Incidental Mutation 'IGL01795:Chit1'
| ID |
155318 |
| 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 # |
IGL01795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134038980-134079278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134076167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
| 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: S275P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: S275P
| 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: S275P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: S275P
| 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: S275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: S275P
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
| B4galt1 |
T |
A |
4: 40,807,760 (GRCm39) |
D347V |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
| Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,108 (GRCm39) |
I376F |
probably damaging |
Het |
| Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
| Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
| Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
| Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
| Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,651,869 (GRCm39) |
T736A |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,215 (GRCm39) |
I74F |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
| Slc44a2 |
A |
C |
9: 21,256,645 (GRCm39) |
K336Q |
probably damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,390 (GRCm39) |
S596G |
probably benign |
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 |
|
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 |
2014-02-04 |
Incidental Mutation