Incidental Mutation 'IGL01305:Chil1'
ID73424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chil1
Ensembl Gene ENSMUSG00000064246
Gene Namechitinase-like 1
SynonymsBrp39, Gp39, Chi3l1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01305
Quality Score
Status
Chromosome1
Chromosomal Location134182176-134190181 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 134182816 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082060] [ENSMUST00000132873] [ENSMUST00000133701] [ENSMUST00000153856] [ENSMUST00000156873]
Predicted Effect probably benign
Transcript: ENSMUST00000082060
SMART Domains Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Glyco_18 30 366 1.2e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132873
SMART Domains Protein: ENSMUSP00000118289
Gene: ENSMUSG00000064246

DomainStartEndE-ValueType
Pfam:Glyco_hydro_18 2 110 4.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133701
SMART Domains Protein: ENSMUSP00000121471
Gene: ENSMUSG00000064246

DomainStartEndE-ValueType
Pfam:Glyco_hydro_18 2 106 2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144819
Predicted Effect probably benign
Transcript: ENSMUST00000153856
SMART Domains Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 358 1.2e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156873
SMART Domains Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Glyco_18 20 356 1.2e-143 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show impaired OVA-induced Th2 responses with reduced splenocyte proliferation, cytokine production and IgE levels, impaired dendritic cell recruitment, higher CD4 T cell, macrophage and eosinophil apoptosis, and reduced CD4 T cell and alternatively activated macrophage numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,913,714 E663G possibly damaging Het
Adam29 T A 8: 55,871,844 H525L probably benign Het
Adamts6 T A 13: 104,390,082 V506E probably damaging Het
Ankfy1 G A 11: 72,764,791 E1101K probably damaging Het
Arap3 C T 18: 37,991,327 probably null Het
Asxl3 T A 18: 22,516,446 H497Q probably benign Het
Caln1 A G 5: 130,669,551 E96G probably damaging Het
Cdh23 T C 10: 60,312,624 T2653A probably damaging Het
Cdk5rap2 T A 4: 70,380,235 I87F possibly damaging Het
Col27a1 A G 4: 63,300,741 probably benign Het
Crybg3 T A 16: 59,529,227 H934L probably damaging Het
Cyp2d22 G A 15: 82,371,668 T461I probably damaging Het
Dhcr24 T C 4: 106,572,278 F183L possibly damaging Het
Dnajc13 T C 9: 104,230,637 probably null Het
Dusp16 A T 6: 134,718,861 S336T probably benign Het
F930017D23Rik T G 10: 43,604,375 noncoding transcript Het
Fasl A G 1: 161,781,838 V193A probably damaging Het
Fgf5 T C 5: 98,275,316 Y187H probably damaging Het
Focad C A 4: 88,393,547 Q1423K probably benign Het
Gabrp T C 11: 33,555,055 T249A probably damaging Het
Galnt5 A T 2: 58,025,342 K637* probably null Het
Gm20479 G A 7: 27,357,387 R2525* probably null Het
Grm6 A T 11: 50,859,519 D503V probably benign Het
Hmg20a A T 9: 56,487,650 D216V probably damaging Het
Lyst C T 13: 13,678,056 R2214C probably benign Het
Micu2 T A 14: 57,943,625 D184V probably damaging Het
Nabp2 T A 10: 128,408,762 I52F probably damaging Het
Nat8f7 A T 6: 85,707,588 L90* probably null Het
Olfr1297 T C 2: 111,621,201 N291S probably damaging Het
Olfr30 A T 11: 58,455,262 M229K probably damaging Het
Pphln1 A G 15: 93,489,104 E273G probably damaging Het
Ppil1 C A 17: 29,263,888 V14F possibly damaging Het
Relt A T 7: 100,851,698 L28Q probably damaging Het
Rpl21 A G 5: 146,834,186 probably benign Het
Rrp36 A T 17: 46,668,091 probably benign Het
St8sia5 G A 18: 77,254,662 G320D probably damaging Het
Taf2 T C 15: 55,048,274 E582G probably damaging Het
Tas2r116 T A 6: 132,855,443 N2K probably benign Het
Tmem168 A T 6: 13,583,046 V612E probably damaging Het
Unc79 A G 12: 103,001,871 S119G probably damaging Het
Washc5 T A 15: 59,355,839 K425* probably null Het
Wdr61 C A 9: 54,728,186 V44L probably damaging Het
Wtap G T 17: 12,967,895 T255K probably benign Het
Zfp148 T C 16: 33,456,943 V134A probably benign Het
Other mutations in Chil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Chil1 APN 1 134187973 missense possibly damaging 0.89
IGL02051:Chil1 APN 1 134184149 missense probably damaging 1.00
IGL02724:Chil1 APN 1 134189243 missense probably damaging 1.00
IGL02754:Chil1 APN 1 134183601 missense probably damaging 1.00
R0071:Chil1 UTSW 1 134185279 missense probably benign 0.08
R0071:Chil1 UTSW 1 134185279 missense probably benign 0.08
R0662:Chil1 UTSW 1 134188573 missense probably damaging 1.00
R1263:Chil1 UTSW 1 134189242 missense probably benign 0.02
R1728:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1729:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1730:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1739:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1762:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1783:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1784:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R1785:Chil1 UTSW 1 134188529 missense probably damaging 1.00
R4992:Chil1 UTSW 1 134188626 missense probably benign 0.03
R5860:Chil1 UTSW 1 134185171 missense probably benign 0.00
R6019:Chil1 UTSW 1 134189572 missense probably benign 0.00
R6320:Chil1 UTSW 1 134182258 start codon destroyed probably null 0.07
X0025:Chil1 UTSW 1 134183632 missense possibly damaging 0.62
Z1088:Chil1 UTSW 1 134189500 missense probably benign 0.00
Posted On2013-10-07