Incidental Mutation 'R5204:Clec4b1'
| ID |
398338 |
| 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 |
042779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
123026921-123048514 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 123048494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 210
(*210R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077228]
[ENSMUST00000078559]
|
| AlphaFold |
Q7TS58 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077228
AA Change: *177R
|
| SMART Domains |
Protein: ENSMUSP00000076466
Gene: ENSMUSG00000030147
AA Change: *177R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
CLECT
|
45 |
170 |
2.95e-31 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000078559
AA Change: *210R
|
| SMART Domains |
Protein: ENSMUSP00000077636
Gene: ENSMUSG00000030147
AA Change: *210R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
26 |
71 |
1e-9 |
BLAST |
|
CLECT
|
78 |
203 |
2.95e-31 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
T |
11: 101,297,752 (GRCm39) |
L532Q |
probably damaging |
Het |
| Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
| Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,776,888 (GRCm39) |
V504A |
possibly damaging |
Het |
| Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
| Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
| Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Klhl5 |
G |
T |
5: 65,288,781 (GRCm39) |
L14F |
possibly damaging |
Het |
| Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
| Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
| Rufy1 |
C |
T |
11: 50,297,261 (GRCm39) |
R397Q |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,385 (GRCm39) |
N274S |
possibly damaging |
Het |
| Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
| Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
| Zfp866 |
A |
G |
8: 70,218,690 (GRCm39) |
L310P |
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 |
|
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 |
|
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'- CTGTGGGTCCAGTTTTCCAG -3'
(R):5'- TTTATGACAGAATAGGTGGGTAAATGC -3'
Sequencing Primer
(F):5'- CATTGTAGGAATCACCCTGATGC -3'
(R):5'- TGCACAAGGATATATGTGGGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation