Incidental Mutation 'IGL00534:Serpina3n'
| ID |
4365 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina3n
|
| Ensembl Gene |
ENSMUSG00000021091 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
| Synonyms |
antitrypsin, Spi2/eb.4, alpha-1 antiproteinase, Spi2-2, Spi2.2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104372988-104380588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104378604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 308
(E308G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021506]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021506
AA Change: E308G
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: E308G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
7.64e-194 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsj |
G |
T |
3: 126,158,594 (GRCm39) |
A58S |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,150 (GRCm39) |
S2148T |
probably benign |
Het |
| Esd |
T |
C |
14: 74,975,901 (GRCm39) |
V34A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,553 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
A |
9: 61,967,765 (GRCm39) |
T462M |
probably damaging |
Het |
| Gm382 |
A |
G |
X: 125,971,238 (GRCm39) |
Y1141C |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,479,021 (GRCm39) |
I76N |
probably damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,562 (GRCm39) |
E143G |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,958,215 (GRCm39) |
T153A |
probably damaging |
Het |
| Irs1 |
A |
G |
1: 82,266,192 (GRCm39) |
S675P |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,362,719 (GRCm39) |
H573Q |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,055 (GRCm39) |
E237G |
possibly damaging |
Het |
| Map2k4 |
C |
A |
11: 65,610,305 (GRCm39) |
|
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,574,437 (GRCm39) |
|
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,958 (GRCm39) |
L136P |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,272,420 (GRCm39) |
M158K |
possibly damaging |
Het |
| Sgo2a |
T |
A |
1: 58,055,503 (GRCm39) |
N562K |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,545 (GRCm39) |
Y264C |
probably damaging |
Het |
| Snx27 |
G |
A |
3: 94,469,279 (GRCm39) |
H21Y |
probably damaging |
Het |
|
| Other mutations in Serpina3n |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01930:Serpina3n
|
APN |
12 |
104,375,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Serpina3n
|
APN |
12 |
104,379,750 (GRCm39) |
missense |
probably benign |
|
|
IGL02419:Serpina3n
|
APN |
12 |
104,379,777 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0098:Serpina3n
|
UTSW |
12 |
104,379,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Serpina3n
|
UTSW |
12 |
104,379,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Serpina3n
|
UTSW |
12 |
104,377,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1872:Serpina3n
|
UTSW |
12 |
104,375,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1879:Serpina3n
|
UTSW |
12 |
104,375,213 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2018:Serpina3n
|
UTSW |
12 |
104,375,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2315:Serpina3n
|
UTSW |
12 |
104,378,627 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2968:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2969:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2970:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3409:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3410:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3411:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4030:Serpina3n
|
UTSW |
12 |
104,377,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4388:Serpina3n
|
UTSW |
12 |
104,377,616 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4659:Serpina3n
|
UTSW |
12 |
104,379,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4728:Serpina3n
|
UTSW |
12 |
104,375,422 (GRCm39) |
missense |
probably benign |
|
|
R4783:Serpina3n
|
UTSW |
12 |
104,375,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5001:Serpina3n
|
UTSW |
12 |
104,374,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5983:Serpina3n
|
UTSW |
12 |
104,375,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Serpina3n
|
UTSW |
12 |
104,375,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7001:Serpina3n
|
UTSW |
12 |
104,375,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Serpina3n
|
UTSW |
12 |
104,377,656 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9142:Serpina3n
|
UTSW |
12 |
104,379,710 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9180:Serpina3n
|
UTSW |
12 |
104,377,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9478:Serpina3n
|
UTSW |
12 |
104,378,672 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0027:Serpina3n
|
UTSW |
12 |
104,377,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Serpina3n
|
UTSW |
12 |
104,377,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation