Incidental Mutation 'IGL00927:Chit1'
ID |
26646 |
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 # |
IGL00927
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
134038980-134079278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134072992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 106
(F106S)
|
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: F106S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083666 Gene: ENSMUSG00000026450 AA Change: F106S
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: F106S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123979 Gene: ENSMUSG00000026450 AA Change: F106S
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: F106S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124331 Gene: ENSMUSG00000026450 AA Change: F106S
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Chit1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |