Incidental Mutation 'R2970:Serpina3n'
| ID |
255223 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2970 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104372988-104380588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104375333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 135
(T135M)
|
| 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: T135M
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: T135M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
7.64e-194 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
G |
1: 38,574,103 (GRCm39) |
S253P |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
| Ccdc186 |
T |
G |
19: 56,795,430 (GRCm39) |
N416H |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,897,593 (GRCm39) |
I152F |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,881,472 (GRCm39) |
S206P |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nipbl |
C |
A |
15: 8,340,723 (GRCm39) |
C1999F |
probably damaging |
Het |
| Or10d4c |
T |
C |
9: 39,558,195 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,806,454 (GRCm39) |
I289T |
possibly damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,528,275 (GRCm39) |
L1315R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,555,118 (GRCm39) |
T411A |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,405 (GRCm39) |
I175V |
probably benign |
Het |
| Slc10a5 |
C |
A |
3: 10,400,127 (GRCm39) |
G178W |
probably damaging |
Het |
| Spam1 |
A |
T |
6: 24,796,724 (GRCm39) |
N225I |
probably damaging |
Het |
| St7 |
A |
T |
6: 17,844,908 (GRCm39) |
E132V |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,798 (GRCm39) |
S938N |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,310 (GRCm39) |
K81R |
possibly damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,163 (GRCm39) |
L72P |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,641 (GRCm39) |
T16A |
possibly damaging |
Het |
|
| Other mutations in Serpina3n |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Serpina3n
|
APN |
12 |
104,378,604 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTACAAGGAGCTGGTTTTGAAG -3'
(R):5'- TTGATCATCCCCTGGGTCTG -3'
Sequencing Primer
(F):5'- TACAAGGAGCTGGTTTTGAAGAATCC -3'
(R):5'- GTTTCCTCACATAGTCATTGATGAGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation