Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Chit1'

545666

Institutional Source

Beutler Lab

Gene Symbol

Chit1

Ensembl Gene

ENSMUSG00000026450

Gene Name

chitinase 1

Synonyms

2300002L19Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134038980-134079278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134079030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 447 (S447G)

Ref Sequence

ENSEMBL: ENSMUSP00000123979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086475] [ENSMUST00000159963] [ENSMUST00000160060]

AlphaFold

Q9D7Q1

Predicted Effect

probably benign
Transcript: ENSMUST00000086475
AA Change: S447G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: S447G

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: S447G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: S447G

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

silent
Transcript: ENSMUST00000160060

SMART Domains

Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Glyco_18	22	354	2.47e-131	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,974,326 (GRCm39)	S203T	probably damaging	Het
Adat1	A	T	8: 112,716,494 (GRCm39)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,014,780 (GRCm39)	V56L	probably benign	Het
Ascc3	T	A	10: 50,592,725 (GRCm39)	L1134I	possibly damaging	Het
C3	T	G	17: 57,524,286 (GRCm39)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,503,395 (GRCm39)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,122,612 (GRCm39)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,306,866 (GRCm39)		probably null	Het
Cdca7	T	A	2: 72,309,873 (GRCm39)		probably null	Het
Cmya5	C	T	13: 93,205,786 (GRCm39)		probably null	Het
Cnnm2	A	T	19: 46,750,989 (GRCm39)	I260F	probably damaging	Het
Cnnm2	T	A	19: 46,847,379 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,534,639 (GRCm39)	L881P	unknown	Het
Crebbp	A	T	16: 3,935,187 (GRCm39)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,321,637 (GRCm39)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,370,005 (GRCm39)	P4477S	probably benign	Het
Donson	A	G	16: 91,478,218 (GRCm39)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,375,716 (GRCm39)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,136,961 (GRCm39)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,702,093 (GRCm39)	E60D	probably damaging	Het
Erfl	A	T	7: 24,631,089 (GRCm39)		probably null	Het
Fam83b	TAAGA	T	9: 76,409,394 (GRCm39)		probably null	Het
Fbxo38	A	G	18: 62,669,295 (GRCm39)	C52R	probably damaging	Het
Gm10912	T	C	2: 103,897,055 (GRCm39)	W65R	probably damaging	Het
Gm43518	A	T	5: 124,074,490 (GRCm39)	M44L	probably benign	Het
Gnb1	T	A	4: 155,637,913 (GRCm39)	D212E	probably damaging	Het
Gnl1	A	G	17: 36,299,620 (GRCm39)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,886,855 (GRCm39)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,586,834 (GRCm39)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,496,193 (GRCm39)	S29P	probably damaging	Het
Ints6	A	G	14: 62,951,786 (GRCm39)	V232A	probably damaging	Het
Jup	A	G	11: 100,270,379 (GRCm39)	L376P	probably damaging	Het
Kdr	A	T	5: 76,132,920 (GRCm39)	Y119*	probably null	Het
Kif1a	T	G	1: 92,993,820 (GRCm39)	T377P	probably benign	Het
Lama5	C	A	2: 179,822,524 (GRCm39)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,313,552 (GRCm39)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,356,763 (GRCm39)	Q255*	probably null	Het
Msh3	A	C	13: 92,372,096 (GRCm39)	D891E	probably damaging	Het
Msl2	A	G	9: 100,957,335 (GRCm39)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,791,373 (GRCm39)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,548,787 (GRCm39)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,987,319 (GRCm39)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,401,825 (GRCm39)	D34E	probably damaging	Het
Nup205	T	A	6: 35,220,871 (GRCm39)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,420,942 (GRCm39)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,581,482 (GRCm39)	N19S	probably benign	Het
Or8g22	G	T	9: 38,958,379 (GRCm39)	C156*	probably null	Het
Oscp1	G	A	4: 125,976,783 (GRCm39)		probably null	Het
Pcdhgb7	A	G	18: 37,886,086 (GRCm39)	T419A	probably damaging	Het
Pdzph1	T	C	17: 59,281,121 (GRCm39)	D387G	probably benign	Het
Phc1	A	G	6: 122,311,990 (GRCm39)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,599,061 (GRCm39)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,398,752 (GRCm39)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,206,738 (GRCm39)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,265,108 (GRCm39)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,799,722 (GRCm39)		probably null	Het
Rundc3b	T	C	5: 8,562,348 (GRCm39)	K340R	probably null	Het
Scn1a	T	A	2: 66,148,243 (GRCm39)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,080,412 (GRCm39)		probably null	Het
Skic2	A	G	17: 35,064,183 (GRCm39)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,041,979 (GRCm39)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,881,047 (GRCm39)	I2158S	probably benign	Het
Strip1	A	T	3: 107,534,111 (GRCm39)	F174L	probably benign	Het
Sucnr1	A	T	3: 59,993,699 (GRCm39)	I76L	probably benign	Het
Syt17	C	T	7: 118,007,242 (GRCm39)	V412I	probably benign	Het
Tie1	T	A	4: 118,346,850 (GRCm39)	H18L	probably benign	Het
Tpp1	T	G	7: 105,398,129 (GRCm39)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,148,852 (GRCm39)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,499,742 (GRCm39)	N260S	probably benign	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Vps52	A	T	17: 34,178,293 (GRCm39)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,441,752 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,184,387 (GRCm39)	N139S	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
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
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'- CTTCCATCCGAGACTCCAAG -3'
(R):5'- AAGTCACAATGTCAGGGGTG -3'

Sequencing Primer
(F):5'- GGAGCCCAGAACAGATAATACCTG -3'
(R):5'- TCACAATGTCAGGGGTGAAAAATATG -3'

Posted On

2019-05-13