Incidental Mutation 'IGL02000:Chit1'
ID |
183010 |
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 # |
IGL02000
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
134038980-134079278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134074413 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 240
(E240G)
|
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: E240G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083666 Gene: ENSMUSG00000026450 AA Change: E240G
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 benign
Transcript: ENSMUST00000159963
AA Change: E240G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000123979 Gene: ENSMUSG00000026450 AA Change: E240G
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 benign
Transcript: ENSMUST00000160060
AA Change: E240G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000124331 Gene: ENSMUSG00000026450 AA Change: E240G
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
Ewsr1 |
T |
C |
11: 5,038,077 (GRCm39) |
D105G |
probably damaging |
Het |
Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
Mcidas |
T |
C |
13: 113,133,974 (GRCm39) |
S153P |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,556,175 (GRCm39) |
M542V |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,622,933 (GRCm39) |
E26G |
probably benign |
Het |
Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,460,900 (GRCm39) |
S337T |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
Usp10 |
T |
A |
8: 120,675,480 (GRCm39) |
Y63N |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
probably 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 |
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 |
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 |
2014-05-07 |