Incidental Mutation 'IGL02948:Clec7a'
ID364856
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 #IGL02948
Quality Score
Status
Chromosome6
Chromosomal Location129461591-129472777 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 129465478 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 195 (D195E)
Ref Sequence ENSEMBL: ENSMUSP00000107707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112076] [ENSMUST00000184581] [ENSMUST00000195589]
PDB Structure
STRUCTURE OF MURINE DECTIN-1 [X-RAY DIFFRACTION]
STRUCTURE OF MURINE DECTIN-1 [X-RAY DIFFRACTION]
STRUCTURE OF MURINE DECTIN-1 [X-RAY DIFFRACTION]
DECTIN-1 IN COMPLEX WITH BETA-GLUCAN [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000112076
AA Change: D195E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: D195E

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
CLECT 119 241 2.01e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000184581
AA Change: D150E

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: D150E

DomainStartEndE-ValueType
low complexity region 48 69 N/A INTRINSIC
CLECT 74 196 2.01e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195589
AA Change: D195E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: D195E

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign 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
IGL01983:Clec7a APN 6 129465576 splice site probably benign
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 On2015-12-18