Incidental Mutation 'R5404:Clec4b2'
| ID |
428623 |
| 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 |
042975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R5404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
123149852-123181630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123158308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 58
(Y58F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088455]
|
| AlphaFold |
Q67DU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088455
AA Change: Y58F
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000085802
Gene: ENSMUSG00000067767
AA Change: Y58F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
CLECT
|
79 |
202 |
1.87e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
| Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
| Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
| Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
| Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
| Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
| Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
| Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
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 |
|
|
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 |
|
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'- TGCCATGTTGGACTTAAGTGG -3'
(R):5'- GCTTAGGCAGAGAACTTCTCCT -3'
Sequencing Primer
(F):5'- CCATGTTGGACTTAAGTGGGGTAG -3'
(R):5'- CTTGAACTAAATGCCTGGACACTGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation