Incidental Mutation 'IGL02547:Serpina3a'
| ID |
297864 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina3a
|
| Ensembl Gene |
ENSMUSG00000041536 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3A |
| Synonyms |
4933406L18Rik, alpha-1 antiproteinase,, antitrypsin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104082802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 192
(I192V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021496]
[ENSMUST00000109965]
[ENSMUST00000185595]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021496
AA Change: I192V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: I192V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185595
AA Change: I192V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: I192V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,187,479 (GRCm39) |
L1631H |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,580,274 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,725,849 (GRCm39) |
Y48N |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,886,640 (GRCm39) |
M656R |
probably benign |
Het |
| Camkk1 |
A |
G |
11: 72,929,259 (GRCm39) |
R455G |
probably benign |
Het |
| Casr |
A |
T |
16: 36,336,036 (GRCm39) |
M91K |
probably benign |
Het |
| Ccdc28a |
A |
T |
10: 18,089,894 (GRCm39) |
V124D |
possibly damaging |
Het |
| Ccnh |
T |
C |
13: 85,350,623 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
G |
T |
9: 21,051,262 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,950 (GRCm39) |
D868G |
probably damaging |
Het |
| Cstdc3 |
A |
T |
16: 36,132,888 (GRCm39) |
|
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,919,229 (GRCm39) |
R351G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,091 (GRCm39) |
I545T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,787,478 (GRCm39) |
M798V |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,556,261 (GRCm39) |
Q200L |
probably damaging |
Het |
| Ica1 |
T |
C |
6: 8,670,691 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
A |
9: 54,499,679 (GRCm39) |
V31D |
probably benign |
Het |
| Il3ra |
A |
T |
14: 14,351,970 (GRCm38) |
T247S |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,126,945 (GRCm39) |
C497R |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,182 (GRCm39) |
Y166H |
probably damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,909,941 (GRCm39) |
D98G |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,561,650 (GRCm39) |
R29G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,078,742 (GRCm39) |
T142S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,381,082 (GRCm39) |
T570I |
probably benign |
Het |
| Nr5a2 |
T |
A |
1: 136,868,665 (GRCm39) |
M196L |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,219,512 (GRCm39) |
F643L |
probably benign |
Het |
| Or52ad1 |
A |
G |
7: 102,995,451 (GRCm39) |
F228S |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,331,973 (GRCm39) |
I16T |
probably benign |
Het |
| Or5a3 |
A |
T |
19: 12,399,675 (GRCm39) |
M1L |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,372 (GRCm39) |
F168S |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,925,680 (GRCm39) |
W446* |
probably null |
Het |
| Pced1a |
T |
C |
2: 130,261,627 (GRCm39) |
D342G |
possibly damaging |
Het |
| Pira13 |
T |
C |
7: 3,824,660 (GRCm39) |
D573G |
probably damaging |
Het |
| Prkcd |
C |
A |
14: 30,321,426 (GRCm39) |
W555L |
probably damaging |
Het |
| Prpf31 |
T |
C |
7: 3,633,898 (GRCm39) |
S78P |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,553 (GRCm39) |
T285A |
probably benign |
Het |
| Retreg3 |
A |
T |
11: 100,997,204 (GRCm39) |
L92* |
probably null |
Het |
| Rmdn1 |
A |
G |
4: 19,605,501 (GRCm39) |
K282E |
possibly damaging |
Het |
| Septin8 |
G |
T |
11: 53,428,092 (GRCm39) |
R302L |
probably damaging |
Het |
| Sgce |
T |
C |
6: 4,711,301 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,936,116 (GRCm39) |
L323Q |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,785,743 (GRCm39) |
|
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,850,100 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,559,730 (GRCm39) |
V21230A |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,836,895 (GRCm39) |
D41A |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,815,301 (GRCm39) |
I979S |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,857,531 (GRCm39) |
H683Q |
probably benign |
Het |
| Zfp1007 |
C |
T |
5: 109,826,628 (GRCm39) |
|
probably null |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,846 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R4008:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation