Incidental Mutation 'IGL02874:Clec4a3'
ID 362635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4a3
Ensembl Gene ENSMUSG00000043832
Gene Name C-type lectin domain family 4, member a3
Synonyms mDcir3, 3110037K17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02874
Quality Score
Status
Chromosome 6
Chromosomal Location 122929474-122946834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122944519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 188 (N188K)
Ref Sequence ENSEMBL: ENSMUSP00000112716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088468] [ENSMUST00000117173] [ENSMUST00000204427]
AlphaFold Q8JZX6
Predicted Effect probably benign
Transcript: ENSMUST00000088468
AA Change: N188K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832
AA Change: N188K

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117173
AA Change: N188K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832
AA Change: N188K

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204427
SMART Domains Protein: ENSMUSP00000144856
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
SCOP:d1e87a_ 71 109 1e-8 SMART
Blast:CLECT 73 109 2e-20 BLAST
PDB:3VYK|A 73 109 7e-13 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 60,039,701 (GRCm39) Y876H probably damaging Het
Cfap65 G A 1: 74,950,267 (GRCm39) Q1161* probably null Het
Chrd C T 16: 20,553,946 (GRCm39) T282I probably damaging Het
Clasp1 T C 1: 118,479,773 (GRCm39) S749P possibly damaging Het
Dmpk A G 7: 18,820,926 (GRCm39) M181V possibly damaging Het
Dnah7a A T 1: 53,644,973 (GRCm39) M1021K possibly damaging Het
Exoc5 A T 14: 49,288,903 (GRCm39) N48K probably benign Het
Golga1 A G 2: 38,929,104 (GRCm39) L338P probably damaging Het
Hdc T A 2: 126,443,596 (GRCm39) T334S probably benign Het
Idh2 A G 7: 79,747,621 (GRCm39) S300P probably damaging Het
Igkv4-78 T C 6: 69,037,190 (GRCm39) I7V probably benign Het
Impdh1 A T 6: 29,203,155 (GRCm39) M389K probably damaging Het
Kcnd2 T A 6: 21,216,922 (GRCm39) C209S probably damaging Het
Or11g25 G T 14: 50,723,686 (GRCm39) C257F possibly damaging Het
Or4q3 A T 14: 50,583,583 (GRCm39) H105Q probably damaging Het
Or56b2 C A 7: 104,337,230 (GRCm39) Q3K probably benign Het
Ovol1 T C 19: 5,601,209 (GRCm39) K194R probably damaging Het
Pcdh17 A T 14: 84,685,680 (GRCm39) I716F possibly damaging Het
Pck1 T C 2: 172,997,042 (GRCm39) I228T probably damaging Het
Pla2g2a T C 4: 138,562,159 (GRCm39) F132L probably benign Het
Prex1 A G 2: 166,426,967 (GRCm39) V1086A probably damaging Het
Rasd2 T C 8: 75,945,327 (GRCm39) I52T probably damaging Het
Robo1 T C 16: 72,809,806 (GRCm39) Y1185H probably damaging Het
Sema6c T G 3: 95,077,688 (GRCm39) V441G probably damaging Het
Slc9a4 A T 1: 40,623,198 (GRCm39) M146L probably benign Het
Thsd4 C T 9: 60,160,013 (GRCm39) V358I probably damaging Het
Ttbk1 T C 17: 46,781,151 (GRCm39) E474G probably benign Het
Ttbk2 T A 2: 120,576,193 (GRCm39) D928V probably damaging Het
Ttn C T 2: 76,641,522 (GRCm39) G11779S probably damaging Het
Wfdc6b T C 2: 164,459,368 (GRCm39) probably null Het
Other mutations in Clec4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Clec4a3 APN 6 122,929,819 (GRCm39) utr 5 prime probably benign
IGL02210:Clec4a3 APN 6 122,931,067 (GRCm39) missense probably damaging 0.98
IGL02983:Clec4a3 APN 6 122,944,526 (GRCm39) critical splice donor site probably null
R0035:Clec4a3 UTSW 6 122,944,508 (GRCm39) missense probably damaging 1.00
R0035:Clec4a3 UTSW 6 122,944,508 (GRCm39) missense probably damaging 1.00
R0334:Clec4a3 UTSW 6 122,946,329 (GRCm39) missense possibly damaging 0.81
R0671:Clec4a3 UTSW 6 122,930,993 (GRCm39) critical splice acceptor site probably null
R1508:Clec4a3 UTSW 6 122,944,467 (GRCm39) missense probably benign 0.05
R1739:Clec4a3 UTSW 6 122,931,000 (GRCm39) nonsense probably null
R3547:Clec4a3 UTSW 6 122,941,239 (GRCm39) missense probably damaging 1.00
R5836:Clec4a3 UTSW 6 122,929,861 (GRCm39) missense possibly damaging 0.66
R5953:Clec4a3 UTSW 6 122,946,451 (GRCm39) missense probably benign 0.12
R7178:Clec4a3 UTSW 6 122,941,251 (GRCm39) missense probably benign 0.02
R7664:Clec4a3 UTSW 6 122,943,381 (GRCm39) missense probably benign 0.03
R7763:Clec4a3 UTSW 6 122,941,299 (GRCm39) missense probably benign 0.01
R8739:Clec4a3 UTSW 6 122,944,508 (GRCm39) missense probably damaging 1.00
R8925:Clec4a3 UTSW 6 122,946,328 (GRCm39) missense probably damaging 1.00
R8927:Clec4a3 UTSW 6 122,946,328 (GRCm39) missense probably damaging 1.00
R8955:Clec4a3 UTSW 6 122,943,479 (GRCm39) missense possibly damaging 0.94
R9457:Clec4a3 UTSW 6 122,931,045 (GRCm39) missense probably benign 0.20
Posted On 2015-12-18