Incidental Mutation 'R0790:Chit1'
ID |
76424 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chit1
|
Ensembl Gene |
ENSMUSG00000026450 |
Gene Name |
chitinase 1 |
Synonyms |
2300002L19Rik |
MMRRC Submission |
038970-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R0790 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
134038980-134079278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 134066490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 2
(V2G)
|
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: V2G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000083666 Gene: ENSMUSG00000026450 AA Change: V2G
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: V2G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123979 Gene: ENSMUSG00000026450 AA Change: V2G
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: V2G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124331 Gene: ENSMUSG00000026450 AA Change: V2G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Glyco_18
|
22 |
354 |
2.47e-131 |
SMART |
|
Meta Mutation Damage Score |
0.0867 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.0%
|
Validation Efficiency |
100% (41/41) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
A |
G |
12: 8,060,245 (GRCm39) |
E2876G |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,117,914 (GRCm39) |
S585P |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,887,072 (GRCm39) |
N685K |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,201,475 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,316,935 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
A |
G |
18: 34,784,666 (GRCm39) |
I32T |
possibly damaging |
Het |
Cdca2 |
C |
T |
14: 67,917,740 (GRCm39) |
D553N |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
Cpsf4l |
A |
G |
11: 113,597,234 (GRCm39) |
|
probably benign |
Het |
Etaa1 |
G |
T |
11: 17,896,051 (GRCm39) |
Q689K |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,875,241 (GRCm39) |
V699I |
probably benign |
Het |
Fry |
A |
G |
5: 150,389,902 (GRCm39) |
D2545G |
probably benign |
Het |
Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,878 (GRCm39) |
|
probably benign |
Het |
Lifr |
A |
G |
15: 7,215,196 (GRCm39) |
T768A |
probably benign |
Het |
Mrap2 |
T |
C |
9: 87,064,835 (GRCm39) |
L192P |
possibly damaging |
Het |
Myo18a |
G |
A |
11: 77,731,535 (GRCm39) |
R840Q |
possibly damaging |
Het |
Myrfl |
T |
C |
10: 116,653,693 (GRCm39) |
D458G |
probably damaging |
Het |
Or12j4 |
T |
C |
7: 140,046,962 (GRCm39) |
S283P |
possibly damaging |
Het |
Or51s1 |
A |
G |
7: 102,558,843 (GRCm39) |
Y68H |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,466,885 (GRCm39) |
E1034G |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,542,964 (GRCm39) |
|
probably benign |
Het |
Psmd1 |
T |
C |
1: 86,005,172 (GRCm39) |
V202A |
possibly damaging |
Het |
Raet1d |
T |
C |
10: 22,246,795 (GRCm39) |
I41T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,637,589 (GRCm39) |
L5Q |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,782,292 (GRCm39) |
Y145H |
probably damaging |
Het |
Smad7 |
C |
T |
18: 75,526,933 (GRCm39) |
H260Y |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,548,653 (GRCm39) |
V407A |
probably benign |
Het |
Synpo |
A |
G |
18: 60,736,575 (GRCm39) |
V218A |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,092,289 (GRCm39) |
Y499F |
probably damaging |
Het |
Vrk1 |
C |
T |
12: 106,036,883 (GRCm39) |
P390S |
probably benign |
Het |
Zfp748 |
A |
C |
13: 67,693,481 (GRCm39) |
L64W |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGCCAAAGACCACTGTGTCG -3'
(R):5'- AGCCCTTGAGCTGAAAACAGCC -3'
Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- CAGCCAAGCCAGGAGTCAG -3'
|
Posted On |
2013-10-16 |