Incidental Mutation 'R0790:Chit1'
ID 76424
Institutional Source Beutler Lab
Gene Symbol Chit1
Ensembl Gene ENSMUSG00000026450
Gene Name chitinase 1
Synonyms 2300002L19Rik
MMRRC Submission 038970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R0790 (G1)
Quality Score 178
Status Validated
Chromosome 1
Chromosomal Location 134038980-134079278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 134066490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 2 (V2G)
Ref Sequence ENSEMBL: ENSMUSP00000124331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086475] [ENSMUST00000159963] [ENSMUST00000160060]
AlphaFold Q9D7Q1
Predicted Effect probably benign
Transcript: ENSMUST00000086475
AA Change: V2G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: V2G

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: V2G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: V2G

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: V2G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: V2G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 354 2.47e-131 SMART
Meta Mutation Damage Score 0.0867 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.0%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A G 12: 8,060,245 (GRCm39) E2876G probably damaging Het
Arhgef28 A G 13: 98,117,914 (GRCm39) S585P possibly damaging Het
Atp11b T A 3: 35,887,072 (GRCm39) N685K probably damaging Het
Camsap2 C T 1: 136,201,475 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,316,935 (GRCm39) probably benign Het
Cdc23 A G 18: 34,784,666 (GRCm39) I32T possibly damaging Het
Cdca2 C T 14: 67,917,740 (GRCm39) D553N probably benign Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Cpsf4l A G 11: 113,597,234 (GRCm39) probably benign Het
Etaa1 G T 11: 17,896,051 (GRCm39) Q689K probably benign Het
Fam83h C T 15: 75,875,241 (GRCm39) V699I probably benign Het
Fry A G 5: 150,389,902 (GRCm39) D2545G probably benign Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Kif5a T C 10: 127,081,878 (GRCm39) probably benign Het
Lifr A G 15: 7,215,196 (GRCm39) T768A probably benign Het
Mrap2 T C 9: 87,064,835 (GRCm39) L192P possibly damaging Het
Myo18a G A 11: 77,731,535 (GRCm39) R840Q possibly damaging Het
Myrfl T C 10: 116,653,693 (GRCm39) D458G probably damaging Het
Or12j4 T C 7: 140,046,962 (GRCm39) S283P possibly damaging Het
Or51s1 A G 7: 102,558,843 (GRCm39) Y68H probably benign Het
Pcdh15 A G 10: 74,466,885 (GRCm39) E1034G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcb2 G A 2: 118,542,964 (GRCm39) probably benign Het
Psmd1 T C 1: 86,005,172 (GRCm39) V202A possibly damaging Het
Raet1d T C 10: 22,246,795 (GRCm39) I41T probably damaging Het
Retnlb T A 16: 48,637,589 (GRCm39) L5Q possibly damaging Het
Sh3rf1 T C 8: 61,782,292 (GRCm39) Y145H probably damaging Het
Smad7 C T 18: 75,526,933 (GRCm39) H260Y probably benign Het
Stk10 T C 11: 32,548,653 (GRCm39) V407A probably benign Het
Synpo A G 18: 60,736,575 (GRCm39) V218A probably damaging Het
Tll2 T A 19: 41,092,289 (GRCm39) Y499F probably damaging Het
Vrk1 C T 12: 106,036,883 (GRCm39) P390S probably benign Het
Zfp748 A C 13: 67,693,481 (GRCm39) L64W probably benign 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
IGL01352:Chit1 APN 1 134,076,228 (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
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
Predicted Primers PCR Primer
(F):5'- AGTTGCCAAAGACCACTGTGTCG -3'
(R):5'- AGCCCTTGAGCTGAAAACAGCC -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- CAGCCAAGCCAGGAGTCAG -3'
Posted On 2013-10-16