Incidental Mutation 'R2443:Clec4d'
ID |
249867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clec4d
|
Ensembl Gene |
ENSMUSG00000030144 |
Gene Name |
C-type lectin domain family 4, member d |
Synonyms |
mcl, Clecsf8, mMCL, Mpcl |
MMRRC Submission |
040401-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2443 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
123239070-123252224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123245076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 119
(V119M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032240]
[ENSMUST00000204826]
|
AlphaFold |
Q9Z2H6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032240
AA Change: V119M
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000032240 Gene: ENSMUSG00000030144 AA Change: V119M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
CLECT
|
83 |
207 |
1.59e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203421
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204826
|
SMART Domains |
Protein: ENSMUSP00000145134 Gene: ENSMUSG00000030144
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
28 |
77 |
1e-8 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to trehalose-6,60'-dimycolate treatment. Mice homozygous for a different knock-out allele exhibit increased susceptibility to pneumonia infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
Cfap91 |
A |
G |
16: 38,123,094 (GRCm39) |
Y645H |
probably damaging |
Het |
Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
Fga |
A |
G |
3: 82,935,848 (GRCm39) |
K25R |
probably benign |
Het |
Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
Kcnip3 |
T |
A |
2: 127,301,983 (GRCm39) |
I194F |
probably damaging |
Het |
Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
Ms4a6d |
G |
A |
19: 11,567,557 (GRCm39) |
H115Y |
possibly damaging |
Het |
Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
Npy5r |
T |
A |
8: 67,133,942 (GRCm39) |
K284* |
probably null |
Het |
Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,674,618 (GRCm39) |
Y389N |
probably damaging |
Het |
Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly damaging |
Het |
|
Other mutations in Clec4d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00471:Clec4d
|
APN |
6 |
123,251,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Clec4d
|
UTSW |
6 |
123,245,006 (GRCm39) |
nonsense |
probably null |
|
R0157:Clec4d
|
UTSW |
6 |
123,244,095 (GRCm39) |
missense |
probably benign |
0.00 |
R1756:Clec4d
|
UTSW |
6 |
123,244,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R1928:Clec4d
|
UTSW |
6 |
123,244,120 (GRCm39) |
splice site |
probably null |
|
R1964:Clec4d
|
UTSW |
6 |
123,239,319 (GRCm39) |
missense |
probably benign |
0.05 |
R2208:Clec4d
|
UTSW |
6 |
123,242,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R4740:Clec4d
|
UTSW |
6 |
123,245,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Clec4d
|
UTSW |
6 |
123,244,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R5692:Clec4d
|
UTSW |
6 |
123,245,104 (GRCm39) |
critical splice donor site |
probably null |
|
R5785:Clec4d
|
UTSW |
6 |
123,251,729 (GRCm39) |
missense |
probably benign |
0.09 |
R5903:Clec4d
|
UTSW |
6 |
123,244,020 (GRCm39) |
missense |
probably damaging |
0.98 |
R6005:Clec4d
|
UTSW |
6 |
123,244,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R6209:Clec4d
|
UTSW |
6 |
123,247,488 (GRCm39) |
splice site |
probably null |
|
R7760:Clec4d
|
UTSW |
6 |
123,247,300 (GRCm39) |
missense |
probably benign |
0.01 |
R7867:Clec4d
|
UTSW |
6 |
123,244,123 (GRCm39) |
critical splice donor site |
probably null |
|
R8198:Clec4d
|
UTSW |
6 |
123,244,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R8204:Clec4d
|
UTSW |
6 |
123,242,323 (GRCm39) |
missense |
probably damaging |
0.98 |
R9198:Clec4d
|
UTSW |
6 |
123,251,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R9278:Clec4d
|
UTSW |
6 |
123,251,651 (GRCm39) |
nonsense |
probably null |
|
R9278:Clec4d
|
UTSW |
6 |
123,251,649 (GRCm39) |
missense |
probably benign |
0.05 |
Z1176:Clec4d
|
UTSW |
6 |
123,251,645 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Clec4d
|
UTSW |
6 |
123,245,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAAATTAAGTGCTCCTTGGTAAC -3'
(R):5'- CTTCTCTGTGAAGGGAATTAAAGC -3'
Sequencing Primer
(F):5'- AGTGCTCCTTGGTAACTAACATC -3'
(R):5'- TAACTGGTGGTCTTGACACAGCC -3'
|
Posted On |
2014-11-12 |