Incidental Mutation 'IGL01627:Clec4n'
ID92821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4n
Ensembl Gene ENSMUSG00000023349
Gene NameC-type lectin domain family 4, member n
Synonymsdectin-2, Clecsf10, Nkcl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01627
Quality Score
Status
Chromosome6
Chromosomal Location123229843-123247021 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 123244474 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024118] [ENSMUST00000112554] [ENSMUST00000117130] [ENSMUST00000151714] [ENSMUST00000205129]
Predicted Effect probably benign
Transcript: ENSMUST00000024118
SMART Domains Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 45 169 5.89e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117130
SMART Domains Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
CLECT 49 173 5.89e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151714
SMART Domains Protein: ENSMUSP00000120043
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205129
SMART Domains Protein: ENSMUSP00000145023
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
Blast:CLECT 26 72 3e-13 BLAST
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A T 9: 92,347,811 I23F probably damaging Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Casp9 T C 4: 141,805,542 probably benign Het
Ccdc186 G A 19: 56,792,020 T864I probably damaging Het
Chek1 T A 9: 36,723,895 H64L probably damaging Het
Chsy3 T C 18: 59,176,295 S207P probably damaging Het
Col9a1 G A 1: 24,179,608 probably null Het
Dgkd A G 1: 87,880,428 R73G probably damaging Het
Dmbt1 A T 7: 131,081,185 T562S probably benign Het
Epb42 T C 2: 121,025,843 T407A probably benign Het
Eps8l3 A G 3: 107,881,171 D58G probably damaging Het
Fuca1 A T 4: 135,925,551 N162I possibly damaging Het
Gramd1a T C 7: 31,139,796 D229G probably damaging Het
Grin1 A G 2: 25,318,697 S64P probably damaging Het
Hgd T G 16: 37,621,925 V243G probably damaging Het
Il23r A T 6: 67,423,428 N639K probably benign Het
Il33 A G 19: 29,951,990 T38A possibly damaging Het
Mb21d1 A T 9: 78,442,714 V57E possibly damaging Het
Mycbpap T C 11: 94,514,604 E33G probably damaging Het
Npas1 C T 7: 16,465,186 G148D probably damaging Het
Ntan1 C T 16: 13,834,739 T233M probably benign Het
Olfr774 A T 10: 129,238,269 N40I probably damaging Het
Pou2f1 A T 1: 165,880,433 probably benign Het
Rims4 T C 2: 163,864,102 Y204C probably damaging Het
Selp A G 1: 164,143,892 probably null Het
Senp7 A G 16: 56,171,856 E725G probably damaging Het
Snx31 A T 15: 36,517,672 F366Y probably damaging Het
Spats2l A G 1: 57,902,082 probably benign Het
Tssk4 T C 14: 55,650,553 F69L probably damaging Het
Ugt3a2 T C 15: 9,335,720 L9P probably damaging Het
Vmn2r76 A T 7: 86,225,663 I702N probably damaging Het
Vps18 C A 2: 119,297,191 R832S probably benign Het
Xpo6 A G 7: 126,149,334 L375P probably damaging Het
Zfp462 C A 4: 55,008,912 P293T possibly damaging Het
Zyg11b T C 4: 108,250,788 I474V probably benign Het
Other mutations in Clec4n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Clec4n APN 6 123230568 missense probably damaging 0.99
IGL03181:Clec4n APN 6 123230515 missense possibly damaging 0.90
IGL03293:Clec4n APN 6 123232146 missense probably benign 0.10
P4717OSA:Clec4n UTSW 6 123244540 missense probably damaging 0.97
P4748:Clec4n UTSW 6 123244540 missense probably damaging 0.97
R1137:Clec4n UTSW 6 123246567 missense possibly damaging 0.80
R1445:Clec4n UTSW 6 123235516 missense probably benign 0.01
R1538:Clec4n UTSW 6 123230033 missense possibly damaging 0.66
R1804:Clec4n UTSW 6 123230022 missense possibly damaging 0.46
R1960:Clec4n UTSW 6 123230546 missense probably damaging 0.99
R2046:Clec4n UTSW 6 123246504 missense probably benign 0.00
R4097:Clec4n UTSW 6 123230741 missense possibly damaging 0.66
R4657:Clec4n UTSW 6 123232196 critical splice donor site probably null
R4967:Clec4n UTSW 6 123232107 missense probably benign 0.41
R5471:Clec4n UTSW 6 123232186 missense probably benign 0.06
R6703:Clec4n UTSW 6 123235594 missense probably null 1.00
R7411:Clec4n UTSW 6 123232186 missense probably benign 0.06
R7877:Clec4n UTSW 6 123232104 missense probably benign 0.02
R7960:Clec4n UTSW 6 123232104 missense probably benign 0.02
Posted On2013-12-09