense probably benign 0.03
R0091:Serpina3i UTSW 12 104265164 missense probably damaging 0.97
R0678:Serpina3i UTSW 12 104266719 critical splice donor site probably null
R1624:Serpina3i UTSW 12 104268638 makesense probably null
R4604:Serpina3i UTSW 12 104267777 missense possibly damaging 0.91
R4814:Serpina3i UTSW 12 104265211 missense probably benign 0.00
R5213:Serpina3i UTSW 12 104265655 missense probably benign
R5464:Serpina3i UTSW 12 104268492 missense possibly damaging 0.62
R5504:Serpina3i UTSW 12 104266603 missense probably damaging 1.00
R5723:Serpina3i UTSW 12 104265500 missense probably benign 0.09
R5828:Serpina3i UTSW 12 104265215 missense probably benign 0.35
R5922:Serpina3i UTSW 12 104266507 missense probably benign 0.15
R6194:Serpina3i UTSW 12 104266503 missense probably benign 0.21
R6235:Serpina3i UTSW 12 104266532 missense probably damaging 1.00
R6469:Serpina3i UTSW 12 104266517 missense probably damaging 1.00
R6631:Serpina3i UTSW 12 104266466 missense probably damaging 0.99
R7993:Serpina3i UTSW 12 104265148 missense possibly damaging 0.80
R8437:Serpina3i UTSW 12 104265704 missense probably damaging 1.00
R8680:Serpina3i UTSW 12 104265128 missense possibly damaging 0.61
Z1176:Serpina3i UTSW 12 104267730 missense probably damaging 1.00
Posted On2015-12-18