Incidental Mutation 'R6961:Clec1a'
ID 541755
Institutional Source Beutler Lab
Gene Symbol Clec1a
Ensembl Gene ENSMUSG00000033082
Gene Name C-type lectin domain family 1, member a
Synonyms 5930406N14Rik
MMRRC Submission 045071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6961 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 129403647-129428963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129406946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 190 (E190K)
Ref Sequence ENSEMBL: ENSMUSP00000047065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037481] [ENSMUST00000203162] [ENSMUST00000204012] [ENSMUST00000204952]
AlphaFold Q8BWY2
Predicted Effect probably benign
Transcript: ENSMUST00000037481
AA Change: E190K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047065
Gene: ENSMUSG00000033082
AA Change: E190K

DomainStartEndE-ValueType
Blast:CLECT 1 48 9e-23 BLAST
transmembrane domain 49 71 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
CLECT 136 257 7.55e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203162
SMART Domains Protein: ENSMUSP00000144896
Gene: ENSMUSG00000033082

DomainStartEndE-ValueType
Blast:CLECT 1 48 1e-23 BLAST
transmembrane domain 50 72 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
CLECT 136 205 5.1e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204012
SMART Domains Protein: ENSMUSP00000145071
Gene: ENSMUSG00000033082

DomainStartEndE-ValueType
Blast:CLECT 1 37 3e-16 BLAST
coiled coil region 49 87 N/A INTRINSIC
PDB:1MPU|A 100 146 2e-9 PDB
SCOP:d1k9ja_ 100 146 3e-13 SMART
Blast:CLECT 103 165 2e-42 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000204952
SMART Domains Protein: ENSMUSP00000145497
Gene: ENSMUSG00000033082

DomainStartEndE-ValueType
Blast:CLECT 1 41 1e-17 BLAST
Meta Mutation Damage Score 0.1360 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency 100% (51/51)
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 signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,024,148 (GRCm39) L168P probably damaging Het
Atp6v0d1 A G 8: 106,255,849 (GRCm39) L173P probably damaging Het
Baiap2l2 A G 15: 79,168,835 (GRCm39) F23L probably damaging Het
Cd200l1 T A 16: 45,264,366 (GRCm39) Y64F probably benign Het
Cdh23 G C 10: 60,485,893 (GRCm39) L41V probably benign Het
Cep120 C A 18: 53,836,277 (GRCm39) E803* probably null Het
Clcn7 C T 17: 25,376,188 (GRCm39) P560S probably damaging Het
Cldn12 A T 5: 5,557,707 (GRCm39) V240D probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Crispld1 T A 1: 17,832,365 (GRCm39) H450Q probably damaging Het
Dsc2 A T 18: 20,171,279 (GRCm39) N573K probably damaging Het
Fam186a T A 15: 99,838,082 (GRCm39) I2721F probably benign Het
Fbxl13 A G 5: 21,748,740 (GRCm39) F393S probably damaging Het
Fut1 A T 7: 45,268,963 (GRCm39) I306F probably damaging Het
Gas2l3 T C 10: 89,249,153 (GRCm39) D655G probably benign Het
Gm29106 A T 1: 118,128,128 (GRCm39) K607* probably null Het
Gm57858 T A 3: 36,104,766 (GRCm39) I32F possibly damaging Het
Hmg20a T C 9: 56,396,012 (GRCm39) V268A probably benign Het
Il2rb T A 15: 78,370,024 (GRCm39) Y205F probably damaging Het
Ints4 A G 7: 97,190,397 (GRCm39) *965W probably null Het
Itsn2 T A 12: 4,723,420 (GRCm39) C1118* probably null Het
Jakmip1 T C 5: 37,330,697 (GRCm39) L459P probably damaging Het
Klhl8 T C 5: 104,018,435 (GRCm39) T323A possibly damaging Het
Mindy3 C A 2: 12,400,989 (GRCm39) probably null Het
Myo3a A G 2: 22,250,369 (GRCm39) T79A probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Napa C T 7: 15,843,034 (GRCm39) R53* probably null Het
Nudt21 A C 8: 94,755,508 (GRCm39) D133E probably benign Het
Or2y3 T A 17: 38,393,096 (GRCm39) I258F probably damaging Het
Or4c115 T A 2: 88,928,149 (GRCm39) M41L probably benign Het
Or52b1 A T 7: 104,978,913 (GRCm39) I162K probably damaging Het
Or52s19 A G 7: 103,007,789 (GRCm39) V204A possibly damaging Het
Or56a41 A T 7: 104,741,978 (GRCm39) M16K probably benign Het
Or6c7 T C 10: 129,323,331 (GRCm39) F151L probably damaging Het
Pate13 G A 9: 35,819,740 (GRCm39) M1I probably null Het
Pira13 T C 7: 3,828,124 (GRCm39) Y61C probably damaging Het
Pla2g4e G T 2: 120,004,851 (GRCm39) probably null Het
Ptbp1 T C 10: 79,695,111 (GRCm39) probably null Het
Scfd2 A C 5: 74,680,202 (GRCm39) V317G possibly damaging Het
Slc45a1 T C 4: 150,714,110 (GRCm39) M712V probably damaging Het
Smg7 A T 1: 152,717,334 (GRCm39) L919* probably null Het
Sspo T A 6: 48,440,811 (GRCm39) S1758T probably benign Het
Tgfb2 A T 1: 186,382,032 (GRCm39) M165K possibly damaging Het
Tie1 C T 4: 118,343,402 (GRCm39) V154M probably damaging Het
Timm17a A G 1: 135,238,816 (GRCm39) probably benign Het
Tlr5 C T 1: 182,801,076 (GRCm39) R127* probably null Het
Ttc29 A C 8: 79,003,545 (GRCm39) I254L possibly damaging Het
Unc79 T C 12: 103,079,174 (GRCm39) S1780P probably damaging Het
Vmn2r106 A T 17: 20,488,646 (GRCm39) Y584* probably null Het
Zbtb24 A G 10: 41,331,171 (GRCm39) E366G probably damaging Het
Other mutations in Clec1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
Truck UTSW 6 129,413,918 (GRCm39) missense probably damaging 1.00
Turnip UTSW 6 129,406,946 (GRCm39) missense probably benign 0.21
R1666:Clec1a UTSW 6 129,413,967 (GRCm39) missense probably benign 0.07
R2413:Clec1a UTSW 6 129,412,218 (GRCm39) missense probably damaging 1.00
R6400:Clec1a UTSW 6 129,412,316 (GRCm39) splice site probably null
R6921:Clec1a UTSW 6 129,405,827 (GRCm39) missense probably damaging 1.00
R7218:Clec1a UTSW 6 129,413,918 (GRCm39) missense probably damaging 1.00
R7944:Clec1a UTSW 6 129,409,150 (GRCm39) missense probably benign
R7945:Clec1a UTSW 6 129,409,150 (GRCm39) missense probably benign
R8787:Clec1a UTSW 6 129,428,617 (GRCm39) missense possibly damaging 0.94
R9215:Clec1a UTSW 6 129,412,134 (GRCm39) missense possibly damaging 0.59
R9255:Clec1a UTSW 6 129,409,208 (GRCm39) missense probably benign 0.00
R9275:Clec1a UTSW 6 129,428,564 (GRCm39) splice site probably benign
R9449:Clec1a UTSW 6 129,428,606 (GRCm39) missense probably benign
Z1177:Clec1a UTSW 6 129,406,870 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CCTGCAAGCACACTTTCCAG -3'
(R):5'- AGGACTTCATGGCAGGTGTC -3'

Sequencing Primer
(F):5'- TTTCCAGATACAAAACAGATGCTC -3'
(R):5'- GACTTCATGGCAGGTGTCTTTCC -3'
Posted On 2018-11-28