Incidental Mutation 'IGL01680:Clec5a'
| ID |
103774 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec5a
|
| Ensembl Gene |
ENSMUSG00000029915 |
| Gene Name |
C-type lectin domain family 5, member a |
| Synonyms |
Ly100, myeloid DAP12-associating lectin-1, Clecsf5, MDL-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40551832-40562739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40561314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 44
(Y44H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101491]
[ENSMUST00000129948]
[ENSMUST00000177178]
|
| AlphaFold |
Q9R007 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101491
|
| SMART Domains |
Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
CLECT
|
48 |
161 |
3.83e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129948
AA Change: Y44H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000121848
Gene: ENSMUSG00000029915
AA Change: Y44H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
29 |
51 |
5.12e-5 |
PROSPERO |
|
CLECT
|
73 |
186 |
3.83e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177178
|
| SMART Domains |
Protein: ENSMUSP00000135240
Gene: ENSMUSG00000029915
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
CLECT
|
48 |
160 |
9.02e-18 |
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 interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to induced arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Adprh |
C |
T |
16: 38,270,578 (GRCm39) |
G76S |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,008,293 (GRCm39) |
D463G |
possibly damaging |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Gga2 |
G |
T |
7: 121,597,299 (GRCm39) |
D363E |
probably benign |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,839,096 (GRCm39) |
D319G |
probably benign |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,099,127 (GRCm39) |
R186W |
probably damaging |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,218 (GRCm39) |
I166V |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clec5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01316:Clec5a
|
APN |
6 |
40,559,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01701:Clec5a
|
APN |
6 |
40,559,160 (GRCm39) |
splice site |
probably benign |
|
|
IGL02281:Clec5a
|
APN |
6 |
40,561,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02799:Clec5a
|
UTSW |
6 |
40,554,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Clec5a
|
UTSW |
6 |
40,561,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Clec5a
|
UTSW |
6 |
40,562,153 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1752:Clec5a
|
UTSW |
6 |
40,559,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Clec5a
|
UTSW |
6 |
40,558,870 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2022:Clec5a
|
UTSW |
6 |
40,562,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2110:Clec5a
|
UTSW |
6 |
40,562,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4915:Clec5a
|
UTSW |
6 |
40,562,165 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5697:Clec5a
|
UTSW |
6 |
40,559,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5906:Clec5a
|
UTSW |
6 |
40,558,793 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7811:Clec5a
|
UTSW |
6 |
40,558,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Clec5a
|
UTSW |
6 |
40,556,361 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2014-01-21 |
Incidental Mutation