Incidental Mutation 'IGL00782:Defb11'
| ID |
10108 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Defb11
|
| Ensembl Gene |
ENSMUSG00000045337 |
| Gene Name |
defensin beta 11 |
| Synonyms |
Defb8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL00782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
22395392-22396428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22395510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 56
(I56V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051965]
|
| AlphaFold |
Q8R2I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051965
AA Change: I56V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000053932
Gene: ENSMUSG00000045337
AA Change: I56V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
DEFSN
|
37 |
67 |
3.54e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212313
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
T |
7: 119,172,391 (GRCm39) |
E78V |
probably damaging |
Het |
| Atxn7 |
A |
G |
14: 14,096,218 (GRCm38) |
I508V |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,582 (GRCm39) |
N1075S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,375,826 (GRCm39) |
I689T |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,893,619 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,203,095 (GRCm39) |
N244S |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 57,031,415 (GRCm39) |
S42P |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,137,779 (GRCm39) |
|
probably benign |
Het |
| Jcad |
T |
C |
18: 4,675,073 (GRCm39) |
L945S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,331,989 (GRCm39) |
M1589V |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,556,153 (GRCm39) |
|
probably benign |
Het |
| Samd1 |
T |
C |
8: 84,726,246 (GRCm39) |
F464S |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,127,116 (GRCm39) |
S213P |
possibly damaging |
Het |
| Taar1 |
A |
G |
10: 23,796,344 (GRCm39) |
N14S |
probably benign |
Het |
| Tinf2 |
A |
G |
14: 55,917,921 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,528,555 (GRCm39) |
N2140S |
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,664,186 (GRCm39) |
D123G |
probably benign |
Het |
|
| Other mutations in Defb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2269:Defb11
|
UTSW |
8 |
22,395,444 (GRCm39) |
makesense |
probably null |
|
|
R5067:Defb11
|
UTSW |
8 |
22,396,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5826:Defb11
|
UTSW |
8 |
22,395,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7252:Defb11
|
UTSW |
8 |
22,395,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Defb11
|
UTSW |
8 |
22,396,362 (GRCm39) |
missense |
probably null |
0.96 |
|
Z1177:Defb11
|
UTSW |
8 |
22,396,362 (GRCm39) |
missense |
probably null |
0.96 |
|
| Posted On |
2012-12-06 |
Incidental Mutation