Incidental Mutation 'IGL03344:Serpina3c'
ID |
417366 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03344
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104113166-104120187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104113523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 408
(I408V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085050]
|
AlphaFold |
P29621 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085050
AA Change: I408V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000082125 Gene: ENSMUSG00000066361 AA Change: I408V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
414 |
1.26e-194 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,376,065 (GRCm39) |
N47D |
probably damaging |
Het |
Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
Chtf8 |
G |
A |
8: 107,612,904 (GRCm39) |
P12S |
probably damaging |
Het |
Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
Deaf1 |
A |
T |
7: 140,877,461 (GRCm39) |
H555Q |
probably benign |
Het |
Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,482 (GRCm39) |
D121G |
possibly damaging |
Het |
Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
Spart |
T |
C |
3: 55,029,106 (GRCm39) |
M299T |
probably benign |
Het |
Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
Vegfc |
T |
A |
8: 54,610,186 (GRCm39) |
I114N |
possibly damaging |
Het |
Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
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 |
N/A:Serpina3c
|
UTSW |
12 |
104,115,864 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
|
Posted On |
2016-08-02 |