Incidental Mutation 'IGL02724:Chil1'
ID305108
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: 0.090) question?
Stock #IGL02724
Quality Score
Status
Chromosome1
Chromosomal Location134182176-134190181 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 134189243 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 315 (E315A)
Ref Sequence ENSEMBL: ENSMUSP00000117117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038445] [ENSMUST00000082060] [ENSMUST00000132873] [ENSMUST00000133701] [ENSMUST00000153856] [ENSMUST00000156873] [ENSMUST00000191577]
Predicted Effect probably benign
Transcript: ENSMUST00000038445
SMART Domains Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451

DomainStartEndE-ValueType
low complexity region 41 66 N/A INTRINSIC
FN3 77 160 4.84e-9 SMART
IG 187 270 9.78e-7 SMART
FN3 273 355 1.1e-7 SMART
IGc2 400 467 1.38e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000082060
AA Change: E323A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: E323A

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: ENSMUST00000134812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144819
Predicted Effect probably damaging
Transcript: ENSMUST00000153856
AA Change: E315A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: E315A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 358 1.2e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156873
AA Change: E313A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: E313A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Glyco_18 20 356 1.2e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191577
SMART Domains Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451

DomainStartEndE-ValueType
low complexity region 41 66 N/A INTRINSIC
FN3 77 160 4.84e-9 SMART
IG 187 270 9.78e-7 SMART
FN3 273 355 1.1e-7 SMART
IGc2 400 467 1.38e-6 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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,845,776 K85Q probably damaging Het
Acmsd A T 1: 127,749,085 T116S possibly damaging Het
Agrn T A 4: 156,172,807 K1189* probably null Het
Alk T C 17: 71,985,460 R508G probably benign Het
Arhgap23 T A 11: 97,491,179 Y1123N probably damaging Het
Arl6ip5 G T 6: 97,232,404 M133I probably benign Het
Axin2 G A 11: 108,942,946 G573D possibly damaging Het
B4galt2 A G 4: 117,876,878 probably null Het
Baz2b G T 2: 59,977,374 D180E possibly damaging Het
Btnl6 G T 17: 34,508,175 Y460* probably null Het
C530008M17Rik T C 5: 76,858,459 V889A unknown Het
Cct7 A T 6: 85,459,149 D14V probably damaging Het
Cd55 T A 1: 130,449,412 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh2 C T 18: 16,629,480 R526Q probably benign Het
Cmya5 A G 13: 93,096,655 S642P probably benign Het
Cpm C A 10: 117,629,851 T43K probably damaging Het
Cyp8b1 A T 9: 121,915,387 V293D probably benign Het
Dock1 T G 7: 135,163,353 D1691E probably benign Het
Fasn T C 11: 120,809,833 D2120G probably benign Het
Gal3st4 T C 5: 138,265,417 K440R probably benign Het
Gfpt1 A T 6: 87,056,182 K130* probably null Het
Gpr26 T C 7: 131,974,392 probably null Het
Htr2a A T 14: 74,645,062 I163F probably damaging Het
Insrr A G 3: 87,809,572 D673G probably benign Het
Ipo8 G T 6: 148,791,481 C636* probably null Het
Kirrel C A 3: 87,090,473 E248* probably null Het
Lrp6 A G 6: 134,484,265 V743A probably damaging Het
Lrrc45 C A 11: 120,718,318 S374R probably benign Het
Map3k9 G A 12: 81,724,742 P714S probably benign Het
Mrgprb8 T A 7: 48,389,373 L264Q possibly damaging Het
Mroh4 C A 15: 74,606,151 W902L probably benign Het
Nfat5 T A 8: 107,358,735 D535E probably damaging Het
Nfatc3 T C 8: 106,108,185 V713A probably benign Het
Npc1l1 C T 11: 6,214,684 V1122M possibly damaging Het
Nsg2 A G 11: 32,055,011 probably null Het
Olfr1211 C A 2: 88,929,448 R289L probably damaging Het
Olfr282 T A 15: 98,437,779 F103L probably benign Het
Pax9 A T 12: 56,709,819 H314L possibly damaging Het
Phf21a A T 2: 92,360,247 I584F probably damaging Het
Pip5k1c A G 10: 81,313,462 E536G probably benign Het
Plekhm3 A G 1: 64,795,117 S736P probably damaging Het
Ppil2 A G 16: 17,103,602 Y73H probably benign Het
Ppp3cb T A 14: 20,523,577 probably null Het
Prdm9 A T 17: 15,563,260 S14R probably benign Het
Proc A G 18: 32,134,872 I71T probably damaging Het
Prom2 T A 2: 127,538,657 probably benign Het
Psd T C 19: 46,319,545 T675A probably benign Het
Rnf215 G T 11: 4,140,305 R341L probably damaging Het
Ryr3 A G 2: 112,902,576 probably null Het
Sh2d7 C A 9: 54,540,821 T42N probably benign Het
Sh3glb2 C T 2: 30,346,356 G279D probably benign Het
Slc25a46 A G 18: 31,605,815 probably benign Het
Snx17 T C 5: 31,197,046 S167P probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptbn4 G A 7: 27,367,679 R1937C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Srsf11 T C 3: 158,016,431 probably benign Het
Taar7b A T 10: 24,000,683 M249L probably benign Het
Tle6 G A 10: 81,600,064 Q6* probably null Het
Ttc30a2 T C 2: 75,976,338 E610G probably benign Het
Twnk G T 19: 45,008,118 R330L probably damaging Het
Unc13a C A 8: 71,656,305 probably benign Het
Vmn2r107 A G 17: 20,356,744 T335A possibly damaging Het
Wdtc1 A T 4: 133,297,478 S469R possibly damaging Het
Zfp382 A T 7: 30,133,737 Y271F probably benign Het
Other mutations in Chil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Chil1 APN 1 134187973 missense possibly damaging 0.89
IGL01305:Chil1 APN 1 134182816 splice site probably benign
IGL02051:Chil1 APN 1 134184149 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 On2015-04-16