Incidental Mutation 'R4577:Serpina3k'
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ID342572
Institutional Source Beutler Lab
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: 0.066) question?
Stock #R4577 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location104338486-104346144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 104344192 bp
ZygosityHeterozygous
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]
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
6430531B16Rik A G 7: 139,978,130 I51T probably damaging Het
Abca1 C A 4: 53,062,568 C1429F possibly damaging Het
Acacb A G 5: 114,226,831 E1524G probably damaging Het
Ankrd50 A G 3: 38,455,941 V759A probably damaging Het
Ano9 T C 7: 141,104,138 Q538R probably damaging Het
Bnip2 A G 9: 69,997,162 D67G probably benign Het
Cacna1e A T 1: 154,402,027 S2060T possibly damaging Het
Cand2 G A 6: 115,791,259 C455Y probably damaging Het
Cdh16 T C 8: 104,618,559 D366G probably damaging Het
Cep170b A G 12: 112,744,718 R595G probably damaging Het
Chaf1a G A 17: 56,065,184 R784Q probably damaging Het
Clca4a C A 3: 144,954,969 S698I probably damaging Het
Dnah5 A C 15: 28,289,250 Y1195S probably benign Het
Dysf T C 6: 84,137,326 I1229T probably damaging Het
Eef2 GCCC GCCCC 10: 81,178,767 probably null Het
Ep300 T C 15: 81,649,009 S1756P unknown Het
Ep300 T A 15: 81,611,410 probably benign Het
F3 A G 3: 121,734,114 I254V probably benign Het
Fam166a T C 2: 25,220,288 S71P probably benign Het
Frmd4a C A 2: 4,603,679 A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 F270S probably damaging Het
Galnt3 T C 2: 66,097,859 Y231C probably benign Het
Gm10220 A C 5: 26,117,871 I181S probably benign Het
Gm13178 A C 4: 144,703,753 I222S probably damaging Het
Gnb5 G A 9: 75,343,541 V316I possibly damaging Het
Gys2 A G 6: 142,454,510 F325S possibly damaging Het
Hmgn2 G A 4: 133,967,357 probably benign Het
Hsph1 A G 5: 149,618,843 V705A probably benign Het
Ighg2b T C 12: 113,306,892 E206G unknown Het
Iqub A T 6: 24,501,291 I220N probably damaging Het
Jmjd1c A G 10: 67,249,750 T2259A probably damaging Het
Kcnq3 T C 15: 66,286,214 K4R unknown Het
Klk12 A G 7: 43,773,243 D198G probably damaging Het
L3mbtl2 G A 15: 81,686,285 E655K probably benign Het
Lrp1b C T 2: 40,821,719 C3163Y probably damaging Het
Map3k19 T A 1: 127,822,813 R934* probably null Het
Map4 A G 9: 110,081,421 T1061A possibly damaging Het
Mbnl1 G A 3: 60,529,778 V50I probably damaging Het
Med15 G A 16: 17,674,515 Q132* probably null Het
Mef2a T C 7: 67,240,439 N131S probably benign Het
Mtmr3 G C 11: 4,497,375 L361V probably damaging Het
Myo5a A G 9: 75,217,545 E1792G probably damaging Het
Nup88 C A 11: 70,969,717 A55S probably damaging Het
Olfr1252 T C 2: 89,722,043 K23E possibly damaging Het
Olfr374 T A 8: 72,110,323 Y252* probably null Het
Pacs1 G T 19: 5,143,833 S556* probably null Het
Parp4 A G 14: 56,590,410 E206G probably benign Het
Paxbp1 T G 16: 91,015,154 K889N probably damaging Het
Pcdhga2 G A 18: 37,669,249 A49T possibly damaging Het
Pcsk6 T A 7: 65,959,266 L292* probably null Het
Plb1 C T 5: 32,247,557 Q20* probably null Het
Plec C A 15: 76,184,069 Q1142H possibly damaging Het
Pnpla2 T C 7: 141,457,344 S87P probably damaging Het
Prss28 T C 17: 25,310,105 V140A probably damaging Het
Rad17 A T 13: 100,633,278 S258T probably damaging Het
Rnf111 A T 9: 70,429,584 C932* probably null Het
Sdc2 T C 15: 33,017,132 Y31H probably damaging Het
Selenoh T C 2: 84,670,331 E55G possibly damaging Het
Setd1b A G 5: 123,148,616 E575G unknown Het
Slco1a4 A T 6: 141,819,540 S325R probably damaging Het
Smtnl1 C A 2: 84,818,443 V156L possibly damaging Het
Speg A G 1: 75,415,395 D1607G probably damaging Het
Tctex1d4 A G 4: 117,128,615 T212A possibly damaging Het
Tmem101 T A 11: 102,155,837 M69L possibly damaging Het
Treh G A 9: 44,685,911 M542I probably benign Het
Trim30b T C 7: 104,357,331 Y106C possibly damaging Het
Ttc6 T C 12: 57,576,655 I280T probably benign Het
Ubtfl1 A G 9: 18,409,493 T106A probably damaging Het
Wdr27 T C 17: 14,903,462 H583R probably benign Het
Xirp2 C T 2: 67,513,897 P2161S 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
IGL01404: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
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
Predicted Primers PCR Primer
(F):5'- GCAAAGTCAAGTCCTCTAGGC -3'
(R):5'- TCAGCAATGTAGTTCTCACACATG -3'

Sequencing Primer
(F):5'- TCAAGTCCTCTAGGCATGGATAG -3'
(R):5'- AATGTAGTTCTCACACATGTTCCATC -3'
Posted On2015-09-24