Incidental Mutation 'R5983:Serpina3n'
| ID |
481531 |
| 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 |
| MMRRC Submission |
044164-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104372988-104380588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104375288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 120
(L120P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021506]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021506
AA Change: L120P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: L120P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
7.64e-194 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,807,942 (GRCm39) |
M861K |
probably benign |
Het |
| Abhd18 |
T |
A |
3: 40,864,979 (GRCm39) |
F73L |
probably damaging |
Het |
| Abraxas1 |
A |
G |
5: 100,955,777 (GRCm39) |
V237A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,378 (GRCm39) |
Y208C |
probably damaging |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Bach2 |
A |
T |
4: 32,563,324 (GRCm39) |
E597V |
probably damaging |
Het |
| Ccdc170 |
A |
T |
10: 4,470,851 (GRCm39) |
R232* |
probably null |
Het |
| Cfap100 |
A |
C |
6: 90,396,373 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
G |
A |
16: 48,136,204 (GRCm39) |
M185I |
probably benign |
Het |
| Ecsit |
C |
T |
9: 21,989,443 (GRCm39) |
|
probably null |
Het |
| Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,760,220 (GRCm39) |
K370R |
probably benign |
Het |
| Ide |
C |
T |
19: 37,249,549 (GRCm39) |
|
probably null |
Het |
| Katnip |
T |
A |
7: 125,449,545 (GRCm39) |
W870R |
probably damaging |
Het |
| Morn3 |
T |
C |
5: 123,175,851 (GRCm39) |
D179G |
possibly damaging |
Het |
| Nkapd1 |
A |
G |
9: 50,519,142 (GRCm39) |
S157P |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,964,471 (GRCm39) |
D102E |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,276,467 (GRCm39) |
I10F |
probably benign |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rsph9 |
A |
G |
17: 46,440,406 (GRCm39) |
M230T |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,442,648 (GRCm39) |
V1565M |
probably damaging |
Het |
| Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Tmem147 |
T |
C |
7: 30,427,484 (GRCm39) |
D111G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,572,725 (GRCm39) |
V17729A |
possibly damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,261,970 (GRCm39) |
P387S |
probably damaging |
Het |
| Zfp940 |
C |
T |
7: 29,544,477 (GRCm39) |
V477M |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,988,745 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGGCCTCCATCAACACTGAC -3'
(R):5'- GGGTCTGTTTCCTCACATAGTC -3'
Sequencing Primer
(F):5'- CTACAAGGAGCTGGTTTTGAAGAATC -3'
(R):5'- TCCTCACATAGTCATTGATGAGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation