Incidental Mutation 'IGL03201:Clec4e'
ID412980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4e
Ensembl Gene ENSMUSG00000030142
Gene NameC-type lectin domain family 4, member e
SynonymsClecsf9, Mincle
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03201
Quality Score
Status
Chromosome6
Chromosomal Location123281789-123289870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123283640 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 153 (I153T)
Ref Sequence ENSEMBL: ENSMUSP00000135081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032239] [ENSMUST00000176096] [ENSMUST00000177367]
Predicted Effect probably benign
Transcript: ENSMUST00000032239
AA Change: I182T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032239
Gene: ENSMUSG00000030142
AA Change: I182T

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
CLECT 80 206 4.82e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175995
Predicted Effect probably benign
Transcript: ENSMUST00000176096
SMART Domains Protein: ENSMUSP00000135682
Gene: ENSMUSG00000030142

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176831
Predicted Effect probably benign
Transcript: ENSMUST00000177367
AA Change: I153T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135081
Gene: ENSMUSG00000030142
AA Change: I153T

DomainStartEndE-ValueType
CLECT 51 177 4.82e-36 SMART
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. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. 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 null mutation exhibit reduced cytokine (TNF) production after challenge with C. albicans and are more susceptible to systemic candidiasis. The majority of homozygotes also display histological evidence of abnormal heart valves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,228,267 E105G probably damaging Het
Apc A G 18: 34,312,376 D757G probably damaging Het
Arpc3 A T 5: 122,401,718 I45F probably damaging Het
C3 C A 17: 57,222,249 V597L probably damaging Het
Ccdc181 A G 1: 164,280,644 N299D probably benign Het
Cdr1 T A X: 61,185,548 Q4L unknown Het
Cep170 G A 1: 176,736,888 S1464F probably damaging Het
Cfh A G 1: 140,102,819 Y826H probably damaging Het
Chic2 A G 5: 75,011,293 probably benign Het
Chrne T C 11: 70,618,512 H81R probably benign Het
Col14a1 A T 15: 55,408,904 D699V unknown Het
Cul3 T G 1: 80,281,427 S379R probably damaging Het
Cyp3a11 T A 5: 145,860,379 I397F possibly damaging Het
Dnah1 T C 14: 31,300,949 K1077R probably benign Het
Dnajc18 A G 18: 35,680,919 S266P probably benign Het
Dydc1 T G 14: 41,078,690 L74R probably damaging Het
Echdc2 G T 4: 108,169,870 A71S possibly damaging Het
Fer1l4 T A 2: 156,044,730 D693V probably benign Het
Fscn3 T C 6: 28,430,605 V258A probably benign Het
Herc2 T A 7: 56,219,768 I4255N probably damaging Het
Il1rl2 A G 1: 40,343,040 I171V possibly damaging Het
Ino80d G T 1: 63,058,308 T809K probably damaging Het
Lama2 A T 10: 27,344,570 L433* probably null Het
Nlrp9c A T 7: 26,385,108 S349T probably benign Het
Parp11 T C 6: 127,490,018 I124T possibly damaging Het
Parp8 A T 13: 116,863,069 probably benign Het
Pgm2 T C 4: 99,970,039 F379L probably damaging Het
Phf21b T C 15: 84,787,247 H482R probably benign Het
Phka1 A C X: 102,541,110 probably null Het
Plekhh1 T C 12: 79,053,656 W133R probably damaging Het
Polr2a A C 11: 69,745,690 L405* probably null Het
Prrg3 T A X: 71,966,502 V3E probably damaging Het
Pth1r T C 9: 110,722,580 K484E probably damaging Het
Rcbtb1 T C 14: 59,223,278 L230P probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Ssbp2 T C 13: 91,524,601 Y27H probably damaging Het
Sult2a4 A G 7: 13,931,767 V157A probably damaging Het
Tbx15 G A 3: 99,351,980 S389N probably benign Het
Ttn T G 2: 76,841,080 probably benign Het
Ube2n T C 10: 95,542,265 probably benign Het
Wdr95 G A 5: 149,581,887 probably null Het
Wsb2 T C 5: 117,376,555 S298P possibly damaging Het
Zc3h7a T C 16: 11,156,302 probably null Het
Zfat A G 15: 68,165,909 C906R probably damaging Het
Zfp747 G A 7: 127,374,008 T330I probably damaging Het
Zfp949 A G 9: 88,568,664 R96G probably benign Het
Other mutations in Clec4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02713:Clec4e APN 6 123286304 nonsense probably null
IGL03051:Clec4e APN 6 123289733 missense probably benign 0.02
R0583:Clec4e UTSW 6 123283694 missense probably damaging 1.00
R1467:Clec4e UTSW 6 123285461 splice site probably benign
R1818:Clec4e UTSW 6 123285493 missense possibly damaging 0.87
R1826:Clec4e UTSW 6 123283632 missense probably damaging 1.00
R1968:Clec4e UTSW 6 123283574 missense probably damaging 1.00
R2435:Clec4e UTSW 6 123288896 missense probably damaging 0.99
R4530:Clec4e UTSW 6 123289774 utr 5 prime probably benign
R6891:Clec4e UTSW 6 123283606 missense probably damaging 1.00
R7531:Clec4e UTSW 6 123285574 missense probably benign 0.10
Posted On2016-08-02