Incidental Mutation 'IGL01352:Chit1'
ID |
75402 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chit1
|
Ensembl Gene |
ENSMUSG00000026450 |
Gene Name |
chitinase 1 |
Synonyms |
2300002L19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
IGL01352
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
134038980-134079278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 134076228 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q9D7Q1 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,837,155 (GRCm39) |
I1169V |
probably benign |
Het |
B3gnt5 |
T |
C |
16: 19,587,963 (GRCm39) |
S61P |
probably damaging |
Het |
Bambi |
G |
A |
18: 3,512,071 (GRCm39) |
A152T |
probably damaging |
Het |
Cacna1c |
G |
A |
6: 118,633,518 (GRCm39) |
Q930* |
probably null |
Het |
Ccdc178 |
A |
G |
18: 22,152,031 (GRCm39) |
|
probably benign |
Het |
Cntnap5c |
C |
A |
17: 58,600,896 (GRCm39) |
N746K |
probably benign |
Het |
Cyfip2 |
A |
T |
11: 46,156,823 (GRCm39) |
F422I |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,656,753 (GRCm39) |
M208V |
probably benign |
Het |
Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
Gbf1 |
A |
G |
19: 46,253,654 (GRCm39) |
H574R |
probably damaging |
Het |
Gm17654 |
T |
G |
14: 43,813,331 (GRCm39) |
E186D |
probably damaging |
Het |
Gm8165 |
T |
C |
14: 43,913,573 (GRCm39) |
N97S |
unknown |
Het |
Ilf3 |
C |
T |
9: 21,303,618 (GRCm39) |
L160F |
possibly damaging |
Het |
Krt84 |
T |
A |
15: 101,437,209 (GRCm39) |
Q318L |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,333,870 (GRCm39) |
H1457L |
possibly damaging |
Het |
Lrrc37a |
T |
A |
11: 103,390,181 (GRCm39) |
D1748V |
probably benign |
Het |
Mybl1 |
T |
C |
1: 9,741,904 (GRCm39) |
E676G |
probably damaging |
Het |
Myo10 |
C |
A |
15: 25,701,783 (GRCm39) |
R53S |
probably damaging |
Het |
Myorg |
T |
A |
4: 41,499,469 (GRCm39) |
R54* |
probably null |
Het |
Nrap |
A |
G |
19: 56,368,268 (GRCm39) |
S205P |
probably benign |
Het |
Or4c52 |
A |
G |
2: 89,846,063 (GRCm39) |
D263G |
probably damaging |
Het |
Or52z1 |
A |
T |
7: 103,437,285 (GRCm39) |
Y66* |
probably null |
Het |
Or8b1b |
A |
G |
9: 38,376,030 (GRCm39) |
N231S |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,619,939 (GRCm39) |
M894L |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,634,641 (GRCm39) |
|
probably null |
Het |
Pycard |
T |
C |
7: 127,592,674 (GRCm39) |
D9G |
probably damaging |
Het |
Rbfox3 |
G |
A |
11: 118,396,439 (GRCm39) |
|
probably benign |
Het |
Rnf122 |
C |
T |
8: 31,614,908 (GRCm39) |
R71* |
probably null |
Het |
Scel |
T |
A |
14: 103,770,774 (GRCm39) |
D69E |
possibly damaging |
Het |
Spag6 |
T |
G |
2: 18,715,284 (GRCm39) |
M21R |
possibly damaging |
Het |
Stat5a |
A |
G |
11: 100,771,898 (GRCm39) |
D650G |
probably damaging |
Het |
Tars3 |
T |
C |
7: 65,308,658 (GRCm39) |
I276T |
possibly damaging |
Het |
Tnfaip2 |
G |
T |
12: 111,412,053 (GRCm39) |
E151D |
probably damaging |
Het |
Trio |
G |
A |
15: 27,901,315 (GRCm39) |
T313I |
probably benign |
Het |
Ubqln4 |
A |
C |
3: 88,471,775 (GRCm39) |
M404L |
probably benign |
Het |
Vps33b |
T |
A |
7: 79,934,807 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 102,091,986 (GRCm39) |
V451D |
probably damaging |
Het |
Zfp341 |
G |
T |
2: 154,470,816 (GRCm39) |
A278S |
probably benign |
Het |
Zp3r |
C |
T |
1: 130,547,093 (GRCm39) |
A28T |
possibly damaging |
Het |
|
Other mutations in Chit1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
R8278:Chit1
|
UTSW |
1 |
134,078,332 (GRCm39) |
missense |
probably benign |
0.00 |
R8672:Chit1
|
UTSW |
1 |
134,079,005 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-10-07 |