Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Chit1'

180227

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) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

134038980-134079278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134077148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 317 (D317G)

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: D317G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: D317G

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: D317G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: D317G

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: D317G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: D317G

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,362,047 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Aox1	C	T	1: 58,326,902 (GRCm39)	T167I	possibly damaging	Het
Apba3	G	T	10: 81,108,907 (GRCm39)	A557S	probably benign	Het
Atad2b	T	C	12: 5,084,093 (GRCm39)	L1382P	probably damaging	Het
Atrn	C	T	2: 130,777,485 (GRCm39)	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,002,630 (GRCm39)	S88G	probably benign	Het
Baz2b	T	C	2: 59,765,615 (GRCm39)	K887E	probably damaging	Het
Castor2	T	C	5: 134,164,441 (GRCm39)	F134S	probably benign	Het
Ccdc162	A	C	10: 41,445,883 (GRCm39)	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,283,887 (GRCm39)		probably benign	Het
Cfhr4	G	A	1: 139,666,944 (GRCm39)	L444F	probably damaging	Het
Chrnb1	A	T	11: 69,685,845 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,596 (GRCm39)	T620K	probably benign	Het
Creld1	T	C	6: 113,460,921 (GRCm39)	F20L	probably benign	Het
Csmd2	A	T	4: 128,453,740 (GRCm39)	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,309,439 (GRCm39)	D259G	probably benign	Het
Dbnl	A	G	11: 5,747,142 (GRCm39)	Y224C	probably damaging	Het
Det1	A	T	7: 78,493,571 (GRCm39)	C144*	probably null	Het
Fbxo47	G	T	11: 97,746,986 (GRCm39)	A360D	probably damaging	Het
Frrs1	G	A	3: 116,678,888 (GRCm39)	G237R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gria2	T	C	3: 80,617,638 (GRCm39)	T372A	probably benign	Het
Hmcn2	A	T	2: 31,288,929 (GRCm39)	Q2246L	probably benign	Het
Ide	T	C	19: 37,249,563 (GRCm39)	M930V	unknown	Het
Kdm5a	T	C	6: 120,371,216 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,132,426 (GRCm39)	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,221,169 (GRCm39)	F209L	possibly damaging	Het
Med13	C	A	11: 86,199,522 (GRCm39)		probably benign	Het
Myom2	A	G	8: 15,119,685 (GRCm39)	E147G	probably benign	Het
Myrip	T	A	9: 120,217,330 (GRCm39)	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,460,482 (GRCm39)	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,020,255 (GRCm39)	C247*	probably null	Het
Nup54	G	A	5: 92,572,294 (GRCm39)	P252L	probably benign	Het
Or51ag1	A	G	7: 103,156,003 (GRCm39)	I50T	possibly damaging	Het
Otoa	C	A	7: 120,705,191 (GRCm39)	N244K	probably damaging	Het
Pbrm1	G	A	14: 30,804,561 (GRCm39)	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,875,411 (GRCm39)	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,106,134 (GRCm39)	L233H	probably damaging	Het
Sec24c	T	A	14: 20,739,757 (GRCm39)	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,240,686 (GRCm39)		probably null	Het
Slitrk1	G	A	14: 109,148,671 (GRCm39)	A680V	probably benign	Het
Smpd1	C	T	7: 105,204,655 (GRCm39)	S178L	probably benign	Het
Spindoc	A	G	19: 7,360,042 (GRCm39)	L42P	probably damaging	Het
Tenm4	A	G	7: 96,544,419 (GRCm39)	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,746,501 (GRCm39)	A18E	probably damaging	Het
Tmem213	A	T	6: 38,086,373 (GRCm39)	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,667,800 (GRCm39)	I102L	probably benign	Het
Trip11	T	G	12: 101,853,143 (GRCm39)	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr27	T	G	17: 15,137,488 (GRCm39)	K433N	probably damaging	Het
Wls	C	A	3: 159,607,080 (GRCm39)	S189*	probably null	Het
Yeats2	A	G	16: 20,024,917 (GRCm39)	N706D	probably damaging	Het
Zbp1	A	G	2: 173,054,047 (GRCm39)	V158A	probably benign	Het
Zfp595	G	T	13: 67,465,847 (GRCm39)	H139N	possibly 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
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

2014-05-07