Incidental Mutation 'R6579:Serpina11'
| ID |
523944 |
| 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 |
044703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103946502-103956216 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103951007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 238
(D238V)
|
| 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: D240V
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: D240V
| 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: D238V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: D238V
| 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 |
probably benign
Transcript: ENSMUST00000151709
|
| SMART Domains |
Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232
| 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: D238V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232
AA Change: D238V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
258 |
3.22e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
| 6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
| Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
| AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
| Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
| Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
| Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
| Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
| Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
| Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
| Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TGGCCCAGCTCTTAAGAAAG -3'
(R):5'- GGCCCTGATACTTAAGACATTCC -3'
Sequencing Primer
(F):5'- CTTAAGAAAGACCAGGCAGTACCTTG -3'
(R):5'- AGACATTCCAGAGGATGTCACCTTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation