Incidental Mutation 'R6019:Chi3l1'
ID 478755
Institutional Source Beutler Lab
Gene Symbol Chi3l1
Ensembl Gene ENSMUSG00000064246
Gene Name chitinase 3 like 1
Synonyms Brp39, Chil1, Gp39
MMRRC Submission 044193-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6019 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134109894-134117769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134117310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 367 (F367S)
Ref Sequence ENSEMBL: ENSMUSP00000119205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038445] [ENSMUST00000082060] [ENSMUST00000132873] [ENSMUST00000133701] [ENSMUST00000156873] [ENSMUST00000153856] [ENSMUST00000191577]
AlphaFold Q61362
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: F377S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: F377S

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 probably benign
Transcript: ENSMUST00000156873
AA Change: F367S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: F367S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Glyco_18 20 356 1.2e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153856
AA Change: F369S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: F369S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 358 1.2e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144819
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 96% (81/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,201 (GRCm39) H436Y possibly damaging Het
Acad10 A T 5: 121,772,864 (GRCm39) H472Q possibly damaging Het
Ano8 G A 8: 71,935,024 (GRCm39) R393C probably damaging Het
Arhgap18 T A 10: 26,736,646 (GRCm39) V163E probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacng5 T C 11: 107,775,214 (GRCm39) M52V probably benign Het
Casz1 T C 4: 149,031,495 (GRCm39) C1249R probably damaging Het
Cenpj C T 14: 56,772,272 (GRCm39) S1086N probably benign Het
Copg2 A T 6: 30,787,868 (GRCm39) I610N possibly damaging Het
Cpa6 T C 1: 10,665,868 (GRCm39) K57E possibly damaging Het
D5Ertd579e C T 5: 36,787,036 (GRCm39) A111T possibly damaging Het
Dgat2 A G 7: 98,803,838 (GRCm39) M361T probably benign Het
Dnm3 G T 1: 161,962,070 (GRCm39) F46L probably damaging Het
Dph7 T A 2: 24,853,552 (GRCm39) C122* probably null Het
Dspp A T 5: 104,325,905 (GRCm39) D756V unknown Het
Efcab3 T C 11: 104,933,728 (GRCm39) probably null Het
Ep300 T A 15: 81,525,583 (GRCm39) M1469K unknown Het
Fsip2 T C 2: 82,818,283 (GRCm39) I4672T possibly damaging Het
Gapdh A T 6: 125,139,996 (GRCm39) L67* probably null Het
Gpr75 A G 11: 30,841,640 (GRCm39) R182G probably benign Het
Gsr G T 8: 34,183,835 (GRCm39) A366S probably damaging Het
Gypc A G 18: 32,663,248 (GRCm39) I33T probably damaging Het
Hapln1 A G 13: 89,756,219 (GRCm39) D341G probably benign Het
Hnrnpd A G 5: 100,115,095 (GRCm39) S148P probably benign Het
Hydin A T 8: 111,293,252 (GRCm39) T3450S probably benign Het
Kif20b T C 19: 34,927,864 (GRCm39) V1002A probably benign Het
Kif5c T C 2: 49,625,521 (GRCm39) V597A probably benign Het
Kntc1 A G 5: 123,900,579 (GRCm39) T226A probably benign Het
Krt75 C A 15: 101,482,158 (GRCm39) V37L probably benign Het
L3mbtl2 A G 15: 81,571,143 (GRCm39) I668V probably benign Het
Lrp1b G A 2: 41,192,982 (GRCm39) A480V probably damaging Het
Lrp1b T A 2: 41,366,821 (GRCm39) D485V probably damaging Het
Lrrc37a T C 11: 103,347,422 (GRCm39) H3091R unknown Het
Msi1 A G 5: 115,589,550 (GRCm39) Y361C probably damaging Het
Mtus1 G T 8: 41,536,077 (GRCm39) N546K probably benign Het
Mup17 T A 4: 61,511,936 (GRCm39) T113S probably benign Het
Myh11 T A 16: 14,023,938 (GRCm39) D1479V probably damaging Het
Ncor1 C T 11: 62,263,987 (GRCm39) E198K probably benign Het
Nrde2 A G 12: 100,098,501 (GRCm39) V722A probably benign Het
Or13a28 T C 7: 140,217,925 (GRCm39) F104L probably benign Het
Or51f23 C T 7: 102,453,491 (GRCm39) R269* probably null Het
Or5ac24 C T 16: 59,165,798 (GRCm39) D89N possibly damaging Het
Otog A G 7: 45,938,374 (GRCm39) M2028V probably benign Het
Paox T A 7: 139,711,655 (GRCm39) V169E probably damaging Het
Pcsk9 T G 4: 106,314,073 (GRCm39) D174A probably benign Het
Pde4b A G 4: 102,427,966 (GRCm39) E41G possibly damaging Het
Pip4k2c A G 10: 127,034,943 (GRCm39) I419T probably damaging Het
Plekhg3 G T 12: 76,624,715 (GRCm39) E1186* probably null Het
Pole C A 5: 110,472,380 (GRCm39) P1548T probably benign Het
Pole C T 5: 110,472,381 (GRCm39) P1548L probably benign Het
Polq A G 16: 36,882,126 (GRCm39) E1430G probably damaging Het
Potefam3c A T 8: 69,881,966 (GRCm39) C337S probably benign Het
Pramel47 G A 5: 95,488,072 (GRCm39) S2N probably damaging Het
Ptgr2 T C 12: 84,344,920 (GRCm39) S98P probably damaging Het
Ralgapa1 A G 12: 55,730,827 (GRCm39) Y1903H possibly damaging Het
Rasgrp1 T C 2: 117,122,376 (GRCm39) D338G probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnase13 C T 14: 52,159,860 (GRCm39) C93Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
S100z T A 13: 95,613,934 (GRCm39) M59L probably benign Het
Ska1 T A 18: 74,332,992 (GRCm39) D142V probably benign Het
Slc16a3 T C 11: 120,847,931 (GRCm39) probably null Het
Snd1 T C 6: 28,880,233 (GRCm39) V669A probably benign Het
Snrpd3 A T 10: 75,368,029 (GRCm39) T49S probably damaging Het
Sort1 T C 3: 108,264,549 (GRCm39) L856P possibly damaging Het
Srek1ip1 T A 13: 104,970,830 (GRCm39) probably null Het
Ssrp1 T C 2: 84,875,796 (GRCm39) S552P probably damaging Het
Stab2 A G 10: 86,838,886 (GRCm39) V60A probably benign Het
Stard9 GCCC GCC 2: 120,524,196 (GRCm39) probably null Het
Tll1 A C 8: 64,494,525 (GRCm39) H743Q possibly damaging Het
Tpo G T 12: 30,144,980 (GRCm39) R590S possibly damaging Het
Trbv12-1 A T 6: 41,090,780 (GRCm39) T51S probably benign Het
Trbv30 C T 6: 41,258,708 (GRCm39) A40V probably benign Het
Tulp4 T A 17: 6,283,490 (GRCm39) V1173E possibly damaging Het
Upk1a A T 7: 30,311,810 (GRCm39) probably null Het
Vinac1 T C 2: 128,879,610 (GRCm39) Q772R probably benign Het
Vmn1r199 A G 13: 22,566,769 (GRCm39) D21G possibly damaging Het
Vmn2r7 T C 3: 64,623,643 (GRCm39) T317A probably damaging Het
Wdfy3 A G 5: 101,997,289 (GRCm39) V3112A probably damaging Het
Zbtb8os T C 4: 129,234,542 (GRCm39) V40A possibly damaging Het
Zfp1002 T A 2: 150,097,132 (GRCm39) H99L probably damaging Het
Zwint A G 10: 72,492,685 (GRCm39) K108E possibly damaging Het
Other mutations in Chi3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Chi3l1 APN 1 134,115,711 (GRCm39) missense possibly damaging 0.89
IGL01305:Chi3l1 APN 1 134,110,554 (GRCm39) splice site probably benign
IGL02051:Chi3l1 APN 1 134,111,887 (GRCm39) missense probably damaging 1.00
IGL02724:Chi3l1 APN 1 134,116,981 (GRCm39) missense probably damaging 1.00
IGL02754:Chi3l1 APN 1 134,111,339 (GRCm39) missense probably damaging 1.00
R0071:Chi3l1 UTSW 1 134,113,017 (GRCm39) missense probably benign 0.08
R0071:Chi3l1 UTSW 1 134,113,017 (GRCm39) missense probably benign 0.08
R0662:Chi3l1 UTSW 1 134,116,311 (GRCm39) missense probably damaging 1.00
R1263:Chi3l1 UTSW 1 134,116,980 (GRCm39) missense probably benign 0.02
R1728:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1729:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1730:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1739:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1762:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1783:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1784:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R1785:Chi3l1 UTSW 1 134,116,267 (GRCm39) missense probably damaging 1.00
R4992:Chi3l1 UTSW 1 134,116,364 (GRCm39) missense probably benign 0.03
R5860:Chi3l1 UTSW 1 134,112,909 (GRCm39) missense probably benign 0.00
R6320:Chi3l1 UTSW 1 134,109,996 (GRCm39) start codon destroyed probably null 0.07
R7748:Chi3l1 UTSW 1 134,116,966 (GRCm39) missense probably benign 0.00
R8419:Chi3l1 UTSW 1 134,117,280 (GRCm39) missense probably damaging 1.00
R8992:Chi3l1 UTSW 1 134,115,662 (GRCm39) missense probably benign 0.01
R9051:Chi3l1 UTSW 1 134,111,919 (GRCm39) critical splice donor site probably null
R9238:Chi3l1 UTSW 1 134,115,685 (GRCm39) missense probably damaging 1.00
R9509:Chi3l1 UTSW 1 134,116,413 (GRCm39) missense probably damaging 1.00
RF012:Chi3l1 UTSW 1 134,112,909 (GRCm39) missense probably benign
X0025:Chi3l1 UTSW 1 134,111,370 (GRCm39) missense possibly damaging 0.62
Z1088:Chi3l1 UTSW 1 134,117,238 (GRCm39) missense probably benign 0.00
Z1176:Chi3l1 UTSW 1 134,116,968 (GRCm39) missense probably damaging 0.96
Z1176:Chi3l1 UTSW 1 134,110,517 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGAGGCTGTTTTGTTCCAAGCAG -3'
(R):5'- TTCTCCATAGCTGAGCCTGC -3'

Sequencing Primer
(F):5'- TTTGTTCCAAGCAGCAGGAG -3'
(R):5'- CATAGCTGAGCCTGCTGTGG -3'
Posted On 2017-06-26