Incidental Mutation 'IGL02281:Clec5a'
| ID |
289833 |
| 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 # |
IGL02281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40551832-40562739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40561336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 36
(D36E)
|
| 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: D36E
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121848
Gene: ENSMUSG00000029915
AA Change: D36E
| 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 |
|---|
| Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
| Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
| Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
| Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
| Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
| Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
| Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
| Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
| Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
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 |
|
IGL01680:Clec5a
|
APN |
6 |
40,561,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01701:Clec5a
|
APN |
6 |
40,559,160 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation