Incidental Mutation 'IGL01549:Clec7a'
ID90542
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: 0.100) question?
Stock #IGL01549
Quality Score
Status
Chromosome6
Chromosomal Location129461591-129472777 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 129472677 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 3 (Y3*)
Ref Sequence ENSEMBL: ENSMUSP00000141234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112076] [ENSMUST00000184581] [ENSMUST00000195589]
Predicted Effect probably null
Transcript: ENSMUST00000112076
AA Change: Y3*
SMART Domains Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: Y3*

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
CLECT 119 241 2.01e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000184581
AA Change: Y3*
SMART Domains Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: Y3*

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 null
Transcript: ENSMUST00000195589
AA Change: Y3*
SMART Domains Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: Y3*

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,468,035 V259I possibly damaging Het
Abhd4 C T 14: 54,267,132 T273I probably damaging Het
Adamtsl3 T C 7: 82,612,448 S1691P probably damaging Het
Anapc1 A G 2: 128,653,170 S901P probably benign Het
Ank3 C T 10: 69,932,420 S56F probably damaging Het
Ccdc74a A G 16: 17,650,542 S343G probably benign Het
Il6 A G 5: 30,019,471 T170A probably benign Het
Itgax C A 7: 128,131,206 probably null Het
Lrrc17 A T 5: 21,570,290 R283S probably benign Het
Muc1 C T 3: 89,231,810 P533S probably damaging Het
Olfr1084 A C 2: 86,639,361 S116A probably benign Het
Olfr1084 T C 2: 86,639,532 M59V possibly damaging Het
Olfr1226 C T 2: 89,193,789 V82I probably benign Het
Olfr1426 T A 19: 12,087,965 I276F probably benign Het
Olfr16 T C 1: 172,956,974 Y60H probably damaging Het
Olfr702 T C 7: 106,824,029 I166V probably benign Het
Pcnt A C 10: 76,367,486 probably null Het
Pde4b A T 4: 102,605,068 D647V probably damaging Het
Phldb2 T C 16: 45,774,318 M875V probably benign Het
Prkar2b T C 12: 32,061,072 E4G possibly damaging Het
Rab2a C A 4: 8,582,393 S125Y probably benign Het
Samm50 A G 15: 84,202,781 I264V probably benign Het
Sgsh C T 11: 119,350,929 A90T probably damaging Het
Tap2 A G 17: 34,214,329 T489A probably benign Het
Wdr38 T G 2: 39,000,718 S201R probably damaging Het
Zfhx4 A G 3: 5,399,462 D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 T568A 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
IGL01886:Clec7a APN 6 129463177 splice site probably benign
IGL01983:Clec7a APN 6 129465576 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 On2013-12-09