Incidental Mutation 'R1318:Serpina11'
| ID |
157612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina11
|
| Ensembl Gene |
ENSMUSG00000063232 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 |
| Synonyms |
LOC380780 |
| MMRRC Submission |
039384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1318 (G1)
|
| Quality Score |
192 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103946502-103956216 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 103952777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably benign
Transcript: ENSMUST00000074693
|
| SMART Domains |
Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SERPIN
|
64 |
424 |
3.55e-139 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120251
|
| SMART Domains |
Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
| 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 |
unknown
Transcript: ENSMUST00000151709
AA Change: S5T
|
| SMART Domains |
Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232
AA Change: S5T
| 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 benign
Transcript: ENSMUST00000176246
|
| SMART Domains |
Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
258 |
3.22e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,751,621 (GRCm39) |
V334L |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,605,531 (GRCm39) |
S1925A |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Comt |
G |
T |
16: 18,226,641 (GRCm39) |
D248E |
probably damaging |
Het |
| Ctnna2 |
A |
C |
6: 76,859,773 (GRCm39) |
N874K |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,669 (GRCm39) |
P237L |
possibly damaging |
Het |
| Galnt4 |
T |
G |
10: 98,945,772 (GRCm39) |
V499G |
probably damaging |
Het |
| Gh |
T |
C |
11: 106,191,923 (GRCm39) |
T96A |
probably benign |
Het |
| Gng8 |
T |
C |
7: 16,629,161 (GRCm39) |
V29A |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,040,972 (GRCm39) |
L1001P |
probably damaging |
Het |
| Jph1 |
A |
C |
1: 17,067,714 (GRCm39) |
F658V |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,750 (GRCm39) |
M180L |
possibly damaging |
Het |
| Ldb2 |
C |
T |
5: 44,692,379 (GRCm39) |
|
probably null |
Het |
| Mettl2 |
C |
A |
11: 105,028,597 (GRCm39) |
Y316* |
probably null |
Het |
| Mug2 |
G |
A |
6: 122,054,361 (GRCm39) |
V1047M |
probably damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,956 (GRCm39) |
C140F |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,559,401 (GRCm39) |
I101T |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,039,442 (GRCm39) |
N210S |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,328 (GRCm39) |
|
probably benign |
Het |
| Plaat3 |
T |
A |
19: 7,556,591 (GRCm39) |
|
probably null |
Het |
| Rims2 |
G |
A |
15: 39,381,222 (GRCm39) |
R1051H |
probably damaging |
Het |
| Rnf4 |
C |
A |
5: 34,508,590 (GRCm39) |
R151S |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,706,164 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
Het |
|
| Other mutations in Serpina11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Serpina11
|
APN |
12 |
103,952,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATGTGCCTCCACACTGAATAGAT -3'
(R):5'- ggaaggaaggaaggaagaaggaCTGAA -3'
Sequencing Primer
(F):5'- CTGTCCAGAAAACGTTGCTG -3'
(R):5'- agaaggaCTGAAGGATCTATTTTTCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation