Incidental Mutation 'IGL03159:Defb22'
| ID |
411350 |
| 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 # |
IGL03159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152327586-152332058 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152331995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 13
(F13L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028966]
|
| AlphaFold |
Q8BVC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028966
AA Change: F13L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468
AA Change: F13L
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
A |
13: 104,580,723 (GRCm39) |
M812K |
probably damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,844,599 (GRCm39) |
R122W |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
| Defa29 |
A |
G |
8: 21,816,978 (GRCm39) |
V5A |
possibly damaging |
Het |
| Gmds |
C |
A |
13: 32,003,934 (GRCm39) |
D362Y |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,456,167 (GRCm39) |
V179A |
possibly damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Kcnk7 |
T |
C |
19: 5,756,116 (GRCm39) |
L114P |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,495,328 (GRCm39) |
|
probably benign |
Het |
| Mfsd3 |
A |
G |
15: 76,587,101 (GRCm39) |
T285A |
probably benign |
Het |
| Or5g27 |
A |
G |
2: 85,410,284 (GRCm39) |
R234G |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,084,498 (GRCm39) |
M321T |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,051,372 (GRCm39) |
N185K |
probably benign |
Het |
| Smo |
A |
G |
6: 29,758,504 (GRCm39) |
R550G |
probably benign |
Het |
| Tbc1d31 |
T |
G |
15: 57,783,444 (GRCm39) |
|
probably null |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,404,162 (GRCm39) |
F10I |
probably benign |
Het |
|
| Other mutations in Defb22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01557:Defb22
|
APN |
2 |
152,327,999 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02040:Defb22
|
APN |
2 |
152,331,976 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
2016-08-02 |
Incidental Mutation