Incidental Mutation 'R1072:Clec4b2'
| ID |
85494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4b2
|
| Ensembl Gene |
ENSMUSG00000067767 |
| Gene Name |
C-type lectin domain family 4, member b2 |
| Synonyms |
mDCAR1, F830043G12Rik |
| MMRRC Submission |
039158-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1072 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
123149852-123181630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123181233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 206
(I206T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088455]
|
| AlphaFold |
Q67DU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088455
AA Change: I206T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085802
Gene: ENSMUSG00000067767
AA Change: I206T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
CLECT
|
79 |
202 |
1.87e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,811,992 (GRCm39) |
F191Y |
probably benign |
Het |
| Ankrd55 |
G |
T |
13: 112,485,376 (GRCm39) |
A169S |
possibly damaging |
Het |
| Ano2 |
A |
G |
6: 126,016,287 (GRCm39) |
E940G |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,336,943 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Ccnf |
A |
T |
17: 24,456,136 (GRCm39) |
V283D |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,888,190 (GRCm39) |
V535A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,807,855 (GRCm39) |
D1779E |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,749,316 (GRCm39) |
N1154D |
probably damaging |
Het |
| Klra10 |
A |
T |
6: 130,258,811 (GRCm39) |
H25Q |
probably benign |
Het |
| Lpo |
A |
G |
11: 87,709,260 (GRCm39) |
S94P |
probably damaging |
Het |
| Mbd5 |
A |
T |
2: 49,147,203 (GRCm39) |
N471I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,199,490 (GRCm39) |
Y1366C |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,993,617 (GRCm39) |
I261T |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,143,860 (GRCm39) |
F75S |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,650,357 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
A |
G |
3: 136,640,888 (GRCm39) |
M480V |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,215,663 (GRCm39) |
M1367K |
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
C |
G |
14: 40,855,592 (GRCm39) |
|
probably null |
Het |
| Shank2 |
A |
T |
7: 143,965,305 (GRCm39) |
N1181I |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,427,524 (GRCm39) |
T462A |
probably damaging |
Het |
| Spdye4c |
T |
C |
2: 128,438,557 (GRCm39) |
L305P |
probably benign |
Het |
| Th |
C |
A |
7: 142,448,225 (GRCm39) |
V275L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,733,721 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,460,914 (GRCm39) |
V2725A |
possibly damaging |
Het |
|
| Other mutations in Clec4b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00956:Clec4b2
|
APN |
6 |
123,179,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL01753:Clec4b2
|
APN |
6 |
123,179,169 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02168:Clec4b2
|
APN |
6 |
123,181,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02388:Clec4b2
|
APN |
6 |
123,179,187 (GRCm39) |
splice site |
probably null |
|
|
IGL03194:Clec4b2
|
APN |
6 |
123,177,946 (GRCm39) |
missense |
probably benign |
0.07 |
|
P0041:Clec4b2
|
UTSW |
6 |
123,158,253 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0013:Clec4b2
|
UTSW |
6 |
123,179,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Clec4b2
|
UTSW |
6 |
123,181,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0401:Clec4b2
|
UTSW |
6 |
123,158,259 (GRCm39) |
nonsense |
probably null |
|
|
R2520:Clec4b2
|
UTSW |
6 |
123,177,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Clec4b2
|
UTSW |
6 |
123,150,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4897:Clec4b2
|
UTSW |
6 |
123,177,999 (GRCm39) |
nonsense |
probably null |
|
|
R4898:Clec4b2
|
UTSW |
6 |
123,181,163 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5022:Clec4b2
|
UTSW |
6 |
123,177,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R5023:Clec4b2
|
UTSW |
6 |
123,177,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R5057:Clec4b2
|
UTSW |
6 |
123,177,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R5404:Clec4b2
|
UTSW |
6 |
123,158,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5508:Clec4b2
|
UTSW |
6 |
123,150,001 (GRCm39) |
start gained |
probably benign |
|
|
R6082:Clec4b2
|
UTSW |
6 |
123,181,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6333:Clec4b2
|
UTSW |
6 |
123,177,637 (GRCm39) |
splice site |
probably null |
|
|
R6902:Clec4b2
|
UTSW |
6 |
123,177,987 (GRCm39) |
nonsense |
probably null |
|
|
R6946:Clec4b2
|
UTSW |
6 |
123,177,987 (GRCm39) |
nonsense |
probably null |
|
|
R7144:Clec4b2
|
UTSW |
6 |
123,158,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7709:Clec4b2
|
UTSW |
6 |
123,149,974 (GRCm39) |
start gained |
probably benign |
|
|
R7973:Clec4b2
|
UTSW |
6 |
123,181,148 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8810:Clec4b2
|
UTSW |
6 |
123,158,269 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9278:Clec4b2
|
UTSW |
6 |
123,181,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTATTGTAGGAAACACCCTGATGCTC -3'
(R):5'- acacacacacacaAAGGCAAGTAATAGA -3'
Sequencing Primer
(F):5'- GAAACACCCTGATGCTCTTTCC -3'
(R):5'- GCCTGAAAGGGTATCAGTATAGTCTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation