Incidental Mutation 'IGL01402:Serpina3k'
ID 278345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3k
Ensembl Gene ENSMUSG00000058207
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3K
Synonyms Spi-2, alpha-1 antiproteinase, MMSpi2, 1300001I07Rik, RP54, contrapsin, Spi2, MMCM2, D12Rp54
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01402
Quality Score
Status
Chromosome 12
Chromosomal Location 104304745-104311998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104306882 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,638,653 (GRCm39) S351P possibly damaging Het
Abca2 T C 2: 25,332,015 (GRCm39) S1376P probably damaging Het
Ablim3 A G 18: 62,004,754 (GRCm39) Y12H probably damaging Het
Akr1b7 A G 6: 34,398,052 (GRCm39) R294G possibly damaging Het
Aldh3b1 A C 19: 3,971,205 (GRCm39) V153G probably benign Het
Alk A T 17: 72,181,173 (GRCm39) H1372Q probably damaging Het
Ano9 A C 7: 140,681,955 (GRCm39) Y731* probably null Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Asl T C 5: 130,048,645 (GRCm39) E43G probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cfap43 T C 19: 47,784,105 (GRCm39) D476G probably benign Het
Cpa1 A G 6: 30,645,275 (GRCm39) H417R possibly damaging Het
Cpeb3 T C 19: 37,065,948 (GRCm39) D407G probably benign Het
Dcaf15 A T 8: 84,825,026 (GRCm39) C469S probably damaging Het
Dpy19l4 C A 4: 11,273,006 (GRCm39) probably null Het
E4f1 A T 17: 24,663,208 (GRCm39) L699Q probably damaging Het
Eif4g2 A G 7: 110,676,234 (GRCm39) F349S possibly damaging Het
Ermap T C 4: 119,044,355 (GRCm39) Y147C probably damaging Het
Frk A C 10: 34,423,381 (GRCm39) E153A probably damaging Het
Fubp3 G A 2: 31,494,733 (GRCm39) probably null Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Gjc3 A G 5: 137,956,120 (GRCm39) F55S probably damaging Het
Gm10762 C T 2: 128,809,005 (GRCm39) probably benign Het
Got1 A G 19: 43,493,048 (GRCm39) I291T possibly damaging Het
Gpr179 C A 11: 97,229,012 (GRCm39) G1048* probably null Het
Hectd3 G T 4: 116,853,262 (GRCm39) R163L probably damaging Het
Hectd4 T C 5: 121,477,480 (GRCm39) probably benign Het
Ifnb1 T C 4: 88,440,480 (GRCm39) R178G probably benign Het
Ino80 T A 2: 119,287,199 (GRCm39) D56V possibly damaging Het
Kctd1 T A 18: 15,102,610 (GRCm39) Q857L probably damaging Het
Kdm5a T A 6: 120,367,640 (GRCm39) L445* probably null Het
Lins1 G A 7: 66,363,676 (GRCm39) V524I probably damaging Het
Lrp1 A T 10: 127,430,901 (GRCm39) Y383N probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mgam A C 6: 40,621,879 (GRCm39) K84Q probably benign Het
Mlh3 A T 12: 85,314,703 (GRCm39) F494L probably benign Het
Mpped1 T C 15: 83,676,414 (GRCm39) F60S possibly damaging Het
Myo1e A G 9: 70,245,048 (GRCm39) Y382C probably benign Het
Ncor1 C A 11: 62,231,300 (GRCm39) V836F probably damaging Het
Nktr G A 9: 121,570,218 (GRCm39) probably null Het
Or10al4 A G 17: 38,037,193 (GRCm39) T93A probably benign Het
Or4d5 A G 9: 40,012,558 (GRCm39) I76T probably benign Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Rnf144a T A 12: 26,377,300 (GRCm39) Y93F probably benign Het
Rubcn G A 16: 32,647,666 (GRCm39) T636M probably damaging Het
Scn5a A C 9: 119,315,536 (GRCm39) L1724R probably damaging Het
Sel1l A G 12: 91,808,607 (GRCm39) S45P possibly damaging Het
Sh3bgr A C 16: 96,007,690 (GRCm39) K18N probably damaging Het
Slc28a2 T G 2: 122,282,538 (GRCm39) I287M probably damaging Het
St8sia6 T C 2: 13,670,318 (GRCm39) N214S probably damaging Het
Syt11 A G 3: 88,669,523 (GRCm39) I123T probably benign Het
Tcerg1l A T 7: 137,861,568 (GRCm39) I387N probably damaging Het
Tfg C A 16: 56,514,856 (GRCm39) probably benign Het
Tgm4 A G 9: 122,880,519 (GRCm39) K307E possibly damaging Het
Tmem177 T C 1: 119,837,791 (GRCm39) D296G probably damaging Het
Tmem270 C T 5: 134,930,763 (GRCm39) probably benign Het
Tnrc6b G T 15: 80,764,745 (GRCm39) G749V possibly damaging Het
Trp63 C A 16: 25,639,135 (GRCm39) probably benign Het
Ugt1a8 T C 1: 88,015,617 (GRCm39) L10P probably benign Het
Vmn2r107 A T 17: 20,596,009 (GRCm39) K854M probably damaging Het
Vmn2r45 T C 7: 8,484,467 (GRCm39) N446S probably damaging Het
Vps13c A T 9: 67,820,486 (GRCm39) probably null Het
Wdr91 G A 6: 34,865,998 (GRCm39) P518L probably benign Het
Yap1 G A 9: 7,934,742 (GRCm39) probably benign Het
Zfp282 A C 6: 47,874,770 (GRCm39) D325A probably damaging Het
Other mutations in Serpina3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Serpina3k APN 12 104,309,369 (GRCm39) missense probably benign 0.36
IGL01404:Serpina3k APN 12 104,306,882 (GRCm39) missense probably benign 0.00
IGL01958:Serpina3k APN 12 104,307,316 (GRCm39) missense probably damaging 1.00
IGL02031:Serpina3k APN 12 104,311,525 (GRCm39) missense probably benign 0.08
IGL02055:Serpina3k APN 12 104,307,295 (GRCm39) nonsense probably null
IGL02981:Serpina3k APN 12 104,307,250 (GRCm39) missense probably benign 0.02
IGL03269:Serpina3k APN 12 104,306,780 (GRCm39) missense possibly damaging 0.83
R1076:Serpina3k UTSW 12 104,307,253 (GRCm39) missense probably benign 0.00
R2360:Serpina3k UTSW 12 104,307,166 (GRCm39) nonsense probably null
R3816:Serpina3k UTSW 12 104,307,221 (GRCm39) missense probably benign 0.08
R4577:Serpina3k UTSW 12 104,310,451 (GRCm39) missense possibly damaging 0.94
R4656:Serpina3k UTSW 12 104,311,532 (GRCm39) missense probably damaging 1.00
R4732:Serpina3k UTSW 12 104,307,119 (GRCm39) missense probably damaging 1.00
R4733:Serpina3k UTSW 12 104,307,119 (GRCm39) missense probably damaging 1.00
R4916:Serpina3k UTSW 12 104,309,269 (GRCm39) missense probably damaging 1.00
R4999:Serpina3k UTSW 12 104,307,305 (GRCm39) missense probably damaging 1.00
R5053:Serpina3k UTSW 12 104,309,473 (GRCm39) critical splice donor site probably null
R6300:Serpina3k UTSW 12 104,306,981 (GRCm39) missense probably damaging 1.00
R6343:Serpina3k UTSW 12 104,311,562 (GRCm39) missense probably benign
R6851:Serpina3k UTSW 12 104,311,625 (GRCm39) missense probably benign 0.00
R6858:Serpina3k UTSW 12 104,311,504 (GRCm39) missense possibly damaging 0.85
R6872:Serpina3k UTSW 12 104,310,519 (GRCm39) missense probably benign 0.25
R6992:Serpina3k UTSW 12 104,307,366 (GRCm39) missense probably benign 0.00
R7025:Serpina3k UTSW 12 104,307,401 (GRCm39) missense probably benign 0.01
R7050:Serpina3k UTSW 12 104,307,403 (GRCm39) missense possibly damaging 0.96
R7238:Serpina3k UTSW 12 104,309,367 (GRCm39) missense probably damaging 1.00
R7240:Serpina3k UTSW 12 104,306,861 (GRCm39) missense probably benign 0.05
R7469:Serpina3k UTSW 12 104,311,594 (GRCm39) missense not run
R8837:Serpina3k UTSW 12 104,309,292 (GRCm39) missense probably benign 0.00
R9025:Serpina3k UTSW 12 104,307,230 (GRCm39) missense probably damaging 1.00
R9497:Serpina3k UTSW 12 104,309,430 (GRCm39) missense probably benign 0.01
X0019:Serpina3k UTSW 12 104,306,834 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16