Incidental Mutation 'IGL01968:Chodl'
ID181587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chodl
Ensembl Gene ENSMUSG00000022860
Gene Namechondrolectin
SynonymsMT75, 3110074E07Rik, PRED12
Accession Numbers

Genbank: NM_139134 ; MGI: 2179069

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01968
Quality Score
Status
Chromosome16
Chromosomal Location78930948-78951733 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78941669 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 138 (S138T)
Ref Sequence ENSEMBL: ENSMUSP00000156041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023568] [ENSMUST00000069148] [ENSMUST00000114216] [ENSMUST00000232415]
Predicted Effect probably damaging
Transcript: ENSMUST00000023568
AA Change: S138T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
AA Change: S138T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 179 4.07e-25 SMART
transmembrane domain 218 240 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000069148
AA Change: S138T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
AA Change: S138T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 179 4.07e-25 SMART
transmembrane domain 218 240 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114216
AA Change: S138T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860
AA Change: S138T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 179 4.07e-25 SMART
transmembrane domain 218 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231883
Predicted Effect probably damaging
Transcript: ENSMUST00000232415
AA Change: S138T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T G 13: 68,611,244 H112Q probably damaging Het
4933425L06Rik T A 13: 105,119,830 M469K probably damaging Het
Abcb4 A G 5: 8,927,913 D497G probably benign Het
Adgra2 A T 8: 27,121,235 R856* probably null Het
Dnah8 C T 17: 30,656,598 R465* probably null Het
Fgfr2 A G 7: 130,185,248 W358R probably damaging Het
Iqgap2 G T 13: 95,635,582 A1363E possibly damaging Het
Malt1 T A 18: 65,449,016 I317K probably benign Het
Mrps5 A G 2: 127,591,907 N72S probably null Het
Mst1r T A 9: 107,916,806 probably null Het
Nars A T 18: 64,507,858 C176S probably damaging Het
Olfr723 A T 14: 49,929,098 W149R probably damaging Het
Plxna4 T G 6: 32,215,204 D817A possibly damaging Het
Plxnb1 C T 9: 109,100,984 P303S probably benign Het
Prkd2 G T 7: 16,869,576 probably null Het
Sulf1 A T 1: 12,818,451 H320L probably damaging Het
Use1 G A 8: 71,367,067 probably benign Het
Vmn2r6 T C 3: 64,556,345 D356G possibly damaging Het
Other mutations in Chodl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Chodl APN 16 78941263 missense probably damaging 1.00
IGL01632:Chodl APN 16 78944564 intron probably benign
IGL03095:Chodl APN 16 78941433 missense probably damaging 1.00
R0125:Chodl UTSW 16 78941423 missense probably damaging 1.00
R1852:Chodl UTSW 16 78941258 missense probably benign 0.01
R1938:Chodl UTSW 16 78941426 missense possibly damaging 0.77
R2109:Chodl UTSW 16 78941363 missense possibly damaging 0.58
R4362:Chodl UTSW 16 78944658 critical splice donor site probably null
R4502:Chodl UTSW 16 78931444 missense possibly damaging 0.65
R5299:Chodl UTSW 16 78941408 missense probably damaging 0.99
R5386:Chodl UTSW 16 78946697 missense probably damaging 1.00
R5677:Chodl UTSW 16 78941315 missense probably damaging 1.00
R6959:Chodl UTSW 16 78946684 missense probably damaging 1.00
R7138:Chodl UTSW 16 78941447 missense probably damaging 1.00
R7147:Chodl UTSW 16 78946741 missense probably damaging 1.00
R8065:Chodl UTSW 16 78946713 missense probably damaging 1.00
R8067:Chodl UTSW 16 78946713 missense probably damaging 1.00
R8193:Chodl UTSW 16 78941524 missense probably damaging 1.00
X0067:Chodl UTSW 16 78931373 missense possibly damaging 0.46
YA93:Chodl UTSW 16 78941282 missense probably benign 0.11
Z1177:Chodl UTSW 16 78941463 missense possibly damaging 0.58
Posted On2014-05-07