Incidental Mutation 'R1580:Clec5a'
ID |
171346 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
039617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R1580 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
40551832-40562739 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 40562153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 4
(H4N)
|
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
AA Change: H4N
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099030 Gene: ENSMUSG00000029915 AA Change: H4N
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: H4N
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000121848 Gene: ENSMUSG00000029915 AA Change: H4N
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
AA Change: H4N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000135240 Gene: ENSMUSG00000029915 AA Change: H4N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
CLECT
|
48 |
160 |
9.02e-18 |
SMART |
|
Meta Mutation Damage Score |
0.1791 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
Validation Efficiency |
96% (43/45) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAAGAACTTGGGCACTGAAC -3'
(R):5'- TGCTCGCTGCACCGAATATCTTATC -3'
Sequencing Primer
(F):5'- GAACTTGGGCACTGAACCTTTAC -3'
(R):5'- TCTGACATACTTGAGACTGGAGC -3'
|
Posted On |
2014-04-13 |