Incidental Mutation 'IGL02168:Clec4b2'
ID |
282791 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clec4b2
|
Ensembl Gene |
ENSMUSG00000067767 |
Gene Name |
C-type lectin domain family 4, member b2 |
Synonyms |
mDCAR1, F830043G12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL02168
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
123149852-123181630 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123181156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 180
(N180K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088455]
|
AlphaFold |
Q67DU8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088455
AA Change: N180K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000085802 Gene: ENSMUSG00000067767 AA Change: N180K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
CLECT
|
79 |
202 |
1.87e-33 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
A |
G |
6: 71,577,101 (GRCm39) |
V738A |
probably damaging |
Het |
Klf10 |
A |
T |
15: 38,297,085 (GRCm39) |
F318L |
probably damaging |
Het |
Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
Pole2 |
A |
G |
12: 69,248,660 (GRCm39) |
|
probably benign |
Het |
Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
Scart1 |
A |
T |
7: 139,803,399 (GRCm39) |
H321L |
probably benign |
Het |
Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
Ubtf |
T |
C |
11: 102,204,994 (GRCm39) |
K97E |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
Zfp458 |
A |
T |
13: 67,406,098 (GRCm39) |
C111S |
probably 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 |
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 |
|
R1072:Clec4b2
|
UTSW |
6 |
123,181,233 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2015-04-16 |