Incidental Mutation 'IGL03159:Defa29'
| ID |
411342 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Defa29
|
| Ensembl Gene |
ENSMUSG00000074437 |
| Gene Name |
defensin, alpha, 29 |
| Synonyms |
CRS1C-2, 2010319H24Rik, 2010300L12Rik, Defa-rs1, Defcr-rs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL03159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
21815904-21817034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21816978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 5
(V5A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098890]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098890
AA Change: V5A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096489
Gene: ENSMUSG00000074437
AA Change: V5A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Defensin_propep
|
1 |
51 |
2.9e-26 |
PFAM |
|
low complexity region
|
65 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179812
|
| 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 |
| Defb22 |
A |
G |
2: 152,331,995 (GRCm39) |
F13L |
probably benign |
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 Defa29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01644:Defa29
|
APN |
8 |
21,816,137 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02639:Defa29
|
APN |
8 |
21,816,137 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
FR4342:Defa29
|
UTSW |
8 |
21,816,160 (GRCm39) |
missense |
probably benign |
|
|
R1912:Defa29
|
UTSW |
8 |
21,816,028 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1932:Defa29
|
UTSW |
8 |
21,816,865 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7261:Defa29
|
UTSW |
8 |
21,816,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7999:Defa29
|
UTSW |
8 |
21,816,859 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8100:Defa29
|
UTSW |
8 |
21,816,990 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
|
R8412:Defa29
|
UTSW |
8 |
21,816,062 (GRCm39) |
missense |
probably benign |
|
|
R8503:Defa29
|
UTSW |
8 |
21,815,903 (GRCm39) |
splice site |
probably benign |
|
|
R9471:Defa29
|
UTSW |
8 |
21,816,901 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation