Incidental Mutation 'IGL01404:Serpina3k'
ID278384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3k
Ensembl Gene ENSMUSG00000058207
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3K
SynonymsRP54, MMSpi2, MMCM2, alpha-1 antiproteinase, D12Rp54, contrapsin, 1300001I07Rik, Spi-2, Spi2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01404
Quality Score
Status
Chromosome12
Chromosomal Location104338486-104346144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104340623 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000042095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]
Predicted Effect probably benign
Transcript: ENSMUST00000043058
AA Change: D38G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: D38G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 57 417 4.77e-195 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101078
SMART Domains Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,164,378 probably null Het
4921524L21Rik T C 18: 6,638,653 S351P possibly damaging Het
Ablim3 A G 18: 61,871,683 Y12H probably damaging Het
Adam2 C T 14: 66,077,210 probably null Het
Adgre4 A T 17: 55,797,639 N235I possibly damaging Het
Aldh3b1 A C 19: 3,921,205 V153G probably benign Het
B430306N03Rik A G 17: 48,321,073 Y177C probably damaging Het
Cast A T 13: 74,738,287 Y249* probably null Het
Cfap43 T C 19: 47,795,666 D476G probably benign Het
Cpa4 T C 6: 30,581,702 I216T possibly damaging Het
Cpeb3 T C 19: 37,088,548 D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 D413G probably damaging Het
Cyb5a A G 18: 84,877,860 S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 probably null Het
Erbin A T 13: 103,839,464 S641T probably damaging Het
Espn T A 4: 152,138,444 T326S probably benign Het
Extl1 T C 4: 134,359,203 M514V probably benign Het
Fancc G A 13: 63,361,638 L134F probably damaging Het
Fis1 C T 5: 136,965,974 A90V probably benign Het
Gdi2 A G 13: 3,564,611 T319A probably benign Het
Gjc3 A G 5: 137,957,858 F55S probably damaging Het
Gm10762 C T 2: 128,967,085 probably benign Het
Got1 A G 19: 43,504,609 I291T possibly damaging Het
Gpr179 C A 11: 97,338,186 G1048* probably null Het
Ino80 T A 2: 119,456,718 D56V possibly damaging Het
Kcp C A 6: 29,496,639 C624F probably damaging Het
Kctd1 T A 18: 14,969,553 Q857L probably damaging Het
Lins1 G A 7: 66,713,928 V524I probably damaging Het
Lrp1 A T 10: 127,595,032 Y383N probably damaging Het
Mgam A C 6: 40,644,945 K84Q probably benign Het
Mib2 T A 4: 155,654,936 E862V probably damaging Het
Myh1 G T 11: 67,222,151 R1827L possibly damaging Het
Myh10 T C 11: 68,752,040 probably null Het
Myo1e A G 9: 70,337,766 Y382C probably benign Het
Nktr G A 9: 121,741,152 probably null Het
Nlrc4 A G 17: 74,445,711 I559T probably damaging Het
Nod2 A T 8: 88,663,736 M224L probably benign Het
Olfr175-ps1 G A 16: 58,824,595 T38I probably damaging Het
Olfr658 A T 7: 104,644,480 Y295* probably null Het
Olfr984 A G 9: 40,101,262 I76T probably benign Het
Pex7 G T 10: 19,894,811 probably benign Het
Ptprb A T 10: 116,339,436 D1112V probably benign Het
Rubcn G A 16: 32,827,296 T636M probably damaging Het
Scn5a A C 9: 119,486,470 L1724R probably damaging Het
Sec14l2 T C 11: 4,116,710 D34G possibly damaging Het
Sh3bgr A C 16: 96,206,490 K18N probably damaging Het
Sh3bp5l A T 11: 58,346,060 H281L probably benign Het
Slc28a2 T G 2: 122,452,057 I287M probably damaging Het
Slc2a1 T A 4: 119,132,238 M45K possibly damaging Het
Syt11 A G 3: 88,762,216 I123T probably benign Het
Tfg C A 16: 56,694,493 probably benign Het
Tmem177 T C 1: 119,910,061 D296G probably damaging Het
Trabd2b A G 4: 114,599,956 I357V probably benign Het
Trp63 C A 16: 25,820,385 probably benign Het
Ugt1a8 T C 1: 88,087,895 L10P probably benign Het
Vmn2r103 A G 17: 19,812,434 I823M probably damaging Het
Vmn2r45 T C 7: 8,481,468 N446S probably damaging Het
Vps13c A T 9: 67,913,204 probably null Het
Vwa3b C T 1: 37,154,036 T11I probably benign Het
Vwf A C 6: 125,677,970 Q2543P probably damaging Het
Yap1 G A 9: 7,934,741 probably benign Het
Zfp282 A C 6: 47,897,836 D325A probably damaging Het
Zfyve9 T G 4: 108,682,151 Y975S probably damaging Het
Other mutations in Serpina3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Serpina3k APN 12 104343110 missense probably benign 0.36
IGL01402:Serpina3k APN 12 104340623 missense probably benign 0.00
IGL01958:Serpina3k APN 12 104341057 missense probably damaging 1.00
IGL02031:Serpina3k APN 12 104345266 missense probably benign 0.08
IGL02055:Serpina3k APN 12 104341036 nonsense probably null
IGL02981:Serpina3k APN 12 104340991 missense probably benign 0.02
IGL03269:Serpina3k APN 12 104340521 missense possibly damaging 0.83
R1076:Serpina3k UTSW 12 104340994 missense probably benign 0.00
R2360:Serpina3k UTSW 12 104340907 nonsense probably null
R3816:Serpina3k UTSW 12 104340962 missense probably benign 0.08
R4577:Serpina3k UTSW 12 104344192 missense possibly damaging 0.94
R4656:Serpina3k UTSW 12 104345273 missense probably damaging 1.00
R4732:Serpina3k UTSW 12 104340860 missense probably damaging 1.00
R4733:Serpina3k UTSW 12 104340860 missense probably damaging 1.00
R4916:Serpina3k UTSW 12 104343010 missense probably damaging 1.00
R4999:Serpina3k UTSW 12 104341046 missense probably damaging 1.00
R5053:Serpina3k UTSW 12 104343214 critical splice donor site probably null
R6300:Serpina3k UTSW 12 104340722 missense probably damaging 1.00
R6343:Serpina3k UTSW 12 104345303 missense probably benign
R6851:Serpina3k UTSW 12 104345366 missense probably benign 0.00
R6858:Serpina3k UTSW 12 104345245 missense possibly damaging 0.85
R6872:Serpina3k UTSW 12 104344260 missense probably benign 0.25
R6992:Serpina3k UTSW 12 104341107 missense probably benign 0.00
R7025:Serpina3k UTSW 12 104341142 missense probably benign 0.01
R7050:Serpina3k UTSW 12 104341144 missense possibly damaging 0.96
R7238:Serpina3k UTSW 12 104343108 missense probably damaging 1.00
R7240:Serpina3k UTSW 12 104340602 missense probably benign 0.05
R7469:Serpina3k UTSW 12 104345335 missense not run
X0019:Serpina3k UTSW 12 104340575 missense probably benign 0.01
Posted On2015-04-16