Incidental Mutation 'IGL01557:Defb22'
| ID |
90742 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Defb22
|
| Ensembl Gene |
ENSMUSG00000027468 |
| Gene Name |
defensin beta 22 |
| Synonyms |
9230002F21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152327586-152332058 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 152327999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 62
(D62A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028966]
|
| AlphaFold |
Q8BVC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028966
AA Change: D62A
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468
AA Change: D62A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Defensin_beta_2
|
26 |
59 |
4e-11 |
PFAM |
|
low complexity region
|
89 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
| Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
| Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
| Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
| Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
| Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
| Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
probably benign |
Het |
|
| Other mutations in Defb22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02040:Defb22
|
APN |
2 |
152,331,976 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03159:Defb22
|
APN |
2 |
152,331,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5153:Defb22
|
UTSW |
2 |
152,327,722 (GRCm39) |
missense |
unknown |
|
|
R5387:Defb22
|
UTSW |
2 |
152,327,826 (GRCm39) |
missense |
unknown |
|
|
R6141:Defb22
|
UTSW |
2 |
152,327,722 (GRCm39) |
missense |
unknown |
|
|
R7153:Defb22
|
UTSW |
2 |
152,327,840 (GRCm39) |
missense |
unknown |
|
|
R7385:Defb22
|
UTSW |
2 |
152,328,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7650:Defb22
|
UTSW |
2 |
152,328,023 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7671:Defb22
|
UTSW |
2 |
152,327,950 (GRCm39) |
missense |
unknown |
|
|
R8242:Defb22
|
UTSW |
2 |
152,328,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8271:Defb22
|
UTSW |
2 |
152,327,712 (GRCm39) |
missense |
unknown |
|
|
R9224:Defb22
|
UTSW |
2 |
152,327,721 (GRCm39) |
missense |
unknown |
|
|
R9706:Defb22
|
UTSW |
2 |
152,327,820 (GRCm39) |
missense |
unknown |
|
|
RF013:Defb22
|
UTSW |
2 |
152,327,751 (GRCm39) |
small insertion |
probably benign |
|
|
RF021:Defb22
|
UTSW |
2 |
152,327,752 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Defb22
|
UTSW |
2 |
152,327,744 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Defb22
|
UTSW |
2 |
152,327,743 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Defb22
|
UTSW |
2 |
152,327,753 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Defb22
|
UTSW |
2 |
152,327,752 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Defb22
|
UTSW |
2 |
152,327,743 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Defb22
|
UTSW |
2 |
152,327,753 (GRCm39) |
small insertion |
probably benign |
|
|
RF062:Defb22
|
UTSW |
2 |
152,327,745 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation