Incidental Mutation 'IGL01487:Serpinb11'
| ID |
88769 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb11
|
| Ensembl Gene |
ENSMUSG00000026327 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11 |
| Synonyms |
2310046M08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107290044-107308205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107307568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 333
(Y333F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027566]
|
| AlphaFold |
Q9CQV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027566
AA Change: Y333F
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000027566
Gene: ENSMUSG00000026327
AA Change: Y333F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
388 |
4.33e-143 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,816,431 (GRCm39) |
V121A |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,148,538 (GRCm39) |
H17R |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Ctsm |
C |
A |
13: 61,686,883 (GRCm39) |
R3L |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,564,753 (GRCm39) |
Q2626* |
probably null |
Het |
| Dpp3 |
C |
T |
19: 4,963,920 (GRCm39) |
V587I |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,481,638 (GRCm39) |
T245A |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,461,955 (GRCm39) |
|
probably benign |
Het |
| Hoxb9 |
C |
T |
11: 96,165,614 (GRCm39) |
Q228* |
probably null |
Het |
| Invs |
A |
G |
4: 48,398,136 (GRCm39) |
I441V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,149,766 (GRCm39) |
E1243G |
probably benign |
Het |
| Rapgefl1 |
C |
T |
11: 98,737,961 (GRCm39) |
H392Y |
probably damaging |
Het |
| Ropn1 |
T |
C |
16: 34,498,839 (GRCm39) |
V209A |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,206,802 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,391,689 (GRCm39) |
M1T |
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,544,292 (GRCm39) |
Y783H |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,715 (GRCm39) |
M990V |
probably benign |
Het |
| Syt3 |
G |
T |
7: 44,040,423 (GRCm39) |
V219F |
possibly damaging |
Het |
| Tmtc4 |
A |
G |
14: 123,163,443 (GRCm39) |
L647S |
probably benign |
Het |
|
| Other mutations in Serpinb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01893:Serpinb11
|
APN |
1 |
107,305,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01893:Serpinb11
|
APN |
1 |
107,305,387 (GRCm39) |
missense |
probably benign |
|
|
IGL03011:Serpinb11
|
APN |
1 |
107,307,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:Serpinb11
|
APN |
1 |
107,307,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Serpinb11
|
UTSW |
1 |
107,305,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Serpinb11
|
UTSW |
1 |
107,299,933 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0419:Serpinb11
|
UTSW |
1 |
107,304,590 (GRCm39) |
nonsense |
probably null |
|
|
R1550:Serpinb11
|
UTSW |
1 |
107,307,418 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1764:Serpinb11
|
UTSW |
1 |
107,304,532 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1972:Serpinb11
|
UTSW |
1 |
107,297,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Serpinb11
|
UTSW |
1 |
107,305,338 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3768:Serpinb11
|
UTSW |
1 |
107,305,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4332:Serpinb11
|
UTSW |
1 |
107,297,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5001:Serpinb11
|
UTSW |
1 |
107,304,598 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5010:Serpinb11
|
UTSW |
1 |
107,307,379 (GRCm39) |
missense |
probably benign |
|
|
R5043:Serpinb11
|
UTSW |
1 |
107,297,195 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5186:Serpinb11
|
UTSW |
1 |
107,307,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5833:Serpinb11
|
UTSW |
1 |
107,305,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5907:Serpinb11
|
UTSW |
1 |
107,299,919 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6244:Serpinb11
|
UTSW |
1 |
107,299,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6395:Serpinb11
|
UTSW |
1 |
107,299,781 (GRCm39) |
splice site |
probably null |
|
|
R7111:Serpinb11
|
UTSW |
1 |
107,304,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7354:Serpinb11
|
UTSW |
1 |
107,305,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7664:Serpinb11
|
UTSW |
1 |
107,307,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Serpinb11
|
UTSW |
1 |
107,298,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Serpinb11
|
UTSW |
1 |
107,305,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9091:Serpinb11
|
UTSW |
1 |
107,304,533 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9270:Serpinb11
|
UTSW |
1 |
107,304,533 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2013-11-18 |
Incidental Mutation