Incidental Mutation 'R8278:Chit1'
ID 638050
Institutional Source Beutler Lab
Gene Symbol Chit1
Ensembl Gene ENSMUSG00000026450
Gene Name chitinase 1 (chitotriosidase)
Synonyms
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 134111242-134151540 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134150594 bp (GRCm38)
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: 4,850,176 (GRCm38) Q477L probably benign Het
Adcy10 A T 1: 165,503,288 (GRCm38) D40V probably damaging Het
Cab39l T C 14: 59,539,113 (GRCm38) Y248H probably damaging Het
Casr G T 16: 36,515,649 (GRCm38) D99E probably damaging Het
Cdh16 T C 8: 104,618,475 (GRCm38) E364G probably benign Het
Cep104 C T 4: 153,983,665 (GRCm38) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm38) probably null Het
Chd7 T A 4: 8,862,485 (GRCm38) probably null Het
Cpne2 A G 8: 94,554,688 (GRCm38) K174R probably damaging Het
Dchs2 T A 3: 83,271,003 (GRCm38) I1121N probably damaging Het
Fgf6 A T 6: 127,015,818 (GRCm38) Y78F probably damaging Het
H2-T10 A T 17: 36,118,940 (GRCm38) N320K probably benign Het
Heatr3 A T 8: 88,156,733 (GRCm38) N398I possibly damaging Het
Hrh4 T C 18: 13,007,227 (GRCm38) S60P probably damaging Het
Ikbip A G 10: 91,096,328 (GRCm38) H278R probably benign Het
Jmy A T 13: 93,464,716 (GRCm38) I394N probably damaging Het
Klhl8 T C 5: 103,874,241 (GRCm38) E314G probably benign Het
Lhx9 A T 1: 138,838,586 (GRCm38) C164S probably damaging Het
Loxl3 G T 6: 83,048,716 (GRCm38) G352C probably damaging Het
Lrrk1 A G 7: 66,278,684 (GRCm38) F1232S probably benign Het
Mpnd A G 17: 56,012,469 (GRCm38) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm38) D132E probably benign Het
Nck2 T C 1: 43,554,580 (GRCm38) S316P probably damaging Het
Nckap5 T C 1: 126,027,772 (GRCm38) S348G probably damaging Het
Nyap1 C T 5: 137,731,815 (GRCm38) R790H probably damaging Het
Or5b124 C T 19: 13,633,594 (GRCm38) T161I possibly damaging Het
Pdcd11 G A 19: 47,106,297 (GRCm38) V507I probably damaging Het
Pdzd2 T C 15: 12,375,909 (GRCm38) H1380R probably benign Het
Pgap1 C T 1: 54,490,271 (GRCm38) V763I probably benign Het
Pnma8b G T 7: 16,946,338 (GRCm38) V416L probably damaging Het
Prkn A T 17: 12,050,722 (GRCm38) N421Y probably benign Het
Prpf4 T C 4: 62,415,256 (GRCm38) probably null Het
Psmb5 C T 14: 54,617,885 (GRCm38) G36D probably benign Het
Ptprq A G 10: 107,686,378 (GRCm38) S571P possibly damaging Het
Rap1gap A C 4: 137,717,437 (GRCm38) S254R probably damaging Het
Rufy2 A T 10: 63,007,693 (GRCm38) D492V probably benign Het
Ryr2 C A 13: 11,595,506 (GRCm38) E4145* probably null Het
Sgsm1 A G 5: 113,260,092 (GRCm38) F898L probably damaging Het
Slc26a9 C A 1: 131,761,776 (GRCm38) A487D possibly damaging Het
Slc6a15 T C 10: 103,394,029 (GRCm38) probably null Het
Smad9 A T 3: 54,789,266 (GRCm38) T251S probably benign Het
Socs3 A T 11: 117,967,652 (GRCm38) C193* probably null Het
Sox6 T A 7: 115,476,964 (GRCm38) D813V probably damaging Het
Taf2 A T 15: 55,065,965 (GRCm38) L65* probably null Het
Taf6 G A 5: 138,179,835 (GRCm38) A468V probably benign Het
Tmem71 T C 15: 66,555,112 (GRCm38) D78G probably damaging Het
Tob2 T C 15: 81,851,087 (GRCm38) N227S probably benign Het
Trim34a C A 7: 104,249,416 (GRCm38) Q180K probably damaging Het
Ugt1a9 T C 1: 88,071,656 (GRCm38) L276P possibly damaging Het
Wdr33 G A 18: 31,827,352 (GRCm38) R23Q possibly damaging Het
Wnt7b T G 15: 85,543,686 (GRCm38) N189H Het
Zfp609 G A 9: 65,697,522 (GRCm38) A1308V possibly damaging Het
Other mutations in Chit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Chit1 APN 1 134,145,254 (GRCm38) missense probably damaging 1.00
IGL01344:Chit1 APN 1 134,151,314 (GRCm38) missense probably damaging 1.00
IGL01352:Chit1 APN 1 134,148,490 (GRCm38) missense probably damaging 1.00
IGL01620:Chit1 APN 1 134,150,519 (GRCm38) missense probably damaging 1.00
IGL01795:Chit1 APN 1 134,148,429 (GRCm38) missense probably damaging 1.00
IGL01924:Chit1 APN 1 134,149,410 (GRCm38) missense probably benign 0.05
IGL02000:Chit1 APN 1 134,146,675 (GRCm38) missense probably benign 0.01
IGL02891:Chit1 APN 1 134,145,310 (GRCm38) missense probably benign 0.38
Debt UTSW 1 134,149,425 (GRCm38) missense probably null 1.00
R0790:Chit1 UTSW 1 134,138,752 (GRCm38) missense probably benign 0.00
R0838:Chit1 UTSW 1 134,143,337 (GRCm38) nonsense probably null
R1783:Chit1 UTSW 1 134,149,395 (GRCm38) missense probably benign 0.03
R1783:Chit1 UTSW 1 134,149,394 (GRCm38) missense possibly damaging 0.67
R1784:Chit1 UTSW 1 134,149,394 (GRCm38) missense possibly damaging 0.67
R1863:Chit1 UTSW 1 134,151,250 (GRCm38) missense probably damaging 0.96
R1940:Chit1 UTSW 1 134,145,418 (GRCm38) critical splice donor site probably null
R1950:Chit1 UTSW 1 134,151,230 (GRCm38) missense probably damaging 1.00
R2045:Chit1 UTSW 1 134,151,144 (GRCm38) missense probably benign 0.05
R2260:Chit1 UTSW 1 134,151,127 (GRCm38) missense probably benign
R4552:Chit1 UTSW 1 134,144,051 (GRCm38) missense probably benign 0.17
R5386:Chit1 UTSW 1 134,149,454 (GRCm38) missense probably damaging 1.00
R5975:Chit1 UTSW 1 134,146,626 (GRCm38) missense probably damaging 1.00
R6134:Chit1 UTSW 1 134,144,060 (GRCm38) missense possibly damaging 0.94
R6196:Chit1 UTSW 1 134,146,643 (GRCm38) nonsense probably null
R6482:Chit1 UTSW 1 134,143,242 (GRCm38) missense probably damaging 0.98
R6923:Chit1 UTSW 1 134,149,425 (GRCm38) missense probably null 1.00
R6952:Chit1 UTSW 1 134,143,284 (GRCm38) missense probably damaging 1.00
R7022:Chit1 UTSW 1 134,151,292 (GRCm38) missense probably benign 0.44
R7198:Chit1 UTSW 1 134,150,491 (GRCm38) missense possibly damaging 0.87
R8079:Chit1 UTSW 1 134,144,027 (GRCm38) missense possibly damaging 0.79
R8672:Chit1 UTSW 1 134,151,267 (GRCm38) 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