Incidental Mutation 'IGL01352:Chit1'
ID 75402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chit1
Ensembl Gene ENSMUSG00000026450
Gene Name chitinase 1
Synonyms 2300002L19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL01352
Quality Score
Status
Chromosome 1
Chromosomal Location 134038980-134079278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134076228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 295 (T295M)
Ref Sequence ENSEMBL: ENSMUSP00000124331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086475] [ENSMUST00000159963] [ENSMUST00000160060]
AlphaFold Q9D7Q1
Predicted Effect probably damaging
Transcript: ENSMUST00000086475
AA Change: T295M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: T295M

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 361 6.69e-151 SMART
ChtBD2 416 464 5.56e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159963
AA Change: T295M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: T295M

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 361 6.69e-151 SMART
ChtBD2 416 464 5.56e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160060
AA Change: T295M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: T295M

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 354 2.47e-131 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced pulmonary fibrosis induced by bleomycin or IL13 expression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,837,155 (GRCm39) I1169V probably benign Het
B3gnt5 T C 16: 19,587,963 (GRCm39) S61P probably damaging Het
Bambi G A 18: 3,512,071 (GRCm39) A152T probably damaging Het
Cacna1c G A 6: 118,633,518 (GRCm39) Q930* probably null Het
Ccdc178 A G 18: 22,152,031 (GRCm39) probably benign Het
Cntnap5c C A 17: 58,600,896 (GRCm39) N746K probably benign Het
Cyfip2 A T 11: 46,156,823 (GRCm39) F422I probably benign Het
Dsg3 A G 18: 20,656,753 (GRCm39) M208V probably benign Het
Erich6 G A 3: 58,529,781 (GRCm39) probably null Het
Gbf1 A G 19: 46,253,654 (GRCm39) H574R probably damaging Het
Gm17654 T G 14: 43,813,331 (GRCm39) E186D probably damaging Het
Gm8165 T C 14: 43,913,573 (GRCm39) N97S unknown Het
Ilf3 C T 9: 21,303,618 (GRCm39) L160F possibly damaging Het
Krt84 T A 15: 101,437,209 (GRCm39) Q318L probably damaging Het
Lrp2 T A 2: 69,333,870 (GRCm39) H1457L possibly damaging Het
Lrrc37a T A 11: 103,390,181 (GRCm39) D1748V probably benign Het
Mybl1 T C 1: 9,741,904 (GRCm39) E676G probably damaging Het
Myo10 C A 15: 25,701,783 (GRCm39) R53S probably damaging Het
Myorg T A 4: 41,499,469 (GRCm39) R54* probably null Het
Nrap A G 19: 56,368,268 (GRCm39) S205P probably benign Het
Or4c52 A G 2: 89,846,063 (GRCm39) D263G probably damaging Het
Or52z1 A T 7: 103,437,285 (GRCm39) Y66* probably null Het
Or8b1b A G 9: 38,376,030 (GRCm39) N231S probably benign Het
Pkhd1 T A 1: 20,619,939 (GRCm39) M894L probably benign Het
Ptpn13 G A 5: 103,634,641 (GRCm39) probably null Het
Pycard T C 7: 127,592,674 (GRCm39) D9G probably damaging Het
Rbfox3 G A 11: 118,396,439 (GRCm39) probably benign Het
Rnf122 C T 8: 31,614,908 (GRCm39) R71* probably null Het
Scel T A 14: 103,770,774 (GRCm39) D69E possibly damaging Het
Spag6 T G 2: 18,715,284 (GRCm39) M21R possibly damaging Het
Stat5a A G 11: 100,771,898 (GRCm39) D650G probably damaging Het
Tars3 T C 7: 65,308,658 (GRCm39) I276T possibly damaging Het
Tnfaip2 G T 12: 111,412,053 (GRCm39) E151D probably damaging Het
Trio G A 15: 27,901,315 (GRCm39) T313I probably benign Het
Ubqln4 A C 3: 88,471,775 (GRCm39) M404L probably benign Het
Vps33b T A 7: 79,934,807 (GRCm39) probably null Het
Wdfy3 A T 5: 102,091,986 (GRCm39) V451D probably damaging Het
Zfp341 G T 2: 154,470,816 (GRCm39) A278S probably benign Het
Zp3r C T 1: 130,547,093 (GRCm39) A28T possibly damaging Het
Other mutations in Chit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Chit1 APN 1 134,072,992 (GRCm39) missense probably damaging 1.00
IGL01344:Chit1 APN 1 134,079,052 (GRCm39) missense probably damaging 1.00
IGL01620:Chit1 APN 1 134,078,257 (GRCm39) missense probably damaging 1.00
IGL01795:Chit1 APN 1 134,076,167 (GRCm39) missense probably damaging 1.00
IGL01924:Chit1 APN 1 134,077,148 (GRCm39) missense probably benign 0.05
IGL02000:Chit1 APN 1 134,074,413 (GRCm39) missense probably benign 0.01
IGL02891:Chit1 APN 1 134,073,048 (GRCm39) missense probably benign 0.38
Debt UTSW 1 134,077,163 (GRCm39) missense probably null 1.00
R0790:Chit1 UTSW 1 134,066,490 (GRCm39) missense probably benign 0.00
R0838:Chit1 UTSW 1 134,071,075 (GRCm39) nonsense probably null
R1783:Chit1 UTSW 1 134,077,133 (GRCm39) missense probably benign 0.03
R1783:Chit1 UTSW 1 134,077,132 (GRCm39) missense possibly damaging 0.67
R1784:Chit1 UTSW 1 134,077,132 (GRCm39) missense possibly damaging 0.67
R1863:Chit1 UTSW 1 134,078,988 (GRCm39) missense probably damaging 0.96
R1940:Chit1 UTSW 1 134,073,156 (GRCm39) critical splice donor site probably null
R1950:Chit1 UTSW 1 134,078,968 (GRCm39) missense probably damaging 1.00
R2045:Chit1 UTSW 1 134,078,882 (GRCm39) missense probably benign 0.05
R2260:Chit1 UTSW 1 134,078,865 (GRCm39) missense probably benign
R4552:Chit1 UTSW 1 134,071,789 (GRCm39) missense probably benign 0.17
R5386:Chit1 UTSW 1 134,077,192 (GRCm39) missense probably damaging 1.00
R5975:Chit1 UTSW 1 134,074,364 (GRCm39) missense probably damaging 1.00
R6134:Chit1 UTSW 1 134,071,798 (GRCm39) missense possibly damaging 0.94
R6196:Chit1 UTSW 1 134,074,381 (GRCm39) nonsense probably null
R6482:Chit1 UTSW 1 134,070,980 (GRCm39) missense probably damaging 0.98
R6923:Chit1 UTSW 1 134,077,163 (GRCm39) missense probably null 1.00
R6952:Chit1 UTSW 1 134,071,022 (GRCm39) missense probably damaging 1.00
R7022:Chit1 UTSW 1 134,079,030 (GRCm39) missense probably benign 0.44
R7198:Chit1 UTSW 1 134,078,229 (GRCm39) missense possibly damaging 0.87
R8079:Chit1 UTSW 1 134,071,765 (GRCm39) missense possibly damaging 0.79
R8278:Chit1 UTSW 1 134,078,332 (GRCm39) missense probably benign 0.00
R8672:Chit1 UTSW 1 134,079,005 (GRCm39) missense unknown
Posted On 2013-10-07