Incidental Mutation 'R9315:Clec4e'
ID 705838
Institutional Source Beutler Lab
Gene Symbol Clec4e
Ensembl Gene ENSMUSG00000030142
Gene Name C-type lectin domain family 4, member e
Synonyms Mincle, Clecsf9
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R9315 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 123258748-123266829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123263214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 109 (S109P)
Ref Sequence ENSEMBL: ENSMUSP00000032239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032239] [ENSMUST00000176096] [ENSMUST00000177367]
AlphaFold Q9R0Q8
Predicted Effect probably damaging
Transcript: ENSMUST00000032239
AA Change: S109P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032239
Gene: ENSMUSG00000030142
AA Change: S109P

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

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177367
AA Change: S80P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135081
Gene: ENSMUSG00000030142
AA Change: S80P

DomainStartEndE-ValueType
CLECT 51 177 4.82e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (43/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C T 11: 94,265,576 (GRCm39) R153H possibly damaging Het
Ankrd17 G A 5: 90,398,360 (GRCm39) S1730L probably damaging Het
Ano3 T C 2: 110,528,287 (GRCm39) E509G probably damaging Het
Cacna2d4 G T 6: 119,213,670 (GRCm39) A30S probably benign Het
Coa7 T A 4: 108,195,581 (GRCm39) L170Q probably benign Het
Col1a2 T A 6: 4,540,544 (GRCm39) I1334N unknown Het
Col6a3 A G 1: 90,738,979 (GRCm39) probably null Het
Cyp2j6 A G 4: 96,420,035 (GRCm39) I232T probably benign Het
Ddx52 T A 11: 83,837,033 (GRCm39) S175T probably benign Het
Dnah11 G A 12: 118,143,341 (GRCm39) S434F probably benign Het
Epn1 T C 7: 5,096,339 (GRCm39) V211A probably benign Het
Fads2b C A 2: 85,319,188 (GRCm39) K371N probably benign Het
Glb1 A G 9: 114,285,548 (GRCm39) N429S probably benign Het
Ifng A T 10: 118,278,588 (GRCm39) D83V probably damaging Het
Ints4 A G 7: 97,156,840 (GRCm39) probably benign Het
Lamb2 C T 9: 108,364,366 (GRCm39) R1102W possibly damaging Het
Ldlr T A 9: 21,644,782 (GRCm39) probably benign Het
Mdn1 T C 4: 32,760,911 (GRCm39) V4992A probably benign Het
Mrc1 T A 2: 14,248,969 (GRCm39) C168* probably null Het
Msantd5f3 A T 4: 73,575,280 (GRCm39) R320* probably null Het
Mug1 T A 6: 121,850,730 (GRCm39) V742D possibly damaging Het
Mxd1 T C 6: 86,627,926 (GRCm39) D204G probably damaging Het
Myo9b C A 8: 71,801,811 (GRCm39) A1322D possibly damaging Het
Nepn T A 10: 52,267,869 (GRCm39) I45N probably benign Het
Or13a22 T C 7: 140,072,935 (GRCm39) I128T probably damaging Het
Or14c46 A T 7: 85,918,495 (GRCm39) C167* probably null Het
Or4d5 T C 9: 40,012,270 (GRCm39) D172G probably benign Het
Paip1 A G 13: 119,586,516 (GRCm39) E271G probably benign Het
Pcnx2 T C 8: 126,614,119 (GRCm39) N444S probably benign Het
Pdcd6ip T C 9: 113,488,921 (GRCm39) T705A possibly damaging Het
Pik3r1 A G 13: 101,894,166 (GRCm39) M1T probably null Het
Rab33b T G 3: 51,401,000 (GRCm39) V158G probably damaging Het
Rab6a A G 7: 100,281,017 (GRCm39) I120V probably benign Het
Radil G T 5: 142,474,254 (GRCm39) H731N probably damaging Het
Rbm4b T C 19: 4,812,028 (GRCm39) S146P probably damaging Het
Rrn3 T C 16: 13,606,690 (GRCm39) Y99H probably benign Het
Saxo4 T A 19: 10,458,767 (GRCm39) S88C probably damaging Het
Syne1 G T 10: 5,283,553 (GRCm39) T1504K possibly damaging Het
Tas1r2 A G 4: 139,381,046 (GRCm39) Y56C possibly damaging Het
Tmprss3 T C 17: 31,403,644 (GRCm39) I386V probably null Het
Tns1 A G 1: 73,980,141 (GRCm39) C11R Het
Wdr11 A G 7: 129,208,264 (GRCm39) T340A probably benign Het
Zbtb49 A G 5: 38,358,082 (GRCm39) S724P probably benign Het
Zfp446 A G 7: 12,713,397 (GRCm39) K221R probably benign Het
Other mutations in Clec4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02713:Clec4e APN 6 123,263,263 (GRCm39) nonsense probably null
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
R9623:Clec4e UTSW 6 123,263,306 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AGTGACAGGGGCACATTTCAG -3'
(R):5'- GGCAGAACTTACAGCCACATAG -3'

Sequencing Primer
(F):5'- ATTTCAGCCCACACCATTGG -3'
(R):5'- TGAGGCATCAGGTATAACCATCTGC -3'
Posted On 2022-03-25