Incidental Mutation 'IGL01352:Chit1'
ID75402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chit1
Ensembl Gene ENSMUSG00000026450
Gene Namechitinase 1 (chitotriosidase)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL01352
Quality Score
Status
Chromosome1
Chromosomal Location134111242-134151540 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 134148490 bp
ZygosityHeterozygous
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]
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: 92,860,174 I1169V probably benign Het
AI464131 T A 4: 41,499,469 R54* probably null Het
B3gnt5 T C 16: 19,769,213 S61P probably damaging Het
Bambi G A 18: 3,512,071 A152T probably damaging Het
Cacna1c G A 6: 118,656,557 Q930* probably null Het
Ccdc178 A G 18: 22,018,974 probably benign Het
Cntnap5c C A 17: 58,293,901 N746K probably benign Het
Cyfip2 A T 11: 46,265,996 F422I probably benign Het
Dsg3 A G 18: 20,523,696 M208V probably benign Het
Erich6 G A 3: 58,622,360 probably null Het
Gbf1 A G 19: 46,265,215 H574R probably damaging Het
Gm17654 T G 14: 43,575,874 E186D probably damaging Het
Gm8165 T C 14: 43,676,116 N97S unknown Het
Ilf3 C T 9: 21,392,322 L160F possibly damaging Het
Krt84 T A 15: 101,528,774 Q318L probably damaging Het
Lrp2 T A 2: 69,503,526 H1457L possibly damaging Het
Lrrc37a T A 11: 103,499,355 D1748V probably benign Het
Mybl1 T C 1: 9,671,679 E676G probably damaging Het
Myo10 C A 15: 25,701,697 R53S probably damaging Het
Nrap A G 19: 56,379,836 S205P probably benign Het
Olfr1263 A G 2: 90,015,719 D263G probably damaging Het
Olfr67 A T 7: 103,788,078 Y66* probably null Het
Olfr904 A G 9: 38,464,734 N231S probably benign Het
Pkhd1 T A 1: 20,549,715 M894L probably benign Het
Ptpn13 G A 5: 103,486,775 probably null Het
Pycard T C 7: 127,993,502 D9G probably damaging Het
Rbfox3 G A 11: 118,505,613 probably benign Het
Rnf122 C T 8: 31,124,880 R71* probably null Het
Scel T A 14: 103,533,338 D69E possibly damaging Het
Spag6 T G 2: 18,710,473 M21R possibly damaging Het
Stat5a A G 11: 100,881,072 D650G probably damaging Het
Tarsl2 T C 7: 65,658,910 I276T possibly damaging Het
Tnfaip2 G T 12: 111,445,619 E151D probably damaging Het
Trio G A 15: 27,901,229 T313I probably benign Het
Ubqln4 A C 3: 88,564,468 M404L probably benign Het
Vps33b T A 7: 80,285,059 probably null Het
Wdfy3 A T 5: 101,944,120 V451D probably damaging Het
Zfp341 G T 2: 154,628,896 A278S probably benign Het
Zp3r C T 1: 130,619,356 A28T possibly damaging Het
Other mutations in Chit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Chit1 APN 1 134145254 missense probably damaging 1.00
IGL01344:Chit1 APN 1 134151314 missense probably damaging 1.00
IGL01620:Chit1 APN 1 134150519 missense probably damaging 1.00
IGL01795:Chit1 APN 1 134148429 missense probably damaging 1.00
IGL01924:Chit1 APN 1 134149410 missense probably benign 0.05
IGL02000:Chit1 APN 1 134146675 missense probably benign 0.01
IGL02891:Chit1 APN 1 134145310 missense probably benign 0.38
Debt UTSW 1 134149425 missense probably null 1.00
R0790:Chit1 UTSW 1 134138752 missense probably benign 0.00
R0838:Chit1 UTSW 1 134143337 nonsense probably null
R1783:Chit1 UTSW 1 134149394 missense possibly damaging 0.67
R1783:Chit1 UTSW 1 134149395 missense probably benign 0.03
R1784:Chit1 UTSW 1 134149394 missense possibly damaging 0.67
R1863:Chit1 UTSW 1 134151250 missense probably damaging 0.96
R1940:Chit1 UTSW 1 134145418 critical splice donor site probably null
R1950:Chit1 UTSW 1 134151230 missense probably damaging 1.00
R2045:Chit1 UTSW 1 134151144 missense probably benign 0.05
R2260:Chit1 UTSW 1 134151127 missense probably benign
R4552:Chit1 UTSW 1 134144051 missense probably benign 0.17
R5386:Chit1 UTSW 1 134149454 missense probably damaging 1.00
R5975:Chit1 UTSW 1 134146626 missense probably damaging 1.00
R6134:Chit1 UTSW 1 134144060 missense possibly damaging 0.94
R6196:Chit1 UTSW 1 134146643 nonsense probably null
R6482:Chit1 UTSW 1 134143242 missense probably damaging 0.98
R6923:Chit1 UTSW 1 134149425 missense probably null 1.00
R6952:Chit1 UTSW 1 134143284 missense probably damaging 1.00
R7022:Chit1 UTSW 1 134151292 missense probably benign 0.44
R7198:Chit1 UTSW 1 134150491 missense possibly damaging 0.87
R8079:Chit1 UTSW 1 134144027 missense possibly damaging 0.79
Posted On2013-10-07