Incidental Mutation 'IGL02891:Chit1'
ID363191
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: 0.136) question?
Stock #IGL02891
Quality Score
Status
Chromosome1
Chromosomal Location134111242-134151540 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134145310 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 125 (S125G)
Ref Sequence ENSEMBL: ENSMUSP00000124331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086475] [ENSMUST00000159963] [ENSMUST00000160060]
Predicted Effect probably benign
Transcript: ENSMUST00000086475
AA Change: S125G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: S125G

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 benign
Transcript: ENSMUST00000159963
AA Change: S125G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: S125G

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 benign
Transcript: ENSMUST00000160060
AA Change: S125G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: S125G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik C T 3: 108,464,392 R672Q probably benign Het
Abca17 A G 17: 24,281,366 S1284P probably damaging Het
Adgrf1 T C 17: 43,311,161 V763A probably damaging Het
Adhfe1 T A 1: 9,558,171 M256K probably benign Het
Clu T A 14: 65,975,984 F273Y probably damaging Het
Dgki T C 6: 36,913,741 D869G probably benign Het
Emx1 T C 6: 85,204,085 probably benign Het
Ercc2 T G 7: 19,393,286 F316C probably damaging Het
Fam81a A G 9: 70,110,276 L129P probably damaging Het
Fat4 T A 3: 38,951,273 N1940K probably damaging Het
Fbxl13 G A 5: 21,522,100 probably benign Het
Kcnt2 T A 1: 140,574,806 D879E probably damaging Het
Kti12 T G 4: 108,848,533 S215A probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Ntn5 G T 7: 45,686,224 L26F probably damaging Het
Nwd2 A G 5: 63,725,227 N74S possibly damaging Het
Olfr109 T A 17: 37,466,944 V246E probably damaging Het
Olfr709-ps1 A G 7: 106,927,081 V126A probably damaging Het
Phactr4 T C 4: 132,387,023 D20G probably damaging Het
Ptpn23 G A 9: 110,388,020 Q923* probably null Het
Rfx6 T A 10: 51,723,846 S333T possibly damaging Het
Skint10 T A 4: 112,728,826 I198F probably benign Het
Spata5 T A 3: 37,426,192 V130D probably damaging Het
Taf3 G A 2: 9,921,227 P647L probably damaging Het
Tbcb T C 7: 30,233,434 probably benign Het
Tmem63c T C 12: 87,071,268 F216L probably benign Het
Ttc30b C T 2: 75,937,060 V450M possibly damaging Het
Uba5 A G 9: 104,054,193 probably benign Het
Usp34 C A 11: 23,487,166 Q217K probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r99 G A 17: 19,378,690 W212* probably null Het
Zfp687 G T 3: 95,011,946 P172T probably 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
IGL01352:Chit1 APN 1 134148490 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
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
R8278:Chit1 UTSW 1 134150594 missense probably benign 0.00
Posted On2015-12-18