Incidental Mutation 'IGL02593:Serpina3a'
| ID |
299798 |
| 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 # |
IGL02593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104084691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 29
(V29L)
|
| 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: V219L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: V219L
| 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: V29L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: V29L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185595
AA Change: V219L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: V219L
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
G |
T |
16: 22,711,078 (GRCm39) |
|
probably null |
Het |
| Bbs4 |
C |
T |
9: 59,235,880 (GRCm39) |
D232N |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,301,774 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,833,504 (GRCm39) |
N554S |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,641,591 (GRCm39) |
I1652V |
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,634 (GRCm39) |
|
probably benign |
Het |
| Idh3a |
T |
A |
9: 54,503,477 (GRCm39) |
|
probably benign |
Het |
| Jph2 |
T |
C |
2: 163,239,166 (GRCm39) |
Y94C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,969,825 (GRCm39) |
S238P |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,498,235 (GRCm39) |
I56V |
possibly damaging |
Het |
| Myo9b |
A |
C |
8: 71,743,417 (GRCm39) |
E159D |
probably damaging |
Het |
| Nkiras1 |
A |
G |
14: 18,278,475 (GRCm38) |
N63S |
possibly damaging |
Het |
| Nnmt |
A |
G |
9: 48,516,103 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
G |
A |
7: 140,073,244 (GRCm39) |
R231H |
probably benign |
Het |
| P2ry10 |
T |
C |
X: 106,146,302 (GRCm39) |
I79T |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,153 (GRCm39) |
H647R |
probably damaging |
Het |
| Pate10 |
T |
A |
9: 35,653,438 (GRCm39) |
C81S |
possibly damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,628,037 (GRCm39) |
D166G |
probably benign |
Het |
| Scml2 |
T |
C |
X: 159,970,305 (GRCm39) |
V125A |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,863,021 (GRCm39) |
D556G |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 37,990,432 (GRCm39) |
I307N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,042,265 (GRCm39) |
V638I |
probably benign |
Het |
| Snx7 |
G |
A |
3: 117,633,609 (GRCm39) |
L84F |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,345,214 (GRCm39) |
D1693G |
probably damaging |
Het |
| Tm9sf5 |
G |
A |
X: 56,467,320 (GRCm39) |
D245N |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,443 (GRCm39) |
C485Y |
probably damaging |
Het |
| Vmn2r-ps129 |
C |
T |
17: 23,211,770 (GRCm39) |
|
noncoding transcript |
Het |
| Zfyve9 |
A |
G |
4: 108,539,420 (GRCm39) |
V951A |
possibly damaging |
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 |
|
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