Incidental Mutation 'IGL01886:Clec7a'
ID 179158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec7a
Ensembl Gene ENSMUSG00000079293
Gene Name C-type lectin domain family 7, member a
Synonyms Clecsf12, dectin-1, beta-glucan receptor, beta-GR, BGR
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01886
Quality Score
Status
Chromosome 6
Chromosomal Location 129461591-129472777 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 129463177 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112076] [ENSMUST00000184581] [ENSMUST00000195589]
AlphaFold Q6QLQ4
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 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
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript 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
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
R8804:Clec7a UTSW 6 129465555 missense probably benign 0.37
R9066:Clec7a UTSW 6 129467528 missense probably benign
R9425:Clec7a UTSW 6 129465551 missense probably damaging 1.00
Posted On 2014-05-07