Incidental Mutation 'R0035:Clec4a3'
| ID |
15340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4a3
|
| Ensembl Gene |
ENSMUSG00000043832 |
| Gene Name |
C-type lectin domain family 4, member a3 |
| Synonyms |
mDcir3, 3110037K17Rik |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122929474-122946834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122944508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 185
(Y185N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088468]
[ENSMUST00000117173]
[ENSMUST00000204427]
|
| AlphaFold |
Q8JZX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088468
AA Change: Y185N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832
AA Change: Y185N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
107 |
231 |
1.97e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117173
AA Change: Y185N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832
AA Change: Y185N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
107 |
231 |
1.97e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204427
|
| SMART Domains |
Protein: ENSMUSP00000144856
Gene: ENSMUSG00000043832
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
SCOP:d1e87a_
|
71 |
109 |
1e-8 |
SMART |
|
Blast:CLECT
|
73 |
109 |
2e-20 |
BLAST |
|
PDB:3VYK|A
|
73 |
109 |
7e-13 |
PDB |
|
| Meta Mutation Damage Score |
0.9395 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Clec4a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01667:Clec4a3
|
APN |
6 |
122,929,819 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02210:Clec4a3
|
APN |
6 |
122,931,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02874:Clec4a3
|
APN |
6 |
122,944,519 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02983:Clec4a3
|
APN |
6 |
122,944,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0035:Clec4a3
|
UTSW |
6 |
122,944,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Clec4a3
|
UTSW |
6 |
122,946,329 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0671:Clec4a3
|
UTSW |
6 |
122,930,993 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1508:Clec4a3
|
UTSW |
6 |
122,944,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1739:Clec4a3
|
UTSW |
6 |
122,931,000 (GRCm39) |
nonsense |
probably null |
|
|
R3547:Clec4a3
|
UTSW |
6 |
122,941,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Clec4a3
|
UTSW |
6 |
122,929,861 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5953:Clec4a3
|
UTSW |
6 |
122,946,451 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7178:Clec4a3
|
UTSW |
6 |
122,941,251 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7664:Clec4a3
|
UTSW |
6 |
122,943,381 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7763:Clec4a3
|
UTSW |
6 |
122,941,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8739:Clec4a3
|
UTSW |
6 |
122,944,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Clec4a3
|
UTSW |
6 |
122,946,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Clec4a3
|
UTSW |
6 |
122,946,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Clec4a3
|
UTSW |
6 |
122,943,479 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9457:Clec4a3
|
UTSW |
6 |
122,931,045 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2012-12-17 |
Incidental Mutation