Incidental Mutation 'R6235:Serpina3i'
ID 504896
Institutional Source Beutler Lab
Gene Symbol Serpina3i
Ensembl Gene ENSMUSG00000079014
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3I
Synonyms alpha-1 antiproteinase, antitrypsin, 2B2, Gm6930
MMRRC Submission 044433-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6235 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 104229381-104235631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104232791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 232 (M232K)
Ref Sequence ENSEMBL: ENSMUSP00000105584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109958]
AlphaFold D3Z450
Predicted Effect probably damaging
Transcript: ENSMUST00000109958
AA Change: M232K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
AA Change: M232K

DomainStartEndE-ValueType
SERPIN 46 407 8.45e-187 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109960
Meta Mutation Damage Score 0.9395 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adam6b T C 12: 113,455,330 (GRCm39) F716L probably benign Het
Akip1 A G 7: 109,306,620 (GRCm39) M106V probably benign Het
Aldh1l1 A T 6: 90,541,439 (GRCm39) I278F probably benign Het
Aplnr A G 2: 84,967,970 (GRCm39) T332A probably benign Het
Aqp4 A G 18: 15,531,170 (GRCm39) V197A probably damaging Het
Arid4a A T 12: 71,116,546 (GRCm39) probably null Het
Baiap2 A T 11: 119,872,234 (GRCm39) N99Y probably damaging Het
Ceacam1 A T 7: 25,171,217 (GRCm39) probably null Het
Cep78 T C 19: 15,953,850 (GRCm39) probably null Het
Cldn3 T C 5: 135,015,573 (GRCm39) F92S possibly damaging Het
Clec16a C A 16: 10,512,499 (GRCm39) P812Q probably damaging Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Copg2 A G 6: 30,793,006 (GRCm39) I443T probably damaging Het
Crhbp C A 13: 95,580,358 (GRCm39) A81S probably damaging Het
Csad A T 15: 102,087,041 (GRCm39) V410D probably damaging Het
Ctps1 G A 4: 120,416,003 (GRCm39) L207F probably benign Het
Dab2ip A G 2: 35,613,099 (GRCm39) E1003G probably damaging Het
Ddx31 C G 2: 28,734,854 (GRCm39) A5G probably benign Het
Dnah12 A T 14: 26,576,761 (GRCm39) I3004F probably damaging Het
Fbxo15 A G 18: 84,999,029 (GRCm39) probably benign Het
Fbxw28 C A 9: 109,155,258 (GRCm39) W356C probably damaging Het
Gimap6 G T 6: 48,679,391 (GRCm39) T215K probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Hunk A G 16: 90,229,594 (GRCm39) I152V probably damaging Het
Itk T C 11: 46,227,255 (GRCm39) E456G probably benign Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Lars2 T C 9: 123,240,945 (GRCm39) V204A probably damaging Het
Lipo3 A G 19: 33,760,963 (GRCm39) Y140H probably damaging Het
Lrp1 G A 10: 127,424,046 (GRCm39) R809W probably damaging Het
Magi3 C T 3: 103,923,384 (GRCm39) G1111D probably damaging Het
Mis18bp1 A T 12: 65,205,182 (GRCm39) V47E probably damaging Het
Mpdz T C 4: 81,303,518 (GRCm39) E140G probably damaging Het
Myo1d T C 11: 80,583,770 (GRCm39) I81V probably benign Het
Nek10 T A 14: 14,821,113 (GRCm38) Y26* probably null Het
Ntng2 C A 2: 29,117,991 (GRCm39) E152D probably damaging Het
Or10w1 C A 19: 13,632,145 (GRCm39) C117* probably null Het
Or5m9b T C 2: 85,905,510 (GRCm39) L142P possibly damaging Het
Otud3 A T 4: 138,629,212 (GRCm39) V185D probably damaging Het
Parp6 C T 9: 59,538,098 (GRCm39) R248W probably benign Het
Pcdhga7 A G 18: 37,849,483 (GRCm39) T497A probably benign Het
Ppp1r18 A G 17: 36,184,769 (GRCm39) E140G probably damaging Het
Prl3b1 T C 13: 27,431,928 (GRCm39) L151P probably damaging Het
Pth1r C T 9: 110,551,384 (GRCm39) E572K possibly damaging Het
Ptprq T A 10: 107,471,199 (GRCm39) T1401S possibly damaging Het
Rad51ap2 A G 12: 11,507,517 (GRCm39) T480A possibly damaging Het
Rax T A 18: 66,068,232 (GRCm39) Q291L unknown Het
Reck T C 4: 43,937,450 (GRCm39) L734P probably damaging Het
Rgmb A G 17: 16,041,081 (GRCm39) F169L probably damaging Het
Rhobtb3 T C 13: 76,041,029 (GRCm39) I426M probably damaging Het
Ring1 C A 17: 34,242,280 (GRCm39) A76S probably damaging Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rpusd2 A G 2: 118,865,338 (GRCm39) I12V probably benign Het
Rragd T C 4: 32,995,985 (GRCm39) V165A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Ryr1 G T 7: 28,815,606 (GRCm39) Q95K probably benign Het
S1pr4 T A 10: 81,334,716 (GRCm39) N253Y possibly damaging Het
Scn3a A C 2: 65,291,679 (GRCm39) V1689G probably damaging Het
Sdhb A G 4: 140,700,984 (GRCm39) N147D probably damaging Het
Sdk1 A T 5: 142,020,181 (GRCm39) H913L possibly damaging Het
Sipa1l2 A T 8: 126,201,610 (GRCm39) V646E probably damaging Het
Slc38a1 A T 15: 96,476,673 (GRCm39) I396N probably benign Het
Slc6a13 A T 6: 121,279,753 (GRCm39) E42D probably benign Het
Stard9 G A 2: 120,544,027 (GRCm39) V4442M probably damaging Het
Sumo3 T A 10: 77,452,071 (GRCm39) probably benign Het
Syngap1 A G 17: 27,177,104 (GRCm39) I356V probably benign Het
Tcam1 C T 11: 106,174,880 (GRCm39) Q112* probably null Het
Tdp2 T A 13: 25,024,378 (GRCm39) L225* probably null Het
Tmprss7 A G 16: 45,478,485 (GRCm39) V747A probably benign Het
Ugt2b34 T A 5: 87,054,223 (GRCm39) Y186F probably benign Het
Usp37 G T 1: 74,514,292 (GRCm39) S293* probably null Het
Vmn1r36 A G 6: 66,693,230 (GRCm39) I109T probably benign Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Zfp36l1 G T 12: 80,159,596 (GRCm39) C18* probably null Het
Zfp959 T C 17: 56,204,427 (GRCm39) Y152H probably damaging Het
Zfyve26 A T 12: 79,296,373 (GRCm39) C1949S probably damaging Het
Zswim9 T A 7: 12,995,529 (GRCm39) E209V probably damaging Het
Other mutations in Serpina3i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00658:Serpina3i APN 12 104,231,429 (GRCm39) missense possibly damaging 0.47
IGL01311:Serpina3i APN 12 104,233,946 (GRCm39) missense probably damaging 1.00
IGL02661:Serpina3i APN 12 104,231,515 (GRCm39) nonsense probably null
IGL02819:Serpina3i APN 12 104,234,761 (GRCm39) missense probably damaging 1.00
FR4340:Serpina3i UTSW 12 104,231,423 (GRCm39) small insertion probably benign
PIT4431001:Serpina3i UTSW 12 104,231,432 (GRCm39) missense probably benign 0.03
R0091:Serpina3i UTSW 12 104,231,423 (GRCm39) missense probably damaging 0.97
R0678:Serpina3i UTSW 12 104,232,978 (GRCm39) critical splice donor site probably null
R1624:Serpina3i UTSW 12 104,234,897 (GRCm39) makesense probably null
R4604:Serpina3i UTSW 12 104,234,036 (GRCm39) missense possibly damaging 0.91
R4814:Serpina3i UTSW 12 104,231,470 (GRCm39) missense probably benign 0.00
R5213:Serpina3i UTSW 12 104,231,914 (GRCm39) missense probably benign
R5464:Serpina3i UTSW 12 104,234,751 (GRCm39) missense possibly damaging 0.62
R5504:Serpina3i UTSW 12 104,232,862 (GRCm39) missense probably damaging 1.00
R5723:Serpina3i UTSW 12 104,231,759 (GRCm39) missense probably benign 0.09
R5828:Serpina3i UTSW 12 104,231,474 (GRCm39) missense probably benign 0.35
R5922:Serpina3i UTSW 12 104,232,766 (GRCm39) missense probably benign 0.15
R6194:Serpina3i UTSW 12 104,232,762 (GRCm39) missense probably benign 0.21
R6469:Serpina3i UTSW 12 104,232,776 (GRCm39) missense probably damaging 1.00
R6631:Serpina3i UTSW 12 104,232,725 (GRCm39) missense probably damaging 0.99
R7993:Serpina3i UTSW 12 104,231,407 (GRCm39) missense possibly damaging 0.80
R8437:Serpina3i UTSW 12 104,231,963 (GRCm39) missense probably damaging 1.00
R8680:Serpina3i UTSW 12 104,231,387 (GRCm39) missense possibly damaging 0.61
R9157:Serpina3i UTSW 12 104,231,672 (GRCm39) missense probably damaging 1.00
R9249:Serpina3i UTSW 12 104,231,728 (GRCm39) nonsense probably null
R9303:Serpina3i UTSW 12 104,234,881 (GRCm39) missense probably damaging 0.98
R9305:Serpina3i UTSW 12 104,234,881 (GRCm39) missense probably damaging 0.98
R9313:Serpina3i UTSW 12 104,231,672 (GRCm39) missense probably damaging 1.00
R9424:Serpina3i UTSW 12 104,234,730 (GRCm39) missense probably benign
R9572:Serpina3i UTSW 12 104,234,743 (GRCm39) missense probably damaging 1.00
R9576:Serpina3i UTSW 12 104,234,730 (GRCm39) missense probably benign
Z1176:Serpina3i UTSW 12 104,233,989 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAGGGACACTGTGCTGTTG -3'
(R):5'- ACCTGGGTTTCAGAGAGTTCTTC -3'

Sequencing Primer
(F):5'- GCTGTTGAAGGTATATTGACAGC -3'
(R):5'- AGAGAGTTCTTCCACTTCCTCAGG -3'
Posted On 2018-02-28