Incidental Mutation 'R4528:Serpina11'
| ID |
333008 |
| 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 |
041769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103946502-103956216 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103952592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 66
(N66K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115400
(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
AA Change: N61K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: N61K
| 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
AA Change: N59K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: N59K
| 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
AA Change: N66K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232
AA Change: N66K
| 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
AA Change: N59K
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232
AA Change: N59K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
258 |
3.22e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
| Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
| Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
| Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
| Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
| Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
| Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
| Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
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 |
|
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'- TGTCCCAGTTTCAGTTCCAG -3'
(R):5'- TTCAGATGATGGGGCCAGTG -3'
Sequencing Primer
(F):5'- TGCAGGAGGCTCTGGAAACC -3'
(R):5'- CCAGTGTGGCTGTGGCTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation