Incidental Mutation 'R5471:Clec4n'
| ID |
433806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4n
|
| Ensembl Gene |
ENSMUSG00000023349 |
| Gene Name |
C-type lectin domain family 4, member n |
| Synonyms |
Clecsf10, Nkcl, dectin-2 |
| MMRRC Submission |
043032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123206802-123223980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123209145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 70
(M70K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024118]
[ENSMUST00000112554]
[ENSMUST00000117130]
[ENSMUST00000151714]
[ENSMUST00000205129]
|
| AlphaFold |
Q9JKF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024118
AA Change: M70K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: M70K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
CLECT
|
79 |
203 |
5.89e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112554
|
| SMART Domains |
Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
CLECT
|
45 |
169 |
5.89e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117130
AA Change: M40K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349
AA Change: M40K
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
49 |
173 |
5.89e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144840
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151714
|
| SMART Domains |
Protein: ENSMUSP00000120043
Gene: ENSMUSG00000023349
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205129
AA Change: M70K
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000145023
Gene: ENSMUSG00000023349
AA Change: M70K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
26 |
72 |
3e-13 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele have defective responses to Candida albicans. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
| Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
| Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
| Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
| Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
| Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
| Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
| Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
| Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
| Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
| Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
| Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
| Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
| Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
| Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
| Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
| Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
| Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
| Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
| Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
| Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
| Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
| Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
probably benign |
Het |
|
| Other mutations in Clec4n |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01627:Clec4n
|
APN |
6 |
123,221,433 (GRCm39) |
intron |
probably benign |
|
|
IGL02248:Clec4n
|
APN |
6 |
123,207,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03181:Clec4n
|
APN |
6 |
123,207,474 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03293:Clec4n
|
APN |
6 |
123,209,105 (GRCm39) |
missense |
probably benign |
0.10 |
|
P4717OSA:Clec4n
|
UTSW |
6 |
123,221,499 (GRCm39) |
missense |
probably damaging |
0.97 |
|
P4748:Clec4n
|
UTSW |
6 |
123,221,499 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1137:Clec4n
|
UTSW |
6 |
123,223,526 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1445:Clec4n
|
UTSW |
6 |
123,212,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1538:Clec4n
|
UTSW |
6 |
123,206,992 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1804:Clec4n
|
UTSW |
6 |
123,206,981 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1960:Clec4n
|
UTSW |
6 |
123,207,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2046:Clec4n
|
UTSW |
6 |
123,223,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4097:Clec4n
|
UTSW |
6 |
123,207,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4657:Clec4n
|
UTSW |
6 |
123,209,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4967:Clec4n
|
UTSW |
6 |
123,209,066 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6703:Clec4n
|
UTSW |
6 |
123,212,553 (GRCm39) |
missense |
probably null |
1.00 |
|
R7411:Clec4n
|
UTSW |
6 |
123,209,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7877:Clec4n
|
UTSW |
6 |
123,209,063 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9127:Clec4n
|
UTSW |
6 |
123,212,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Clec4n
|
UTSW |
6 |
123,212,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9375:Clec4n
|
UTSW |
6 |
123,207,662 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9454:Clec4n
|
UTSW |
6 |
123,212,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9471:Clec4n
|
UTSW |
6 |
123,221,505 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAGCAATAATTTAGTCTTGTCG -3'
(R):5'- AGAATGCTTGATAGTTTCCAAGTCG -3'
Sequencing Primer
(F):5'- GCAATAATTTAGTCTTGTCGTTAGTG -3'
(R):5'- TCCAAGTCGAAACATCTCTCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation