Incidental Mutation 'IGL01086:Serpina11'
| ID |
52439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina11
|
| Ensembl Gene |
ENSMUSG00000063232 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 |
| Synonyms |
LOC380780 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103946502-103956216 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103952329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 147
(D147V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074693]
[ENSMUST00000120251]
[ENSMUST00000151709]
[ENSMUST00000176246]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074693
AA Change: D149V
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: D149V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SERPIN
|
64 |
424 |
3.55e-139 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120251
AA Change: D147V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: D147V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
422 |
3.55e-139 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139777
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151709
AA Change: D154V
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232
AA Change: D154V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
SERPIN
|
69 |
237 |
5.23e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176106
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176246
AA Change: D147V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232
AA Change: D147V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
258 |
3.22e-9 |
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 |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,729 (GRCm39) |
R104S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Aim2 |
A |
G |
1: 173,282,999 (GRCm39) |
Y27C |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,308,114 (GRCm39) |
E127G |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,474,066 (GRCm39) |
F1118L |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,347 (GRCm39) |
D940G |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,131,789 (GRCm39) |
V376I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,650 (GRCm39) |
E195G |
probably benign |
Het |
| Coro6 |
C |
A |
11: 77,357,374 (GRCm39) |
C194* |
probably null |
Het |
| Crebbp |
T |
C |
16: 3,997,416 (GRCm39) |
M223V |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,116,857 (GRCm39) |
C157S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,579,611 (GRCm39) |
L3048S |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,613,960 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,688 (GRCm39) |
Y732C |
probably damaging |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,707 (GRCm39) |
I7V |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,788,488 (GRCm39) |
F216S |
probably damaging |
Het |
| Lcn6 |
T |
C |
2: 25,570,792 (GRCm39) |
F61L |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,871 (GRCm39) |
|
probably benign |
Het |
| Or5w18 |
T |
A |
2: 87,633,544 (GRCm39) |
Y266* |
probably null |
Het |
| Otof |
C |
T |
5: 30,533,617 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
T |
C |
1: 133,019,356 (GRCm39) |
C1035R |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,227,984 (GRCm39) |
N298D |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,963,648 (GRCm39) |
|
probably benign |
Het |
| Pwp1 |
T |
C |
10: 85,715,757 (GRCm39) |
|
probably null |
Het |
| Scel |
A |
G |
14: 103,849,827 (GRCm39) |
I631V |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,300,503 (GRCm39) |
M1288L |
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,096,311 (GRCm39) |
C1266S |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,216 (GRCm39) |
V117A |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,370,541 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
A |
T |
11: 115,681,110 (GRCm39) |
T158S |
probably benign |
Het |
| Tomm40l |
T |
C |
1: 171,047,878 (GRCm39) |
|
probably null |
Het |
| Traf6 |
A |
G |
2: 101,515,128 (GRCm39) |
I95V |
probably benign |
Het |
| Ttc13 |
A |
G |
8: 125,402,085 (GRCm39) |
I686T |
probably damaging |
Het |
| Zmat2 |
C |
T |
18: 36,929,163 (GRCm39) |
H104Y |
probably damaging |
Het |
|
| Other mutations in Serpina11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01480:Serpina11
|
APN |
12 |
103,949,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL03082:Serpina11
|
APN |
12 |
103,952,560 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0195:Serpina11
|
UTSW |
12 |
103,952,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Serpina11
|
UTSW |
12 |
103,946,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Serpina11
|
UTSW |
12 |
103,946,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1318:Serpina11
|
UTSW |
12 |
103,952,777 (GRCm39) |
splice site |
probably benign |
|
|
R1796:Serpina11
|
UTSW |
12 |
103,950,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Serpina11
|
UTSW |
12 |
103,949,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2202:Serpina11
|
UTSW |
12 |
103,952,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2340:Serpina11
|
UTSW |
12 |
103,951,002 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4528:Serpina11
|
UTSW |
12 |
103,952,592 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4550:Serpina11
|
UTSW |
12 |
103,949,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Serpina11
|
UTSW |
12 |
103,950,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Serpina11
|
UTSW |
12 |
103,952,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5311:Serpina11
|
UTSW |
12 |
103,952,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6579:Serpina11
|
UTSW |
12 |
103,951,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Serpina11
|
UTSW |
12 |
103,952,761 (GRCm39) |
missense |
unknown |
|
|
R7825:Serpina11
|
UTSW |
12 |
103,950,836 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8773:Serpina11
|
UTSW |
12 |
103,952,722 (GRCm39) |
missense |
unknown |
|
|
X0028:Serpina11
|
UTSW |
12 |
103,952,158 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Serpina11
|
UTSW |
12 |
103,946,762 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2013-06-21 |
Incidental Mutation