Incidental Mutation 'IGL01659:Clec4a4'
ID103114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4a4
Ensembl Gene ENSMUSG00000059639
Gene NameC-type lectin domain family 4, member a4
SynonymsDcir2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01659
Quality Score
Status
Chromosome6
Chromosomal Location122990367-123024105 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123023935 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 202 (E202D)
Ref Sequence ENSEMBL: ENSMUSP00000078351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079379]
PDB Structure
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 (apo form) [X-RAY DIFFRACTION]
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 in complex with N-glycan [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000079379
AA Change: E202D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078351
Gene: ENSMUSG00000059639
AA Change: E202D

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 230 1.72e-32 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,870,774 probably benign Het
Ankrd11 A G 8: 122,895,371 S581P probably damaging Het
Arl13b T C 16: 62,802,750 S370G possibly damaging Het
Cdr2 G T 7: 120,958,549 A251E probably damaging Het
Col14a1 T A 15: 55,446,172 probably benign Het
Dhfr A T 13: 92,355,670 probably null Het
Flnc A G 6: 29,448,671 T1303A probably damaging Het
Mug1 A T 6: 121,870,660 probably benign Het
Napepld A G 5: 21,675,716 V227A probably damaging Het
Nf1 A G 11: 79,559,449 E487G probably benign Het
Nlrp2 A G 7: 5,328,035 L454P probably damaging Het
Olfr1049 A T 2: 86,255,185 C169* probably null Het
Rad51 T A 2: 119,118,702 I61K probably benign Het
Rfx8 A T 1: 39,670,573 H431Q probably damaging Het
Sspo A G 6: 48,474,443 N2725S probably damaging Het
Trim16 A G 11: 62,820,695 E64G probably benign Het
Zfp879 T C 11: 50,838,454 Y39C probably damaging Het
Other mutations in Clec4a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Clec4a4 APN 6 123024016 nonsense probably null
IGL02455:Clec4a4 APN 6 123013780 missense possibly damaging 0.94
IGL02726:Clec4a4 APN 6 122990379 missense probably damaging 0.99
IGL03241:Clec4a4 APN 6 122990373 missense probably damaging 0.99
R0751:Clec4a4 UTSW 6 123012712 missense probably benign 0.12
R1184:Clec4a4 UTSW 6 123012712 missense probably benign 0.12
R1455:Clec4a4 UTSW 6 123012799 missense possibly damaging 0.60
R1474:Clec4a4 UTSW 6 123012744 missense probably benign 0.01
R1514:Clec4a4 UTSW 6 122990442 missense probably benign 0.26
R1779:Clec4a4 UTSW 6 123023975 missense probably damaging 1.00
R2138:Clec4a4 UTSW 6 123023978 missense probably damaging 0.99
R2182:Clec4a4 UTSW 6 123013757 critical splice acceptor site probably null
R2207:Clec4a4 UTSW 6 123013807 missense probably damaging 1.00
R3817:Clec4a4 UTSW 6 122990407 missense probably damaging 0.99
R5474:Clec4a4 UTSW 6 123012747 missense probably damaging 0.99
R5917:Clec4a4 UTSW 6 123004058 missense probably benign 0.25
R6164:Clec4a4 UTSW 6 122991874 missense possibly damaging 0.89
R6628:Clec4a4 UTSW 6 123012804 missense probably benign 0.23
R7212:Clec4a4 UTSW 6 122991745 splice site probably null
R7399:Clec4a4 UTSW 6 122991829 missense possibly damaging 0.86
R7808:Clec4a4 UTSW 6 122990380 missense probably damaging 0.96
X0013:Clec4a4 UTSW 6 123023912 missense probably damaging 1.00
Posted On2014-01-21