Incidental Mutation 'R8278:Chit1'
ID 638050
Institutional Source Beutler Lab
Gene Symbol Chit1
Ensembl Gene ENSMUSG00000026450
Gene Name chitinase 1
Synonyms 2300002L19Rik
MMRRC Submission 067701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 134038980-134079278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134078332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 380 (R380Q)
Ref Sequence ENSEMBL: ENSMUSP00000083666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086475] [ENSMUST00000159963] [ENSMUST00000160060]
AlphaFold Q9D7Q1
Predicted Effect probably benign
Transcript: ENSMUST00000086475
AA Change: R380Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: R380Q

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: R380Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: R380Q

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
SMART Domains Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 354 2.47e-131 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,040 (GRCm39) Q477L probably benign Het
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
Fgf6 A T 6: 126,992,781 (GRCm39) Y78F probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Loxl3 G T 6: 83,025,697 (GRCm39) G352C probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nck2 T C 1: 43,593,740 (GRCm39) S316P probably damaging Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Sgsm1 A G 5: 113,407,958 (GRCm39) F898L probably damaging Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wdr33 G A 18: 31,960,405 (GRCm39) R23Q possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V 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
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
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
R8672:Chit1 UTSW 1 134,079,005 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTGTGGTAACTGAGCCTGTAG -3'
(R):5'- GAGGGAATCCATTACTACGCC -3'

Sequencing Primer
(F):5'- TGGTAACTGAGCCTGTAGCAACC -3'
(R):5'- CCGTCAGGTATTGTCAGCAG -3'
Posted On 2020-07-28