Incidental Mutation 'IGL03194:Clec4b2'
ID |
412730 |
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: 0.050)
|
Stock # |
IGL03194
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
123149852-123181630 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123177946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 87
(G87D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088455]
|
AlphaFold |
Q67DU8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088455
AA Change: G87D
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000085802 Gene: ENSMUSG00000067767 AA Change: G87D
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
C |
8: 84,460,647 (GRCm39) |
S64G |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,522 (GRCm39) |
V306A |
probably damaging |
Het |
Disp2 |
A |
T |
2: 118,618,110 (GRCm39) |
R219W |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,314,048 (GRCm39) |
D317E |
probably benign |
Het |
Dstyk |
A |
T |
1: 132,384,054 (GRCm39) |
|
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,302,240 (GRCm39) |
S451G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,201,821 (GRCm39) |
T418S |
probably benign |
Het |
Fto |
G |
A |
8: 92,136,415 (GRCm39) |
D228N |
probably damaging |
Het |
Gins4 |
A |
T |
8: 23,724,762 (GRCm39) |
|
probably benign |
Het |
Gm10220 |
T |
A |
5: 26,326,231 (GRCm39) |
R40W |
probably damaging |
Het |
Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
T |
G |
11: 48,786,364 (GRCm39) |
|
probably benign |
Het |
Hebp1 |
A |
G |
6: 135,132,190 (GRCm39) |
M59T |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,404,554 (GRCm39) |
V1989D |
probably damaging |
Het |
Ltc4s |
T |
C |
11: 50,127,398 (GRCm39) |
*151W |
probably null |
Het |
Map3k21 |
A |
G |
8: 126,650,801 (GRCm39) |
T268A |
possibly damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,444 (GRCm39) |
L164P |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,483,388 (GRCm39) |
T650A |
probably damaging |
Het |
Mss51 |
T |
C |
14: 20,535,165 (GRCm39) |
N202D |
probably benign |
Het |
Mtus2 |
G |
A |
5: 148,043,913 (GRCm39) |
A834T |
probably damaging |
Het |
Nalf1 |
T |
C |
8: 9,282,975 (GRCm39) |
D358G |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,257,788 (GRCm39) |
M585T |
possibly damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Npvf |
A |
C |
6: 50,627,878 (GRCm39) |
D180E |
possibly damaging |
Het |
Nup188 |
A |
T |
2: 30,194,346 (GRCm39) |
Y173F |
possibly damaging |
Het |
Oas3 |
C |
A |
5: 120,897,018 (GRCm39) |
A868S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,381,531 (GRCm39) |
T1086A |
probably damaging |
Het |
Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
Rara |
T |
C |
11: 98,862,490 (GRCm39) |
M297T |
possibly damaging |
Het |
Tmc1 |
T |
C |
19: 20,782,017 (GRCm39) |
E567G |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,914,921 (GRCm39) |
Q1970* |
probably null |
Het |
Usp11 |
T |
C |
X: 20,578,656 (GRCm39) |
I162T |
probably benign |
Het |
Utrn |
A |
G |
10: 12,282,173 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,521,359 (GRCm39) |
E827G |
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 |
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 |
|
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 |
2016-08-02 |