Incidental Mutation 'IGL00926:Clec4a1'
| ID |
27626 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4a1
|
| Ensembl Gene |
ENSMUSG00000049037 |
| Gene Name |
C-type lectin domain family 4, member a1 |
| Synonyms |
mDcir4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL00926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122898807-122911578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122899014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 28
(C28S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060484]
|
| AlphaFold |
Q80UI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060484
AA Change: C28S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000062441
Gene: ENSMUSG00000049037
AA Change: C28S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
CLECT
|
114 |
239 |
8.08e-29 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
| Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
| Cavin2 |
A |
G |
1: 51,340,036 (GRCm39) |
K238E |
probably damaging |
Het |
| Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
| Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
| Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
T |
A |
4: 116,444,710 (GRCm39) |
|
probably null |
Het |
| Helq |
T |
C |
5: 100,912,948 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mettl18 |
T |
A |
1: 163,823,795 (GRCm39) |
S39T |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
| Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
| Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
| Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
| Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
| Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,155 (GRCm39) |
N423S |
possibly damaging |
Het |
| Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
G |
A |
3: 116,383,884 (GRCm39) |
Q58* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
| Other mutations in Clec4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00932:Clec4a1
|
APN |
6 |
122,907,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Clec4a1
|
APN |
6 |
122,907,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Clec4a1
|
APN |
6 |
122,905,033 (GRCm39) |
splice site |
probably benign |
|
|
IGL02009:Clec4a1
|
APN |
6 |
122,909,175 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02629:Clec4a1
|
APN |
6 |
122,909,106 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03180:Clec4a1
|
APN |
6 |
122,901,777 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1973:Clec4a1
|
UTSW |
6 |
122,901,793 (GRCm39) |
splice site |
probably null |
|
|
R4582:Clec4a1
|
UTSW |
6 |
122,909,150 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4758:Clec4a1
|
UTSW |
6 |
122,910,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4937:Clec4a1
|
UTSW |
6 |
122,907,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Clec4a1
|
UTSW |
6 |
122,909,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Clec4a1
|
UTSW |
6 |
122,905,001 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6748:Clec4a1
|
UTSW |
6 |
122,910,856 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7387:Clec4a1
|
UTSW |
6 |
122,899,016 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7481:Clec4a1
|
UTSW |
6 |
122,904,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Clec4a1
|
UTSW |
6 |
122,909,109 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8209:Clec4a1
|
UTSW |
6 |
122,907,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8243:Clec4a1
|
UTSW |
6 |
122,901,778 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8297:Clec4a1
|
UTSW |
6 |
122,898,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Clec4a1
|
UTSW |
6 |
122,910,882 (GRCm39) |
makesense |
probably null |
|
|
Z1177:Clec4a1
|
UTSW |
6 |
122,910,851 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2013-04-17 |
Incidental Mutation