Incidental Mutation 'IGL01561:Clec4a4'
ID |
90858 |
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 # |
IGL01561
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
122967326-123001064 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 123000975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 229
(C229*)
|
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 null
Transcript: ENSMUST00000079379
AA Change: C229*
|
SMART Domains |
Protein: ENSMUSP00000078351 Gene: ENSMUSG00000059639 AA Change: C229*
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
G |
A |
11: 5,821,349 (GRCm39) |
D583N |
probably damaging |
Het |
Aoah |
G |
T |
13: 21,189,264 (GRCm39) |
D496Y |
probably damaging |
Het |
Aoah |
T |
C |
13: 21,089,905 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
G |
T |
15: 19,000,012 (GRCm39) |
A486S |
possibly damaging |
Het |
Cers2 |
A |
T |
3: 95,229,472 (GRCm39) |
|
probably null |
Het |
Col15a1 |
T |
C |
4: 47,312,118 (GRCm39) |
V1311A |
possibly damaging |
Het |
Fpr-rs3 |
C |
T |
17: 20,844,859 (GRCm39) |
G94D |
probably damaging |
Het |
Fsd1 |
T |
A |
17: 56,302,363 (GRCm39) |
M269K |
probably benign |
Het |
Golga2 |
A |
G |
2: 32,186,689 (GRCm39) |
M73V |
probably benign |
Het |
Gusb |
A |
T |
5: 130,026,927 (GRCm39) |
V388E |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,587,038 (GRCm39) |
N1267S |
probably benign |
Het |
Htra4 |
A |
C |
8: 25,523,587 (GRCm39) |
I326S |
probably damaging |
Het |
Klhl33 |
T |
C |
14: 51,128,888 (GRCm39) |
I780M |
probably benign |
Het |
Mertk |
T |
C |
2: 128,578,556 (GRCm39) |
S181P |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,202,851 (GRCm39) |
H1882R |
probably damaging |
Het |
Muc13 |
A |
G |
16: 33,626,411 (GRCm39) |
K317E |
possibly damaging |
Het |
Nek3 |
A |
G |
8: 22,619,472 (GRCm39) |
F440S |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,540,172 (GRCm39) |
R831H |
probably damaging |
Het |
Or10w1 |
T |
C |
19: 13,632,269 (GRCm39) |
F159L |
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,886,955 (GRCm39) |
F44L |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
Palmd |
A |
T |
3: 116,717,742 (GRCm39) |
S252T |
probably damaging |
Het |
Piezo2 |
C |
A |
18: 63,257,685 (GRCm39) |
M344I |
probably benign |
Het |
Pygo1 |
T |
A |
9: 72,852,570 (GRCm39) |
N252K |
probably damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,106,221 (GRCm39) |
Q262R |
probably benign |
Het |
Xpo1 |
T |
C |
11: 23,232,706 (GRCm39) |
Y409H |
possibly damaging |
Het |
Zan |
T |
A |
5: 137,462,128 (GRCm39) |
E1017V |
unknown |
Het |
|
Other mutations in Clec4a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01659:Clec4a4
|
APN |
6 |
123,000,894 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-12-09 |