Incidental Mutation 'P0041:Clec4b2'
| ID |
15620 |
| 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 |
038289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
P0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123149852-123181630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123158253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 40
(T40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088455]
|
| AlphaFold |
Q67DU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088455
AA Change: T40A
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000085802
Gene: ENSMUSG00000067767
AA Change: T40A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
CLECT
|
79 |
202 |
1.87e-33 |
SMART |
|
| Meta Mutation Damage Score |
0.1176 |
| Coding Region Coverage |
- 1x: 86.7%
- 3x: 79.7%
- 10x: 43.1%
- 20x: 3.5%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap1 |
A |
G |
2: 91,499,738 (GRCm39) |
E291G |
probably benign |
Het |
| Atg5 |
A |
C |
10: 44,165,938 (GRCm39) |
E63A |
probably benign |
Het |
| Colgalt1 |
A |
G |
8: 72,075,434 (GRCm39) |
M447V |
probably benign |
Het |
| Dnai3 |
G |
A |
3: 145,786,997 (GRCm39) |
S346F |
possibly damaging |
Het |
| Enpep |
T |
C |
3: 129,125,847 (GRCm39) |
D95G |
possibly damaging |
Het |
| Epha3 |
C |
A |
16: 63,433,231 (GRCm39) |
E170D |
probably damaging |
Het |
| Gm9900 |
A |
T |
11: 58,220,409 (GRCm39) |
Y63* |
probably null |
Het |
| Gtf2i |
C |
T |
5: 134,273,742 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,517,647 (GRCm39) |
N343I |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,197,599 (GRCm39) |
|
probably benign |
Het |
| Mobp |
G |
A |
9: 119,997,083 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,861,603 (GRCm38) |
H553L |
probably benign |
Het |
| Nploc4 |
A |
T |
11: 120,309,157 (GRCm39) |
D148E |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,749,473 (GRCm39) |
K296E |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,696 (GRCm39) |
I406T |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,370,524 (GRCm39) |
M255K |
possibly damaging |
Het |
| Synrg |
C |
T |
11: 83,873,137 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,949,123 (GRCm39) |
V559A |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,875,050 (GRCm39) |
D552G |
probably benign |
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 |
|
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 |
2012-12-21 |
Incidental Mutation