Incidental Mutation 'R4550:Serpina11'
ID |
333922 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4550 (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 G
at 103949154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 341
(F341S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074693]
[ENSMUST00000120251]
[ENSMUST00000151709]
[ENSMUST00000176246]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074693
AA Change: F341S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074258 Gene: ENSMUSG00000063232 AA Change: F341S
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: F339S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112420 Gene: ENSMUSG00000063232 AA Change: F339S
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 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd53 |
T |
C |
6: 83,742,242 (GRCm39) |
V153A |
probably damaging |
Het |
Ext1 |
A |
G |
15: 52,965,182 (GRCm39) |
S395P |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,352,483 (GRCm39) |
K914R |
probably benign |
Het |
Gm128 |
T |
C |
3: 95,147,472 (GRCm39) |
D274G |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kmt2c |
G |
C |
5: 25,505,172 (GRCm39) |
R3379G |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,283,857 (GRCm39) |
S675G |
probably damaging |
Het |
Pop1 |
T |
C |
15: 34,529,082 (GRCm39) |
F704S |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,798,160 (GRCm39) |
T961A |
probably benign |
Het |
Snapc1 |
C |
A |
12: 74,017,053 (GRCm39) |
D9E |
probably damaging |
Het |
Syt8 |
G |
T |
7: 141,993,199 (GRCm39) |
V35L |
probably benign |
Het |
Tchh |
A |
G |
3: 93,352,617 (GRCm39) |
R686G |
unknown |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
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 |
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'- GATGGAAATGAAGTTGCCCATG -3'
(R):5'- ATCCCATAGGCTGGTATACCC -3'
Sequencing Primer
(F):5'- TGAAGTTGCCCATGAATAAAATCTG -3'
(R):5'- GGTATACCCTGCTCTCGCTCATAG -3'
|
Posted On |
2015-08-18 |