Incidental Mutation 'IGL01659:Clec4a4'
| ID |
103114 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4a4
|
| Ensembl Gene |
ENSMUSG00000059639 |
| Gene Name |
C-type lectin domain family 4, member a4 |
| Synonyms |
Dcir2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122967326-123001064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123000894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 202
(E202D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079379]
|
| AlphaFold |
Q5YIR8 |
| PDB Structure |
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 (apo form) [X-RAY DIFFRACTION]
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 in complex with N-glycan [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079379
AA Change: E202D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078351
Gene: ENSMUSG00000059639
AA Change: E202D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
107 |
230 |
1.72e-32 |
SMART |
|
| 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 |
|---|
| Adam32 |
A |
T |
8: 25,360,790 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,110 (GRCm39) |
S581P |
probably damaging |
Het |
| Arl13b |
T |
C |
16: 62,623,113 (GRCm39) |
S370G |
possibly damaging |
Het |
| Cdr2 |
G |
T |
7: 120,557,772 (GRCm39) |
A251E |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,309,568 (GRCm39) |
|
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,492,178 (GRCm39) |
|
probably null |
Het |
| Flnc |
A |
G |
6: 29,448,670 (GRCm39) |
T1303A |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,847,619 (GRCm39) |
|
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,714 (GRCm39) |
V227A |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,450,275 (GRCm39) |
E487G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,331,034 (GRCm39) |
L454P |
probably damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,529 (GRCm39) |
C169* |
probably null |
Het |
| Rad51 |
T |
A |
2: 118,949,183 (GRCm39) |
I61K |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,709,733 (GRCm39) |
H431Q |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,451,377 (GRCm39) |
N2725S |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,711,521 (GRCm39) |
E64G |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,729,281 (GRCm39) |
Y39C |
probably damaging |
Het |
|
| Other mutations in Clec4a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Clec4a4
|
APN |
6 |
123,000,975 (GRCm39) |
nonsense |
probably null |
|
|
IGL02455:Clec4a4
|
APN |
6 |
122,990,739 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02726:Clec4a4
|
APN |
6 |
122,967,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03241:Clec4a4
|
APN |
6 |
122,967,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0751:Clec4a4
|
UTSW |
6 |
122,989,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1184:Clec4a4
|
UTSW |
6 |
122,989,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1455:Clec4a4
|
UTSW |
6 |
122,989,758 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1474:Clec4a4
|
UTSW |
6 |
122,989,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1514:Clec4a4
|
UTSW |
6 |
122,967,401 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1779:Clec4a4
|
UTSW |
6 |
123,000,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Clec4a4
|
UTSW |
6 |
123,000,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2182:Clec4a4
|
UTSW |
6 |
122,990,716 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2207:Clec4a4
|
UTSW |
6 |
122,990,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3817:Clec4a4
|
UTSW |
6 |
122,967,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5474:Clec4a4
|
UTSW |
6 |
122,989,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Clec4a4
|
UTSW |
6 |
122,981,017 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6164:Clec4a4
|
UTSW |
6 |
122,968,833 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6628:Clec4a4
|
UTSW |
6 |
122,989,763 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7212:Clec4a4
|
UTSW |
6 |
122,968,704 (GRCm39) |
splice site |
probably null |
|
|
R7399:Clec4a4
|
UTSW |
6 |
122,968,788 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7808:Clec4a4
|
UTSW |
6 |
122,967,339 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8370:Clec4a4
|
UTSW |
6 |
122,968,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Clec4a4
|
UTSW |
6 |
122,980,982 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8900:Clec4a4
|
UTSW |
6 |
123,000,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Clec4a4
|
UTSW |
6 |
122,990,836 (GRCm39) |
splice site |
probably benign |
|
|
R9260:Clec4a4
|
UTSW |
6 |
123,000,895 (GRCm39) |
nonsense |
probably null |
|
|
X0013:Clec4a4
|
UTSW |
6 |
123,000,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation