Incidental Mutation 'IGL00795:Defb21'
| ID |
12573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Defb21
|
| Ensembl Gene |
ENSMUSG00000056544 |
| Gene Name |
defensin beta 21 |
| Synonyms |
4930525K10Rik, LOC228782 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152414664-152416864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152416665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 47
(D47G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053180]
[ENSMUST00000070722]
|
| AlphaFold |
Q8C5Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053180
|
| SMART Domains |
Protein: ENSMUSP00000059585
Gene: ENSMUSG00000050645
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Defensin_big
|
2 |
60 |
3.4e-9 |
PFAM |
|
Pfam:Defensin_beta_2
|
26 |
55 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070722
AA Change: D47G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544
AA Change: D47G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Defensin_beta_2
|
33 |
62 |
1.4e-9 |
PFAM |
|
low complexity region
|
76 |
86 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,007,353 (GRCm39) |
N308S |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,663,735 (GRCm39) |
V222A |
probably benign |
Het |
| Ccdc91 |
G |
T |
6: 147,409,305 (GRCm39) |
D4Y |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 117,984,460 (GRCm39) |
C1607F |
probably benign |
Het |
| Hycc2 |
C |
T |
1: 58,591,338 (GRCm39) |
E102K |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,389 (GRCm39) |
L401P |
probably damaging |
Het |
| Kif18a |
A |
T |
2: 109,123,365 (GRCm39) |
N213I |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,588,234 (GRCm39) |
D19G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,812,434 (GRCm39) |
I32N |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,888,191 (GRCm39) |
T295S |
probably damaging |
Het |
| Pum3 |
T |
A |
19: 27,399,758 (GRCm39) |
Y225F |
probably damaging |
Het |
| Tas2r131 |
G |
A |
6: 132,934,554 (GRCm39) |
T85I |
possibly damaging |
Het |
| Tbcd |
T |
G |
11: 121,507,758 (GRCm39) |
I1193S |
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,235 (GRCm39) |
A82T |
probably benign |
Het |
|
| Other mutations in Defb21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Defb21
|
APN |
2 |
152,416,712 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01301:Defb21
|
APN |
2 |
152,416,671 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01686:Defb21
|
APN |
2 |
152,416,821 (GRCm39) |
unclassified |
probably benign |
|
|
ANU18:Defb21
|
UTSW |
2 |
152,416,671 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2305:Defb21
|
UTSW |
2 |
152,416,791 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2438:Defb21
|
UTSW |
2 |
152,416,695 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6805:Defb21
|
UTSW |
2 |
152,416,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8924:Defb21
|
UTSW |
2 |
152,416,704 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
X0063:Defb21
|
UTSW |
2 |
152,415,752 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Defb21
|
UTSW |
2 |
152,415,753 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation