Incidental Mutation 'R4008:Serpina3a'
ID |
311575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina3a
|
Ensembl Gene |
ENSMUSG00000041536 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3A |
Synonyms |
4933406L18Rik, alpha-1 antiproteinase,, antitrypsin |
MMRRC Submission |
040946-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4008 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104084902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 99
(D99V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021496]
[ENSMUST00000109965]
[ENSMUST00000185595]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021496
AA Change: D289V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021496 Gene: ENSMUSG00000041536 AA Change: D289V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109965
AA Change: D99V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105591 Gene: ENSMUSG00000041536 AA Change: D99V
Domain | Start | End | E-Value | Type |
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185595
AA Change: D289V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140024 Gene: ENSMUSG00000041536 AA Change: D289V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
Batf2 |
G |
A |
19: 6,221,378 (GRCm39) |
E63K |
probably damaging |
Het |
Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
Clvs2 |
G |
A |
10: 33,419,458 (GRCm39) |
H199Y |
probably damaging |
Het |
F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
H2-K2 |
G |
A |
17: 34,218,525 (GRCm39) |
|
probably benign |
Het |
Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
Larp7 |
T |
C |
3: 127,334,519 (GRCm39) |
D490G |
probably benign |
Het |
Map9 |
T |
C |
3: 82,266,390 (GRCm39) |
Y12H |
probably damaging |
Het |
Mn1 |
G |
T |
5: 111,568,035 (GRCm39) |
E668D |
probably benign |
Het |
Mrps18c |
T |
C |
5: 100,950,982 (GRCm39) |
|
probably benign |
Het |
Npdc1 |
T |
A |
2: 25,298,992 (GRCm39) |
Y237* |
probably null |
Het |
Oprm1 |
A |
G |
10: 6,782,520 (GRCm39) |
M388V |
probably benign |
Het |
Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
Or4n5 |
A |
G |
14: 50,132,464 (GRCm39) |
L265P |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
Pwp1 |
A |
G |
10: 85,717,898 (GRCm39) |
T279A |
possibly damaging |
Het |
Rabep2 |
C |
A |
7: 126,044,546 (GRCm39) |
D547E |
probably damaging |
Het |
Rbm34 |
T |
C |
8: 127,676,037 (GRCm39) |
K426R |
probably benign |
Het |
Rgs14 |
T |
G |
13: 55,517,726 (GRCm39) |
L8V |
probably damaging |
Het |
Ripor2 |
A |
G |
13: 24,880,521 (GRCm39) |
H407R |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,456,928 (GRCm39) |
F603L |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,256,465 (GRCm39) |
S244P |
probably benign |
Het |
St3gal3 |
T |
C |
4: 117,797,637 (GRCm39) |
I252V |
probably benign |
Het |
Tars3 |
T |
A |
7: 65,327,876 (GRCm39) |
D528E |
probably damaging |
Het |
Try10 |
A |
G |
6: 41,333,608 (GRCm39) |
T118A |
probably benign |
Het |
Tshr |
C |
T |
12: 91,504,268 (GRCm39) |
S402L |
probably benign |
Het |
|
Other mutations in Serpina3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Serpina3a
|
APN |
12 |
104,087,758 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02003:Serpina3a
|
APN |
12 |
104,082,259 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02379:Serpina3a
|
APN |
12 |
104,084,919 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02547:Serpina3a
|
APN |
12 |
104,082,802 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02593:Serpina3a
|
APN |
12 |
104,084,691 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02730:Serpina3a
|
APN |
12 |
104,085,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02953:Serpina3a
|
APN |
12 |
104,082,748 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03197:Serpina3a
|
APN |
12 |
104,082,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Serpina3a
|
UTSW |
12 |
104,082,787 (GRCm39) |
nonsense |
probably null |
|
R1635:Serpina3a
|
UTSW |
12 |
104,082,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R1804:Serpina3a
|
UTSW |
12 |
104,084,675 (GRCm39) |
splice site |
probably benign |
|
R1867:Serpina3a
|
UTSW |
12 |
104,084,886 (GRCm39) |
missense |
probably benign |
0.01 |
R1888:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
R1888:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
R2110:Serpina3a
|
UTSW |
12 |
104,082,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R2111:Serpina3a
|
UTSW |
12 |
104,082,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R2305:Serpina3a
|
UTSW |
12 |
104,082,787 (GRCm39) |
missense |
probably benign |
0.05 |
R2326:Serpina3a
|
UTSW |
12 |
104,082,758 (GRCm39) |
missense |
probably benign |
0.01 |
R2405:Serpina3a
|
UTSW |
12 |
104,087,577 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4010:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R4011:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R4079:Serpina3a
|
UTSW |
12 |
104,085,934 (GRCm39) |
nonsense |
probably null |
|
R4091:Serpina3a
|
UTSW |
12 |
104,082,625 (GRCm39) |
missense |
probably benign |
0.01 |
R4092:Serpina3a
|
UTSW |
12 |
104,082,625 (GRCm39) |
missense |
probably benign |
0.01 |
R4210:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R5064:Serpina3a
|
UTSW |
12 |
104,082,448 (GRCm39) |
missense |
probably benign |
0.01 |
R6242:Serpina3a
|
UTSW |
12 |
104,082,260 (GRCm39) |
missense |
probably benign |
0.10 |
R6337:Serpina3a
|
UTSW |
12 |
104,079,137 (GRCm39) |
missense |
probably benign |
0.36 |
R6395:Serpina3a
|
UTSW |
12 |
104,082,710 (GRCm39) |
missense |
probably damaging |
0.99 |
R6683:Serpina3a
|
UTSW |
12 |
104,085,896 (GRCm39) |
missense |
probably benign |
0.16 |
R6994:Serpina3a
|
UTSW |
12 |
104,079,089 (GRCm39) |
splice site |
probably null |
|
R7117:Serpina3a
|
UTSW |
12 |
104,082,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8104:Serpina3a
|
UTSW |
12 |
104,079,110 (GRCm39) |
start gained |
probably benign |
|
R8131:Serpina3a
|
UTSW |
12 |
104,082,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9042:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
R9089:Serpina3a
|
UTSW |
12 |
104,085,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9141:Serpina3a
|
UTSW |
12 |
104,087,649 (GRCm39) |
missense |
probably benign |
0.00 |
R9426:Serpina3a
|
UTSW |
12 |
104,087,649 (GRCm39) |
missense |
probably benign |
0.00 |
R9564:Serpina3a
|
UTSW |
12 |
104,084,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCCTGAAGACACGTTCC -3'
(R):5'- AGGAGGGAAATTCAACTCAACTC -3'
Sequencing Primer
(F):5'- GACACGTTCCTGGGAAATTTCAC -3'
(R):5'- GGGAAATTCAACTCAACTCTATCTG -3'
|
Posted On |
2015-04-29 |