Incidental Mutation 'R5697:Clec5a'
| ID |
450735 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
40551832-40562739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40559204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 35
(D35G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135240
(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: D35G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915
AA Change: D35G
| 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: D60G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121848
Gene: ENSMUSG00000029915
AA Change: D60G
| 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: D35G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135240
Gene: ENSMUSG00000029915
AA Change: D35G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
CLECT
|
48 |
160 |
9.02e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,713,630 (GRCm39) |
F550S |
possibly damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,616 (GRCm39) |
W203R |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,823,090 (GRCm39) |
T326I |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,010,170 (GRCm39) |
L309P |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,231,063 (GRCm39) |
M1149V |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
T |
8: 125,315,810 (GRCm39) |
H39Y |
unknown |
Het |
| Ccn2 |
A |
G |
10: 24,473,354 (GRCm39) |
T298A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,311,237 (GRCm39) |
Q1425* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,859,971 (GRCm39) |
L610P |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,190 (GRCm39) |
T424S |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,323,395 (GRCm39) |
V599G |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,102,772 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,527,952 (GRCm39) |
L320F |
probably damaging |
Het |
| H2bc22 |
C |
T |
13: 21,971,961 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,954,152 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,968 (GRCm39) |
E29K |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,598,477 (GRCm39) |
I137V |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,903,070 (GRCm39) |
T316A |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,342,686 (GRCm39) |
A642S |
probably null |
Het |
| Mrgprb3 |
G |
T |
7: 48,292,673 (GRCm39) |
L293M |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,885,155 (GRCm39) |
E1138G |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,576,012 (GRCm39) |
F379L |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,220,884 (GRCm39) |
K373R |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,190 (GRCm39) |
F293S |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,502,152 (GRCm39) |
Y66H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,720 (GRCm39) |
R5061G |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,288,683 (GRCm39) |
|
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,270,792 (GRCm39) |
V558A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,045 (GRCm39) |
E480G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 179,239,247 (GRCm39) |
K111T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,350 (GRCm39) |
R597* |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,724,000 (GRCm39) |
V1043L |
probably benign |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,474 (GRCm39) |
L22R |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,917 (GRCm39) |
D107G |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,470 (GRCm39) |
Y103H |
probably benign |
Het |
| Zfp39 |
G |
T |
11: 58,780,661 (GRCm39) |
H700Q |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,046 (GRCm39) |
E134D |
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 |
|
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 |
|
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 |
|
|
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'- AGAAATTCCATCACTCTAGTCTGC -3'
(R):5'- ATTTCCCTGCCCCAAATAGG -3'
Sequencing Primer
(F):5'- TGCCTTCTCATCCCTAACATAAAGG -3'
(R):5'- GCCCCAAATAGGATTTTCATCAAGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation