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)
|
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
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
414 |
1.26e-194 |
SMART |
|
Meta Mutation Damage Score |
0.1633 |
Coding Region Coverage |
|
Validation Efficiency |
91% (106/116) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |