Incidental Mutation 'R6343:Serpina3k'
ID514019
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
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R6343 (G1)
Quality Score225.009
Status Validated
Chromosome12
Chromosomal Location104338486-104346144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 104345303 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Alanine at position 380 (G380A)
Ref Sequence ENSEMBL: ENSMUSP00000042095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]
Predicted Effect probably benign
Transcript: ENSMUST00000043058
AA Change: G380A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: G380A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,314,552 L301Q probably damaging Het
Adgrl4 T C 3: 151,517,806 L632P probably damaging Het
Cacna2d1 T A 5: 16,322,564 I539N probably benign Het
Camta1 T A 4: 151,079,849 H314L probably damaging Het
Car2 T C 3: 14,887,965 S56P probably damaging Het
Chrm5 G A 2: 112,479,448 A441V probably damaging Het
Ckap5 T A 2: 91,596,474 N1380K possibly damaging Het
Cspg4 T C 9: 56,892,692 V1580A probably benign Het
Dcc A G 18: 71,336,035 L1099P probably damaging Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Epha5 A T 5: 84,106,747 H644Q probably damaging Het
Eya3 T C 4: 132,672,910 I80T probably damaging Het
Fdft1 A T 14: 63,151,272 Y304N probably damaging Het
Fiz1 C T 7: 5,008,401 A373T possibly damaging Het
Gpatch2l T A 12: 86,260,605 Y252* probably null Het
Hivep1 G T 13: 42,159,671 G1796* probably null Het
Irf8 T C 8: 120,753,707 V228A probably damaging Het
Islr A C 9: 58,157,096 V376G probably damaging Het
Kdm5a T C 6: 120,382,933 V230A probably benign Het
Lpgat1 A G 1: 191,776,572 probably null Het
Lrp8 T C 4: 107,869,156 probably null Het
Lyzl4 A C 9: 121,578,084 S127A possibly damaging Het
Map4k1 T C 7: 29,000,290 V606A possibly damaging Het
Mau2 T A 8: 70,031,523 K138N probably damaging Het
Meikin T C 11: 54,370,766 L33P probably damaging Het
Mrpl28 T C 17: 26,126,278 V224A probably benign Het
Ncdn T C 4: 126,747,171 D512G possibly damaging Het
Nlrp2 T A 7: 5,300,926 Q200L possibly damaging Het
Nup98 T C 7: 102,194,750 N89S possibly damaging Het
Ogfrl1 T G 1: 23,369,863 K427N probably benign Het
Olfr1448 G T 19: 12,919,582 H242Q probably damaging Het
Olfr304 T A 7: 86,385,851 R270* probably null Het
Olfr551 A G 7: 102,588,546 C66R probably damaging Het
Olfr770 A T 10: 129,133,666 L34* probably null Het
Padi3 C T 4: 140,803,508 V68I possibly damaging Het
Pign A T 1: 105,585,095 M621K probably benign Het
Pigv C T 4: 133,665,236 V208M probably damaging Het
Ripk4 A G 16: 97,763,526 probably null Het
Rsf1 A G 7: 97,660,917 K285E probably benign Het
Sorbs1 A G 19: 40,376,982 probably null Het
Srrd G C 5: 112,340,000 A104G probably benign Het
Tbp T A 17: 15,501,089 probably null Het
Tecrl G A 5: 83,294,600 H209Y probably damaging Het
Tmprss11c A G 5: 86,256,345 L157P probably damaging Het
Tmprss13 A T 9: 45,343,200 T422S possibly damaging Het
Ttll5 A G 12: 85,956,699 H1103R probably benign Het
Urb2 G T 8: 124,031,125 E1190D probably damaging Het
Vldlr A G 19: 27,245,649 Y699C probably damaging Het
Vmn1r22 T G 6: 57,900,578 N138T possibly 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
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
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'- ACACCCTGAGCAGAGACTTG -3'
(R):5'- CCATATGCAGACTCTGTCCC -3'

Sequencing Primer
(F):5'- CTTGGGAAATGCAGGATTAGAGCC -3'
(R):5'- CAGAGCCCTGGACAGAATCATG -3'
Posted On2018-04-27