Incidental Mutation 'IGL01983:Clec7a'
ID183546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec7a
Ensembl Gene ENSMUSG00000079293
Gene NameC-type lectin domain family 7, member a
SynonymsClecsf12, dectin-1, beta-glucan receptor, beta-GR, BGR
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01983
Quality Score
Status
Chromosome6
Chromosomal Location129461591-129472777 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 129465576 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112076] [ENSMUST00000184581] [ENSMUST00000195589]
Predicted Effect probably benign
Transcript: ENSMUST00000112076
SMART Domains Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
CLECT 119 241 2.01e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184581
SMART Domains Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293

DomainStartEndE-ValueType
low complexity region 48 69 N/A INTRINSIC
CLECT 74 196 2.01e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184861
SMART Domains Protein: ENSMUSP00000139162
Gene: ENSMUSG00000102040

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
CLECT 119 241 1e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195589
SMART Domains Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
CLECT 118 240 2.01e-24 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype Mutations in this gene result in increased susceptibility and defective inflammatory responses in response to fungal infection.
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Clec7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Clec7a APN 6 129465486 missense probably damaging 1.00
IGL01383:Clec7a APN 6 129472640 missense probably damaging 1.00
IGL01549:Clec7a APN 6 129472677 nonsense probably null
IGL01886:Clec7a APN 6 129463177 splice site probably benign
IGL02948:Clec7a APN 6 129465478 missense possibly damaging 0.92
R1210:Clec7a UTSW 6 129465525 missense probably damaging 0.96
R1469:Clec7a UTSW 6 129472572 splice site probably benign
R2126:Clec7a UTSW 6 129470955 missense probably benign 0.02
R2246:Clec7a UTSW 6 129467569 missense probably benign 0.27
R2887:Clec7a UTSW 6 129470997 missense probably damaging 1.00
R3901:Clec7a UTSW 6 129468914 missense possibly damaging 0.72
R5928:Clec7a UTSW 6 129465467 missense probably damaging 0.99
R7218:Clec7a UTSW 6 129468922 missense probably damaging 1.00
Posted On2014-05-07