Incidental Mutation 'IGL01105:Chodl'
ID 52927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chodl
Ensembl Gene ENSMUSG00000022860
Gene Name chondrolectin
Synonyms MT75, PRED12, 3110074E07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01105
Quality Score
Status
Chromosome 16
Chromosomal Location 78727836-78748621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78738151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 40 (Y40H)
Ref Sequence ENSEMBL: ENSMUSP00000156041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023568] [ENSMUST00000069148] [ENSMUST00000114216] [ENSMUST00000232415]
AlphaFold Q9CXM0
Predicted Effect probably damaging
Transcript: ENSMUST00000023568
AA Change: Y40H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
AA Change: Y40H

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: Y40H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
AA Change: Y40H

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: Y40H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860
AA Change: Y40H

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: Y40H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Cdkn2c C T 4: 109,518,823 (GRCm39) V44I probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Hephl1 T C 9: 15,000,320 (GRCm39) T311A possibly damaging Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Krtap9-5 A G 11: 99,839,459 (GRCm39) I53M unknown Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Lrig2 G A 3: 104,371,484 (GRCm39) R382* probably null Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Postn T G 3: 54,270,131 (GRCm39) I70S probably damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Rhebl1 C A 15: 98,776,379 (GRCm39) E139D probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Chodl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01632:Chodl APN 16 78,741,452 (GRCm39) intron probably benign
IGL01968:Chodl APN 16 78,738,557 (GRCm39) missense probably damaging 1.00
IGL03095:Chodl APN 16 78,738,321 (GRCm39) missense probably damaging 1.00
R0125:Chodl UTSW 16 78,738,311 (GRCm39) missense probably damaging 1.00
R1852:Chodl UTSW 16 78,738,146 (GRCm39) missense probably benign 0.01
R1938:Chodl UTSW 16 78,738,314 (GRCm39) missense possibly damaging 0.77
R2109:Chodl UTSW 16 78,738,251 (GRCm39) missense possibly damaging 0.58
R4362:Chodl UTSW 16 78,741,546 (GRCm39) critical splice donor site probably null
R4502:Chodl UTSW 16 78,728,332 (GRCm39) missense possibly damaging 0.65
R5299:Chodl UTSW 16 78,738,296 (GRCm39) missense probably damaging 0.99
R5386:Chodl UTSW 16 78,743,585 (GRCm39) missense probably damaging 1.00
R5677:Chodl UTSW 16 78,738,203 (GRCm39) missense probably damaging 1.00
R6959:Chodl UTSW 16 78,743,572 (GRCm39) missense probably damaging 1.00
R7138:Chodl UTSW 16 78,738,335 (GRCm39) missense probably damaging 1.00
R7147:Chodl UTSW 16 78,743,629 (GRCm39) missense probably damaging 1.00
R8065:Chodl UTSW 16 78,743,601 (GRCm39) missense probably damaging 1.00
R8067:Chodl UTSW 16 78,743,601 (GRCm39) missense probably damaging 1.00
R8193:Chodl UTSW 16 78,738,412 (GRCm39) missense probably damaging 1.00
R8924:Chodl UTSW 16 78,738,659 (GRCm39) missense possibly damaging 0.70
R9329:Chodl UTSW 16 78,746,030 (GRCm39) missense possibly damaging 0.83
X0067:Chodl UTSW 16 78,728,261 (GRCm39) missense possibly damaging 0.46
YA93:Chodl UTSW 16 78,738,170 (GRCm39) missense probably benign 0.11
Z1177:Chodl UTSW 16 78,738,351 (GRCm39) missense possibly damaging 0.58
Posted On 2013-06-21