Incidental Mutation 'IGL00471:Clec4d'
| ID |
5375 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4d
|
| Ensembl Gene |
ENSMUSG00000030144 |
| Gene Name |
C-type lectin domain family 4, member d |
| Synonyms |
mcl, Clecsf8, mMCL, Mpcl |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123239070-123252224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123251732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 205
(I205F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032240]
[ENSMUST00000204826]
|
| AlphaFold |
Q9Z2H6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032240
AA Change: I205F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032240
Gene: ENSMUSG00000030144
AA Change: I205F
| 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 |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
| Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
| Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
| Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
| Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
| Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
| Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
| Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Clec4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2443:Clec4d
|
UTSW |
6 |
123,245,076 (GRCm39) |
missense |
probably benign |
0.32 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation