Incidental Mutation 'R2374:Clec4b1'
| ID |
248231 |
| 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 |
| MMRRC Submission |
040353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123026921-123048514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 123027597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 18
(L18R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077228]
[ENSMUST00000078559]
|
| AlphaFold |
Q7TS58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077228
AA Change: L18R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076466
Gene: ENSMUSG00000030147
AA Change: L18R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
CLECT
|
45 |
170 |
2.95e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078559
AA Change: L18R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077636
Gene: ENSMUSG00000030147
AA Change: L18R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
26 |
71 |
1e-9 |
BLAST |
|
CLECT
|
78 |
203 |
2.95e-31 |
SMART |
|
| Meta Mutation Damage Score |
0.2087 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.7%
|
| Validation Efficiency |
97% (33/34) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
C |
T |
18: 80,174,202 (GRCm39) |
R69Q |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,939,545 (GRCm39) |
D133G |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,043,288 (GRCm39) |
V706I |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,632 (GRCm39) |
L294P |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,662,494 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,074,711 (GRCm39) |
L504P |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,013 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,764 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,291,780 (GRCm39) |
N3424S |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,395,515 (GRCm39) |
V539I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Ly6e |
A |
G |
15: 74,830,470 (GRCm39) |
S107G |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Myo15a |
T |
G |
11: 60,369,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,153,669 (GRCm39) |
W2419R |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,900 (GRCm39) |
T560S |
possibly damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,958 (GRCm39) |
M274T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,795 (GRCm39) |
S41R |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,411 (GRCm39) |
L697P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,059,517 (GRCm39) |
Y2443H |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,845 (GRCm39) |
I393T |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,825,614 (GRCm39) |
L155Q |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,492,422 (GRCm39) |
M816K |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,050 (GRCm39) |
D398G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,543 (GRCm39) |
S249T |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,575,104 (GRCm39) |
P137Q |
probably benign |
Het |
| Zbtb26 |
A |
G |
2: 37,326,497 (GRCm39) |
S180P |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,391 (GRCm39) |
L458Q |
probably damaging |
Het |
| Zfy1 |
G |
C |
Y: 726,392 (GRCm39) |
L458V |
possibly damaging |
Het |
| Zmpste24 |
T |
C |
4: 120,931,734 (GRCm39) |
E297G |
probably benign |
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 |
|
R2504:Clec4b1
|
UTSW |
6 |
123,042,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3609:Clec4b1
|
UTSW |
6 |
123,027,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ATCCTAGGATGTTGACAGCAC -3'
(R):5'- TTGCATGCAAGACTGGACC -3'
Sequencing Primer
(F):5'- ATTCTGAGCATTTTGTCTGG -3'
(R):5'- CCTGGTCCATGCAGAAAGTTTCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation