Incidental Mutation 'N/A:Serpina3c'
ID 34
Institutional Source Beutler Lab
Gene Symbol Serpina3c
Ensembl Gene ENSMUSG00000066361
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3C
Synonyms 1A1, Klkbp, alpha-1 antiproteinase, Kalbp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # N/A of strain 294
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 104113166-104120187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 104115864 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Serine to Alanine at position 227 (S227A)
Ref Sequence ENSEMBL: ENSMUSP00000082125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085050]
AlphaFold P29621
Predicted Effect probably benign
Transcript: ENSMUST00000085050
AA Change: S227A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000082125
Gene: ENSMUSG00000066361
AA Change: S227A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 414 1.26e-194 SMART
Meta Mutation Damage Score 0.1633 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 76.0%
Validation Efficiency 91% (106/116)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016P04Rik T A 6: 13,415,772 (GRCm39) noncoding transcript Homo
Aif1 A G 17: 35,391,496 (GRCm39) L7S possibly damaging Homo
Ankrd26 T C 6: 118,506,535 (GRCm39) D646G probably benign Homo
Cacna1s A G 1: 136,001,247 (GRCm39) I233V probably benign Homo
Cfap92 A T 6: 87,667,773 (GRCm39) noncoding transcript Homo
Chchd4 T C 6: 91,442,187 (GRCm39) Y77C probably damaging Homo
Crocc G A 4: 140,749,057 (GRCm39) R1419C probably damaging Homo
Cyp4f39 A C 17: 32,687,655 (GRCm39) M74L probably benign Homo
Fgf9 C A 14: 58,327,421 (GRCm39) probably benign Homo
Gimap6 T C 6: 48,679,349 (GRCm39) D229G probably damaging Homo
Glp1r T C 17: 31,150,257 (GRCm39) F393S probably damaging Homo
Lrrc7 T G 3: 157,865,977 (GRCm39) I1255L probably benign Homo
Mtrr C A 13: 68,723,516 (GRCm39) probably benign Homo
Pde6b A T 5: 108,576,969 (GRCm39) probably benign Homo
Rbm19 A T 5: 120,282,162 (GRCm39) I840F probably damaging Homo
Spag17 G A 3: 99,889,570 (GRCm39) probably benign Homo
Spmip3 G A 1: 177,561,100 (GRCm39) R13H probably damaging Homo
Zbtb8b T C 4: 129,326,361 (GRCm39) D268G probably benign Homo
Other mutations in Serpina3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Serpina3c APN 12 104,118,198 (GRCm39) missense possibly damaging 0.81
IGL03344:Serpina3c APN 12 104,113,523 (GRCm39) missense probably benign
R0792:Serpina3c UTSW 12 104,117,805 (GRCm39) missense probably damaging 1.00
R1522:Serpina3c UTSW 12 104,117,805 (GRCm39) missense probably damaging 1.00
R1875:Serpina3c UTSW 12 104,118,145 (GRCm39) missense probably damaging 1.00
R2168:Serpina3c UTSW 12 104,115,628 (GRCm39) splice site probably null
R2207:Serpina3c UTSW 12 104,117,757 (GRCm39) missense probably benign 0.00
R2887:Serpina3c UTSW 12 104,113,549 (GRCm39) missense probably benign 0.03
R5115:Serpina3c UTSW 12 104,113,651 (GRCm39) missense probably damaging 1.00
R5159:Serpina3c UTSW 12 104,115,771 (GRCm39) missense possibly damaging 0.71
R5275:Serpina3c UTSW 12 104,114,637 (GRCm39) missense probably damaging 1.00
R5295:Serpina3c UTSW 12 104,114,637 (GRCm39) missense probably damaging 1.00
R5389:Serpina3c UTSW 12 104,115,699 (GRCm39) missense possibly damaging 0.85
R5908:Serpina3c UTSW 12 104,117,970 (GRCm39) missense probably benign 0.29
R6151:Serpina3c UTSW 12 104,118,327 (GRCm39) missense possibly damaging 0.90
R6182:Serpina3c UTSW 12 104,115,690 (GRCm39) missense probably benign 0.04
R6608:Serpina3c UTSW 12 104,115,883 (GRCm39) missense probably benign 0.07
R6615:Serpina3c UTSW 12 104,117,980 (GRCm39) missense possibly damaging 0.71
R6751:Serpina3c UTSW 12 104,117,759 (GRCm39) missense probably damaging 1.00
R6777:Serpina3c UTSW 12 104,118,069 (GRCm39) missense probably benign 0.26
R7232:Serpina3c UTSW 12 104,115,771 (GRCm39) missense possibly damaging 0.71
R8129:Serpina3c UTSW 12 104,118,056 (GRCm39) missense probably damaging 0.97
R9310:Serpina3c UTSW 12 104,115,813 (GRCm39) missense probably benign 0.03
R9761:Serpina3c UTSW 12 104,118,089 (GRCm39) missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to G transversion at position 790 of the Serpina3c transcript, in exon 3 of 5 total exons. The mutated nucleotide causes a serine to alanine substitution at amino acid 227 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Serpina3c encodes a 417 amino acid serine protease inhibitor known as Serpin A3C. Serpins are typically secreted, and Serpin A3C contains a signal peptide at amino acids 1-22. The reactive center loop (RCL) of the protein (residues 367-392) directs binding to the target protease, which cleaves the serpin at the reactive site within the RCL and establishes a covalent linkage between the serpin reactive site and the protease. Serpin A3C is one of 14 mouse paralogs of the human SERPINA3 protein (Uniprot P29621). 
 
The S227A change is predicted to be probably benign by the PolyPhen program. 
Posted On 2009-11-11