Incidental Mutation 'R5295:Serpina3c'
ID 405368
Institutional Source Beutler Lab
Gene Symbol Serpina3c
Ensembl Gene ENSMUSG00000066361
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3C
Synonyms Klkbp, Kalbp, 1A1, alpha-1 antiproteinase
MMRRC Submission 042878-MU
Accession Numbers

Genbank: NM_008458; MGI: 102848
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5295 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104146382-104153870 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104148378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 333 (E333G)
Ref Sequence ENSEMBL: ENSMUSP00000082125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085050]
AlphaFold P29621
Predicted Effect probably damaging
Transcript: ENSMUST00000085050
AA Change: E333G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000082125
Gene: ENSMUSG00000066361
AA Change: E333G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 414 1.26e-194 SMART
Meta Mutation Damage Score 0.3478 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,305,038 E1095K probably damaging Het
Alpl T C 4: 137,749,608 T245A probably benign Het
Ank2 T C 3: 127,032,183 H378R probably damaging Het
Arhgef1 G A 7: 24,919,352 probably null Het
Atp5c1 T C 2: 10,068,733 R10G possibly damaging Het
Cbln3 T C 14: 55,883,463 probably null Het
Ccr10 C T 11: 101,174,285 V140M possibly damaging Het
Cep135 T A 5: 76,593,204 H42Q possibly damaging Het
Commd5 C A 15: 76,900,952 T183K possibly damaging Het
Dnajc16 T C 4: 141,767,928 E493G possibly damaging Het
Ears2 T C 7: 122,048,198 R288G probably damaging Het
Elovl4 G A 9: 83,780,661 P273L possibly damaging Het
Fam186b T A 15: 99,283,874 I148F probably damaging Het
Fryl T C 5: 73,112,791 Y79C probably damaging Het
Gad1-ps A G 10: 99,444,889 noncoding transcript Het
Gm14325 G A 2: 177,832,984 H102Y possibly damaging Het
Gm8882 T G 6: 132,361,877 Q126P unknown Het
Ighv1-77 T A 12: 115,861,908 S104C probably damaging Het
Kcnv1 T C 15: 45,114,591 D17G unknown Het
Lmtk3 G A 7: 45,791,298 D243N probably damaging Het
Lrrc7 T A 3: 158,170,739 K571N probably damaging Het
Lsm7 T C 10: 80,854,620 E32G probably damaging Het
Ly6f A G 15: 75,271,639 Q65R probably benign Het
Perm1 T C 4: 156,217,518 L173P probably benign Het
Plvap T C 8: 71,511,670 Q16R probably benign Het
Prl7d1 A T 13: 27,709,247 V227D probably damaging Het
Prss54 T C 8: 95,564,478 T165A probably damaging Het
Psrc1 A G 3: 108,386,359 I195V probably benign Het
Rnf123 AT ATT 9: 108,064,003 probably null Het
Rnf213 A T 11: 119,440,816 T2284S probably benign Het
Serpinb6c A G 13: 33,893,817 F190S probably damaging Het
Sfmbt1 G A 14: 30,774,029 D90N probably damaging Het
Tdh T C 14: 63,496,109 Y110C probably damaging Het
Tdrd9 T A 12: 112,051,912 L1255* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,816,257 probably benign Het
Vps51 T G 19: 6,071,033 E283D probably benign Het
Zbtb2 T C 10: 4,368,508 K506R probably damaging Het
Zmiz1 T C 14: 25,656,347 L800P probably damaging Het
Znhit6 A G 3: 145,600,493 D251G probably benign Het
Other mutations in Serpina3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Serpina3c APN 12 104151939 missense possibly damaging 0.81
IGL03344:Serpina3c APN 12 104147264 missense probably benign
N/A:Serpina3c UTSW 12 104149605 missense probably benign 0.04
R0792:Serpina3c UTSW 12 104151546 missense probably damaging 1.00
R1522:Serpina3c UTSW 12 104151546 missense probably damaging 1.00
R1875:Serpina3c UTSW 12 104151886 missense probably damaging 1.00
R2168:Serpina3c UTSW 12 104149369 splice site probably null
R2207:Serpina3c UTSW 12 104151498 missense probably benign 0.00
R2887:Serpina3c UTSW 12 104147290 missense probably benign 0.03
R5115:Serpina3c UTSW 12 104147392 missense probably damaging 1.00
R5159:Serpina3c UTSW 12 104149512 missense possibly damaging 0.71
R5275:Serpina3c UTSW 12 104148378 missense probably damaging 1.00
R5389:Serpina3c UTSW 12 104149440 missense possibly damaging 0.85
R5908:Serpina3c UTSW 12 104151711 missense probably benign 0.29
R6151:Serpina3c UTSW 12 104152068 missense possibly damaging 0.90
R6182:Serpina3c UTSW 12 104149431 missense probably benign 0.04
R6608:Serpina3c UTSW 12 104149624 missense probably benign 0.07
R6615:Serpina3c UTSW 12 104151721 missense possibly damaging 0.71
R6751:Serpina3c UTSW 12 104151500 missense probably damaging 1.00
R6777:Serpina3c UTSW 12 104151810 missense probably benign 0.26
R7232:Serpina3c UTSW 12 104149512 missense possibly damaging 0.71
R8129:Serpina3c UTSW 12 104151797 missense probably damaging 0.97
R9310:Serpina3c UTSW 12 104149554 missense probably benign 0.03
R9761:Serpina3c UTSW 12 104151830 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGCTCCTAGGTGAGCTAATG -3'
(R):5'- TTTGTGGAGAGGAGACCCAG -3'

Sequencing Primer
(F):5'- CTCCTAGGTGAGCTAATGTACAG -3'
(R):5'- ACCCAGCGACATGGTTGATTG -3'
Posted On 2016-07-22