Incidental Mutation 'IGL02713:Clec4e'
ID 304654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4e
Ensembl Gene ENSMUSG00000030142
Gene Name C-type lectin domain family 4, member e
Synonyms Mincle, Clecsf9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02713
Quality Score
Status
Chromosome 6
Chromosomal Location 123258748-123266829 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 123263263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 63 (Y63*)
Ref Sequence ENSEMBL: ENSMUSP00000135081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032239] [ENSMUST00000176096] [ENSMUST00000177367]
AlphaFold Q9R0Q8
Predicted Effect probably null
Transcript: ENSMUST00000032239
AA Change: Y92*
SMART Domains Protein: ENSMUSP00000032239
Gene: ENSMUSG00000030142
AA Change: Y92*

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 null
Transcript: ENSMUST00000177367
AA Change: Y63*
SMART Domains Protein: ENSMUSP00000135081
Gene: ENSMUSG00000030142
AA Change: Y63*

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,992 (GRCm39) T1588A possibly damaging Het
Apeh A T 9: 107,962,871 (GRCm39) L700Q probably damaging Het
Arid1b T C 17: 5,393,286 (GRCm39) I2272T probably damaging Het
Best3 T G 10: 116,860,434 (GRCm39) F565V probably benign Het
Birc6 A G 17: 74,886,319 (GRCm39) N521S probably benign Het
Cd209f T A 8: 4,153,732 (GRCm39) R191S probably benign Het
Cracdl C A 1: 37,663,218 (GRCm39) K893N possibly damaging Het
Cyp26c1 C T 19: 37,681,667 (GRCm39) T490M probably damaging Het
Cyp2b9 T A 7: 25,872,945 (GRCm39) H29Q probably benign Het
Cyp2d10 A C 15: 82,290,283 (GRCm39) probably benign Het
Dgat1 C A 15: 76,387,734 (GRCm39) R291L probably damaging Het
Dyrk1a C A 16: 94,486,204 (GRCm39) probably benign Het
Esp4 T C 17: 40,913,297 (GRCm39) F55L probably benign Het
Fam227a G A 15: 79,520,997 (GRCm39) probably benign Het
Ggt1 T C 10: 75,410,178 (GRCm39) Y37H probably damaging Het
Grsf1 A T 5: 88,820,589 (GRCm39) I64K probably damaging Het
Itga6 C T 2: 71,647,057 (GRCm39) T89I possibly damaging Het
Jph2 T C 2: 163,217,837 (GRCm39) T280A probably damaging Het
Lipm A G 19: 34,078,570 (GRCm39) M1V probably null Het
Nbeal1 C T 1: 60,274,396 (GRCm39) A513V possibly damaging Het
Or10a3 G A 7: 108,480,060 (GRCm39) T251I probably damaging Het
Or10a48 A T 7: 108,424,801 (GRCm39) M135K probably damaging Het
Or10q1b A T 19: 13,682,553 (GRCm39) I121F possibly damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or8b101 C T 9: 38,020,623 (GRCm39) P214S probably damaging Het
Orc6 A G 8: 86,034,215 (GRCm39) E146G probably benign Het
Patl2 A G 2: 121,956,328 (GRCm39) S179P probably benign Het
Pdzd8 C A 19: 59,333,890 (GRCm39) G44C probably damaging Het
Phox2b A G 5: 67,253,938 (GRCm39) probably benign Het
Ppp4r3b T G 11: 29,138,445 (GRCm39) H264Q probably damaging Het
Ptprk T C 10: 28,468,807 (GRCm39) I1409T possibly damaging Het
Pum1 T A 4: 130,493,323 (GRCm39) I842N probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sgca T A 11: 94,862,131 (GRCm39) N174Y probably damaging Het
Slc7a14 A T 3: 31,311,912 (GRCm39) L36Q probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stard13 G A 5: 150,965,651 (GRCm39) Q935* probably null Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Sv2b A T 7: 74,773,911 (GRCm39) L520Q possibly damaging Het
Tmem26 T C 10: 68,587,125 (GRCm39) F191S probably damaging Het
Other mutations in Clec4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03051:Clec4e APN 6 123,266,692 (GRCm39) missense probably benign 0.02
IGL03201:Clec4e APN 6 123,260,599 (GRCm39) missense probably benign 0.03
R0583:Clec4e UTSW 6 123,260,653 (GRCm39) missense probably damaging 1.00
R1467:Clec4e UTSW 6 123,262,420 (GRCm39) splice site probably benign
R1818:Clec4e UTSW 6 123,262,452 (GRCm39) missense possibly damaging 0.87
R1826:Clec4e UTSW 6 123,260,591 (GRCm39) missense probably damaging 1.00
R1968:Clec4e UTSW 6 123,260,533 (GRCm39) missense probably damaging 1.00
R2435:Clec4e UTSW 6 123,265,855 (GRCm39) missense probably damaging 0.99
R4530:Clec4e UTSW 6 123,266,733 (GRCm39) utr 5 prime probably benign
R6891:Clec4e UTSW 6 123,260,565 (GRCm39) missense probably damaging 1.00
R7531:Clec4e UTSW 6 123,262,533 (GRCm39) missense probably benign 0.10
R8476:Clec4e UTSW 6 123,263,235 (GRCm39) missense probably benign
R9315:Clec4e UTSW 6 123,263,214 (GRCm39) missense probably damaging 1.00
R9623:Clec4e UTSW 6 123,263,306 (GRCm39) missense probably benign 0.20
Posted On 2015-04-16