Incidental Mutation 'IGL01383:Clec7a'
ID 78928
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 beta-GR, BGR, Clecsf12, dectin-1, beta-glucan receptor
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01383
Quality Score
Status
Chromosome 6
Chromosomal Location 129438554-129449742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129449603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 16 (T16A)
Ref Sequence ENSEMBL: ENSMUSP00000141234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112076] [ENSMUST00000184581] [ENSMUST00000195589]
AlphaFold Q6QLQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000112076
AA Change: T16A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: T16A

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
CLECT 119 241 2.01e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184581
AA Change: T16A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: T16A

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 damaging
Transcript: ENSMUST00000195589
AA Change: T16A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: T16A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Asb5 T A 8: 55,003,544 (GRCm39) L22H probably damaging Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cep97 T C 16: 55,731,970 (GRCm39) E534G probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Havcr2 T C 11: 46,360,375 (GRCm39) S152P probably damaging Het
Hvcn1 T C 5: 122,375,766 (GRCm39) V15A probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rab17 T G 1: 90,887,815 (GRCm39) D115A probably damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Clec7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Clec7a APN 6 129,442,449 (GRCm39) missense probably damaging 1.00
IGL01549:Clec7a APN 6 129,449,640 (GRCm39) nonsense probably null
IGL01886:Clec7a APN 6 129,440,140 (GRCm39) splice site probably benign
IGL01983:Clec7a APN 6 129,442,539 (GRCm39) splice site probably benign
IGL02948:Clec7a APN 6 129,442,441 (GRCm39) missense possibly damaging 0.92
R1210:Clec7a UTSW 6 129,442,488 (GRCm39) missense probably damaging 0.96
R1469:Clec7a UTSW 6 129,449,535 (GRCm39) splice site probably benign
R2126:Clec7a UTSW 6 129,447,918 (GRCm39) missense probably benign 0.02
R2246:Clec7a UTSW 6 129,444,532 (GRCm39) missense probably benign 0.27
R2887:Clec7a UTSW 6 129,447,960 (GRCm39) missense probably damaging 1.00
R3901:Clec7a UTSW 6 129,445,877 (GRCm39) missense possibly damaging 0.72
R5928:Clec7a UTSW 6 129,442,430 (GRCm39) missense probably damaging 0.99
R7218:Clec7a UTSW 6 129,445,885 (GRCm39) missense probably damaging 1.00
R8804:Clec7a UTSW 6 129,442,518 (GRCm39) missense probably benign 0.37
R9066:Clec7a UTSW 6 129,444,491 (GRCm39) missense probably benign
R9425:Clec7a UTSW 6 129,442,514 (GRCm39) missense probably damaging 1.00
R9474:Clec7a UTSW 6 129,440,126 (GRCm39) nonsense probably null
Posted On 2013-11-05