Incidental Mutation 'R4577:Serpina3k'
ID 342572
Institutional Source Beutler Lab
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 # R4577 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104304745-104311998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104310451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 327 (V327G)
Ref Sequence ENSEMBL: ENSMUSP00000042095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000043058
AA Change: V327G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: V327G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,430,323 (GRCm39) I222S probably damaging Het
Abca1 C A 4: 53,062,568 (GRCm39) C1429F possibly damaging Het
Acacb A G 5: 114,364,892 (GRCm39) E1524G probably damaging Het
Ankrd50 A G 3: 38,510,090 (GRCm39) V759A probably damaging Het
Ano9 T C 7: 140,684,051 (GRCm39) Q538R probably damaging Het
Bnip2 A G 9: 69,904,444 (GRCm39) D67G probably benign Het
Cacna1e A T 1: 154,277,773 (GRCm39) S2060T possibly damaging Het
Cand2 G A 6: 115,768,220 (GRCm39) C455Y probably damaging Het
Cdh16 T C 8: 105,345,191 (GRCm39) D366G probably damaging Het
Cep170b A G 12: 112,711,152 (GRCm39) R595G probably damaging Het
Chaf1a G A 17: 56,372,184 (GRCm39) R784Q probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clca4a C A 3: 144,660,730 (GRCm39) S698I probably damaging Het
Dnah5 A C 15: 28,289,396 (GRCm39) Y1195S probably benign Het
Dynlt4 A G 4: 116,985,812 (GRCm39) T212A possibly damaging Het
Dysf T C 6: 84,114,308 (GRCm39) I1229T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
F3 A G 3: 121,527,763 (GRCm39) I254V probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 (GRCm39) F270S probably damaging Het
Galnt3 T C 2: 65,928,203 (GRCm39) Y231C probably benign Het
Gm10220 A C 5: 26,322,869 (GRCm39) I181S probably benign Het
Gnb5 G A 9: 75,250,823 (GRCm39) V316I possibly damaging Het
Gys2 A G 6: 142,400,236 (GRCm39) F325S possibly damaging Het
Hmgn2 G A 4: 133,694,668 (GRCm39) probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Iqub A T 6: 24,501,290 (GRCm39) I220N probably damaging Het
Jmjd1c A G 10: 67,085,529 (GRCm39) T2259A probably damaging Het
Kcnq3 T C 15: 66,158,063 (GRCm39) K4R unknown Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
L3mbtl2 G A 15: 81,570,486 (GRCm39) E655K probably benign Het
Lrp1b C T 2: 40,711,731 (GRCm39) C3163Y probably damaging Het
Map3k19 T A 1: 127,750,550 (GRCm39) R934* probably null Het
Map4 A G 9: 109,910,489 (GRCm39) T1061A possibly damaging Het
Mbnl1 G A 3: 60,437,199 (GRCm39) V50I probably damaging Het
Med15 G A 16: 17,492,379 (GRCm39) Q132* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mtmr3 G C 11: 4,447,375 (GRCm39) L361V probably damaging Het
Myo5a A G 9: 75,124,827 (GRCm39) E1792G probably damaging Het
Nup88 C A 11: 70,860,543 (GRCm39) A55S probably damaging Het
Or1ab2 T A 8: 72,864,167 (GRCm39) Y252* probably null Het
Or4a79 T C 2: 89,552,387 (GRCm39) K23E possibly damaging Het
Pacs1 G T 19: 5,193,861 (GRCm39) S556* probably null Het
Parp4 A G 14: 56,827,867 (GRCm39) E206G probably benign Het
Paxbp1 T G 16: 90,812,042 (GRCm39) K889N probably damaging Het
Pcdhga2 G A 18: 37,802,302 (GRCm39) A49T possibly damaging Het
Pcsk6 T A 7: 65,609,014 (GRCm39) L292* probably null Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Plec C A 15: 76,068,269 (GRCm39) Q1142H possibly damaging Het
Pnpla2 T C 7: 141,037,257 (GRCm39) S87P probably damaging Het
Prss28 T C 17: 25,529,079 (GRCm39) V140A probably damaging Het
Rad17 A T 13: 100,769,786 (GRCm39) S258T probably damaging Het
Rnf111 A T 9: 70,336,866 (GRCm39) C932* probably null Het
Sdc2 T C 15: 33,017,278 (GRCm39) Y31H probably damaging Het
Selenoh T C 2: 84,500,675 (GRCm39) E55G possibly damaging Het
Setd1b A G 5: 123,286,679 (GRCm39) E575G unknown Het
Slco1a4 A T 6: 141,765,266 (GRCm39) S325R probably damaging Het
Smtnl1 C A 2: 84,648,787 (GRCm39) V156L possibly damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Speg A G 1: 75,392,039 (GRCm39) D1607G probably damaging Het
Tmem101 T A 11: 102,046,663 (GRCm39) M69L possibly damaging Het
Treh G A 9: 44,597,208 (GRCm39) M542I probably benign Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Ttc6 T C 12: 57,623,441 (GRCm39) I280T probably benign Het
Ubtfl1 A G 9: 18,320,789 (GRCm39) T106A probably damaging Het
Wdr27 T C 17: 15,123,724 (GRCm39) H583R probably benign Het
Xirp2 C T 2: 67,344,241 (GRCm39) P2161S probably damaging Het
Other mutations in Serpina3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Serpina3k APN 12 104,309,369 (GRCm39) missense probably benign 0.36
IGL01402:Serpina3k APN 12 104,306,882 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GCAAAGTCAAGTCCTCTAGGC -3'
(R):5'- TCAGCAATGTAGTTCTCACACATG -3'

Sequencing Primer
(F):5'- TCAAGTCCTCTAGGCATGGATAG -3'
(R):5'- AATGTAGTTCTCACACATGTTCCATC -3'
Posted On 2015-09-24