Incidental Mutation 'IGL03051:Clec4e'
| ID |
409048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4e
|
| Ensembl Gene |
ENSMUSG00000030142 |
| Gene Name |
C-type lectin domain family 4, member e |
| Synonyms |
Mincle, Clecsf9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123258748-123266829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123266692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032239]
[ENSMUST00000176096]
[ENSMUST00000177367]
|
| AlphaFold |
Q9R0Q8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032239
AA Change: S6P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000032239
Gene: ENSMUSG00000030142
AA Change: S6P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
CLECT
|
80 |
206 |
4.82e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175995
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176096
AA Change: S6P
|
| SMART Domains |
Protein: ENSMUSP00000135682
Gene: ENSMUSG00000030142
AA Change: S6P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177367
AA Change: S6P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000135081
Gene: ENSMUSG00000030142
AA Change: S6P
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
51 |
177 |
4.82e-36 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation exhibit reduced cytokine (TNF) production after challenge with C. albicans and are more susceptible to systemic candidiasis. The majority of homozygotes also display histological evidence of abnormal heart valves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clec4e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02713:Clec4e
|
APN |
6 |
123,263,263 (GRCm39) |
nonsense |
probably null |
|
|
IGL03201:Clec4e
|
APN |
6 |
123,260,599 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0583:Clec4e
|
UTSW |
6 |
123,260,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Clec4e
|
UTSW |
6 |
123,262,420 (GRCm39) |
splice site |
probably benign |
|
|
R1818:Clec4e
|
UTSW |
6 |
123,262,452 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1826:Clec4e
|
UTSW |
6 |
123,260,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Clec4e
|
UTSW |
6 |
123,260,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2435:Clec4e
|
UTSW |
6 |
123,265,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4530:Clec4e
|
UTSW |
6 |
123,266,733 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6891:Clec4e
|
UTSW |
6 |
123,260,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Clec4e
|
UTSW |
6 |
123,262,533 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8476:Clec4e
|
UTSW |
6 |
123,263,235 (GRCm39) |
missense |
probably benign |
|
|
R9315:Clec4e
|
UTSW |
6 |
123,263,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Clec4e
|
UTSW |
6 |
123,263,306 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2016-08-02 |
Incidental Mutation