Incidental Mutation 'IGL00471:Clec4d'
ID5375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4d
Ensembl Gene ENSMUSG00000030144
Gene NameC-type lectin domain family 4, member d
SynonymsClecsf8, mcl, Mpcl, mMCL
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00471
Quality Score
Status
Chromosome6
Chromosomal Location123262111-123275265 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123274773 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 205 (I205F)
Ref Sequence ENSEMBL: ENSMUSP00000032240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032240] [ENSMUST00000204826]
Predicted Effect probably damaging
Transcript: ENSMUST00000032240
AA Change: I205F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032240
Gene: ENSMUSG00000030144
AA Change: I205F

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
CLECT 83 207 1.59e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203421
Predicted Effect probably benign
Transcript: ENSMUST00000204826
SMART Domains Protein: ENSMUSP00000145134
Gene: ENSMUSG00000030144

DomainStartEndE-ValueType
Blast:CLECT 28 77 1e-8 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to trehalose-6,60'-dimycolate treatment. Mice homozygous for a different knock-out allele exhibit increased susceptibility to pneumonia infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,509,542 V2793A probably damaging Het
Agbl2 A G 2: 90,801,045 Y249C probably damaging Het
Anks1 T C 17: 28,058,416 S1082P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
C4b T G 17: 34,734,429 T1027P probably damaging Het
Cpeb2 A T 5: 43,285,831 Y955F probably damaging Het
Cst13 T A 2: 148,830,304 M133K probably damaging Het
Dnah10 T C 5: 124,794,341 L2418P probably damaging Het
Gli3 T C 13: 15,723,769 probably null Het
Hgfac C A 5: 35,046,526 H463N probably damaging Het
Hlx A T 1: 184,731,595 F183I probably damaging Het
Ighv1-5 T G 12: 114,513,473 I70L probably benign Het
Ltbp2 T C 12: 84,791,064 T1181A probably damaging Het
Morn1 A C 4: 155,092,328 K140Q possibly damaging Het
Nek1 A T 8: 61,043,284 M358L probably benign Het
Pcbd2 C T 13: 55,776,600 probably benign Het
Pramel7 A T 2: 87,491,085 L202Q probably damaging Het
Shq1 A G 6: 100,664,483 S146P probably benign Het
Slc25a21 T C 12: 56,718,137 probably null Het
Slc26a7 A T 4: 14,548,403 probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Stam2 T C 2: 52,720,935 D25G probably damaging Het
Tbx18 A T 9: 87,705,623 D480E possibly damaging Het
Tmem26 A T 10: 68,778,681 I309F possibly damaging Het
Ube2c A G 2: 164,771,293 T44A probably benign Het
Other mutations in Clec4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0111:Clec4d UTSW 6 123268047 nonsense probably null
R0157:Clec4d UTSW 6 123267136 missense probably benign 0.00
R1756:Clec4d UTSW 6 123267109 missense probably damaging 0.99
R1928:Clec4d UTSW 6 123267161 splice site probably null
R1964:Clec4d UTSW 6 123262360 missense probably benign 0.05
R2208:Clec4d UTSW 6 123265355 missense probably damaging 0.98
R2443:Clec4d UTSW 6 123268117 missense probably benign 0.32
R4740:Clec4d UTSW 6 123268113 missense probably damaging 1.00
R5101:Clec4d UTSW 6 123267112 missense probably damaging 1.00
R5692:Clec4d UTSW 6 123268145 critical splice donor site probably null
R5785:Clec4d UTSW 6 123274770 missense probably benign 0.09
R5903:Clec4d UTSW 6 123267061 missense probably damaging 0.98
R6005:Clec4d UTSW 6 123267159 missense probably damaging 0.99
R6209:Clec4d UTSW 6 123270529 intron probably null
R7760:Clec4d UTSW 6 123270341 missense probably benign 0.01
Posted On2012-04-20