Incidental Mutation 'IGL02249:Serpina1e'
ID |
286317 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina1e
|
Ensembl Gene |
ENSMUSG00000072849 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 1E |
Synonyms |
PI5, Spi1-5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL02249
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103913190-103923156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 103917393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 92
(T92M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085054]
[ENSMUST00000122229]
|
AlphaFold |
Q00898 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085054
AA Change: T92M
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082130 Gene: ENSMUSG00000072849 AA Change: T92M
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
SERPIN
|
53 |
410 |
3.17e-200 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122229
AA Change: T92M
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113606 Gene: ENSMUSG00000072849 AA Change: T92M
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
SERPIN
|
53 |
410 |
3.17e-200 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
Glb1l3 |
A |
T |
9: 26,742,564 (GRCm39) |
S307R |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
H2-M11 |
A |
T |
17: 36,858,829 (GRCm39) |
Y123F |
probably benign |
Het |
Hal |
G |
A |
10: 93,333,400 (GRCm39) |
A323T |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,555,623 (GRCm39) |
I283M |
possibly damaging |
Het |
Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
Noc4l |
C |
A |
5: 110,801,081 (GRCm39) |
|
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,307,772 (GRCm39) |
W274R |
probably damaging |
Het |
Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
probably damaging |
Het |
|
Other mutations in Serpina1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03186:Serpina1e
|
APN |
12 |
103,915,462 (GRCm39) |
missense |
probably benign |
0.05 |
BB004:Serpina1e
|
UTSW |
12 |
103,917,450 (GRCm39) |
missense |
probably benign |
0.06 |
BB014:Serpina1e
|
UTSW |
12 |
103,917,450 (GRCm39) |
missense |
probably benign |
0.06 |
R0517:Serpina1e
|
UTSW |
12 |
103,915,486 (GRCm39) |
missense |
probably benign |
0.00 |
R0529:Serpina1e
|
UTSW |
12 |
103,915,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0547:Serpina1e
|
UTSW |
12 |
103,915,450 (GRCm39) |
missense |
probably benign |
|
R1797:Serpina1e
|
UTSW |
12 |
103,917,150 (GRCm39) |
missense |
probably benign |
0.21 |
R1964:Serpina1e
|
UTSW |
12 |
103,917,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R2311:Serpina1e
|
UTSW |
12 |
103,917,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3889:Serpina1e
|
UTSW |
12 |
103,917,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R4671:Serpina1e
|
UTSW |
12 |
103,914,341 (GRCm39) |
missense |
probably damaging |
0.98 |
R5518:Serpina1e
|
UTSW |
12 |
103,917,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R6038:Serpina1e
|
UTSW |
12 |
103,913,095 (GRCm39) |
splice site |
probably null |
|
R6038:Serpina1e
|
UTSW |
12 |
103,913,095 (GRCm39) |
splice site |
probably null |
|
R6150:Serpina1e
|
UTSW |
12 |
103,917,066 (GRCm39) |
missense |
probably benign |
|
R6826:Serpina1e
|
UTSW |
12 |
103,915,397 (GRCm39) |
missense |
probably benign |
0.30 |
R7002:Serpina1e
|
UTSW |
12 |
103,914,338 (GRCm39) |
missense |
probably benign |
0.00 |
R7144:Serpina1e
|
UTSW |
12 |
103,913,277 (GRCm39) |
makesense |
probably null |
|
R7734:Serpina1e
|
UTSW |
12 |
103,917,151 (GRCm39) |
missense |
probably benign |
0.01 |
R7927:Serpina1e
|
UTSW |
12 |
103,917,450 (GRCm39) |
missense |
probably benign |
0.06 |
R8158:Serpina1e
|
UTSW |
12 |
103,917,354 (GRCm39) |
missense |
probably benign |
0.00 |
R8276:Serpina1e
|
UTSW |
12 |
103,913,428 (GRCm39) |
missense |
probably damaging |
0.96 |
R8715:Serpina1e
|
UTSW |
12 |
103,917,177 (GRCm39) |
missense |
probably benign |
0.24 |
R9034:Serpina1e
|
UTSW |
12 |
103,917,361 (GRCm39) |
missense |
probably benign |
0.00 |
R9343:Serpina1e
|
UTSW |
12 |
103,917,299 (GRCm39) |
missense |
probably benign |
0.01 |
R9549:Serpina1e
|
UTSW |
12 |
103,917,243 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1176:Serpina1e
|
UTSW |
12 |
103,917,568 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Serpina1e
|
UTSW |
12 |
103,914,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |