Incidental Mutation 'IGL02891:Chit1'
| ID |
363191 |
| 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 # |
IGL02891
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134038980-134079278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134073048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 125
(S125G)
|
| 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: S125G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: S125G
| 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: S125G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: S125G
| 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: S125G
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: S125G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,500,340 (GRCm39) |
S1284P |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,622,052 (GRCm39) |
V763A |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,628,396 (GRCm39) |
M256K |
probably benign |
Het |
| Afg2a |
T |
A |
3: 37,480,341 (GRCm39) |
V130D |
probably damaging |
Het |
| Clu |
T |
A |
14: 66,213,433 (GRCm39) |
F273Y |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,890,676 (GRCm39) |
D869G |
probably benign |
Het |
| Elapor1 |
C |
T |
3: 108,371,708 (GRCm39) |
R672Q |
probably benign |
Het |
| Emx1 |
T |
C |
6: 85,181,067 (GRCm39) |
|
probably benign |
Het |
| Ercc2 |
T |
G |
7: 19,127,211 (GRCm39) |
F316C |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,017,558 (GRCm39) |
L129P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,422 (GRCm39) |
N1940K |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,727,098 (GRCm39) |
|
probably benign |
Het |
| Ift70b |
C |
T |
2: 75,767,404 (GRCm39) |
V450M |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,502,544 (GRCm39) |
D879E |
probably damaging |
Het |
| Kti12 |
T |
G |
4: 108,705,730 (GRCm39) |
S215A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,335,648 (GRCm39) |
L26F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,882,570 (GRCm39) |
N74S |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,835 (GRCm39) |
V246E |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,288 (GRCm39) |
V126A |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,114,334 (GRCm39) |
D20G |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,088 (GRCm39) |
Q923* |
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,599,942 (GRCm39) |
S333T |
possibly damaging |
Het |
| Skint10 |
T |
A |
4: 112,586,023 (GRCm39) |
I198F |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,926,038 (GRCm39) |
P647L |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,932,859 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,118,042 (GRCm39) |
F216L |
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,931,392 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,437,166 (GRCm39) |
Q217K |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,598,952 (GRCm39) |
W212* |
probably null |
Het |
| Zfp687 |
G |
T |
3: 94,919,257 (GRCm39) |
P172T |
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 |
|
IGL02000:Chit1
|
APN |
1 |
134,074,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-12-18 |
Incidental Mutation