Incidental Mutation 'R3609:Clec4b1'
| ID |
269184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4b1
|
| Ensembl Gene |
ENSMUSG00000030147 |
| Gene Name |
C-type lectin domain family 4, member b1 |
| Synonyms |
1810046I24Rik, 1810046I24Rik, DCARbeta, DCAR, mDcar2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R3609 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
123026921-123048514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123027591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 16
(L16Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077228]
[ENSMUST00000078559]
|
| AlphaFold |
Q7TS58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077228
AA Change: L16Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076466
Gene: ENSMUSG00000030147
AA Change: L16Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
CLECT
|
45 |
170 |
2.95e-31 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078559
AA Change: L16Q
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077636
Gene: ENSMUSG00000030147
AA Change: L16Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
26 |
71 |
1e-9 |
BLAST |
|
CLECT
|
78 |
203 |
2.95e-31 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifc |
A |
T |
10: 85,836,502 (GRCm39) |
M1K |
probably null |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Ces1c |
A |
T |
8: 93,846,960 (GRCm39) |
I98N |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,220 (GRCm39) |
Y106C |
probably damaging |
Het |
| Irak3 |
G |
T |
10: 119,981,582 (GRCm39) |
T441K |
possibly damaging |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,503,384 (GRCm39) |
T48I |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Or4a47 |
A |
G |
2: 89,665,420 (GRCm39) |
S290P |
probably damaging |
Het |
| Or5al1 |
G |
A |
2: 85,989,976 (GRCm39) |
T246I |
probably benign |
Het |
| Or5p57 |
A |
G |
7: 107,665,576 (GRCm39) |
F143S |
probably damaging |
Het |
| Or8k23 |
G |
C |
2: 86,185,826 (GRCm39) |
A300G |
probably damaging |
Het |
| Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
| Rest |
A |
C |
5: 77,430,647 (GRCm39) |
N1022T |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,870 (GRCm39) |
C358S |
probably damaging |
Het |
|
| Other mutations in Clec4b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02817:Clec4b1
|
APN |
6 |
123,045,444 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0488:Clec4b1
|
UTSW |
6 |
123,048,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0526:Clec4b1
|
UTSW |
6 |
123,046,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0675:Clec4b1
|
UTSW |
6 |
123,048,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2374:Clec4b1
|
UTSW |
6 |
123,027,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Clec4b1
|
UTSW |
6 |
123,042,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4062:Clec4b1
|
UTSW |
6 |
123,045,443 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4081:Clec4b1
|
UTSW |
6 |
123,046,733 (GRCm39) |
splice site |
probably null |
|
|
R4865:Clec4b1
|
UTSW |
6 |
123,045,428 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5172:Clec4b1
|
UTSW |
6 |
123,048,414 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5204:Clec4b1
|
UTSW |
6 |
123,048,494 (GRCm39) |
makesense |
probably null |
|
|
R5757:Clec4b1
|
UTSW |
6 |
123,046,713 (GRCm39) |
nonsense |
probably null |
|
|
R6129:Clec4b1
|
UTSW |
6 |
123,045,461 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7598:Clec4b1
|
UTSW |
6 |
123,048,427 (GRCm39) |
nonsense |
probably null |
|
|
R8337:Clec4b1
|
UTSW |
6 |
123,042,922 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8362:Clec4b1
|
UTSW |
6 |
123,027,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8929:Clec4b1
|
UTSW |
6 |
123,046,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1188:Clec4b1
|
UTSW |
6 |
123,027,005 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGACTTGGCCATTCATCCTAGG -3'
(R):5'- TTGCATGCAAGACTGGACCAG -3'
Sequencing Primer
(F):5'- ATCCTAGGATGTTGACAGCAC -3'
(R):5'- CCTGGTCCATGCAGAAAGTTTCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation