Mutagenetix > Incidental Mutation

Incidental Mutation 'R2045:Chit1'

221758

Institutional Source

Beutler Lab

Gene Symbol

Chit1

Ensembl Gene

ENSMUSG00000026450

Gene Name

chitinase 1

Synonyms

2300002L19Rik

MMRRC Submission

040052-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R2045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134038980-134079278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134078882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 397 (I397M)

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: I397M

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: I397M

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: I397M

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: I397M

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,799 (GRCm39)	G303E	probably damaging	Het
Adamts1	A	T	16: 85,592,864 (GRCm39)	Y515N	probably damaging	Het
Ankef1	T	C	2: 136,396,658 (GRCm39)	V695A	probably benign	Het
Ankrd63	C	A	2: 118,533,834 (GRCm39)		probably benign	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Atf2	A	C	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Atp5pb	T	C	3: 105,851,190 (GRCm39)		probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	A	C	6: 118,369,588 (GRCm39)	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,633,098 (GRCm39)	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,121 (GRCm39)	S6P	possibly damaging	Het
Capn8	A	G	1: 182,440,951 (GRCm39)	T462A	probably benign	Het
Cd226	T	C	18: 89,225,486 (GRCm39)	S128P	probably benign	Het
Cd33	G	T	7: 43,179,316 (GRCm39)	H278N	probably benign	Het
Cdh1	T	C	8: 107,392,814 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,874,671 (GRCm39)		probably null	Het
Cic	C	A	7: 24,970,961 (GRCm39)	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,630,924 (GRCm39)	V312A	probably damaging	Het
Cngb1	T	A	8: 96,023,713 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,140,616 (GRCm39)	I430V	probably benign	Het
Dnah12	A	G	14: 26,503,485 (GRCm39)	E1613G	probably null	Het
Dock2	T	C	11: 34,244,106 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,160,171 (GRCm39)	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,218,646 (GRCm39)	K144*	probably null	Het
Erap1	T	C	13: 74,817,569 (GRCm39)	V137A	probably benign	Het
Far1	A	T	7: 113,138,478 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,223,730 (GRCm39)	C807S	probably damaging	Het
Fgfr1	A	G	8: 26,048,231 (GRCm39)	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,443,165 (GRCm39)	V2533D	probably damaging	Het
Hip1r	T	C	5: 124,138,794 (GRCm39)	M839T	probably benign	Het
Igfbp2	A	G	1: 72,891,310 (GRCm39)	S303G	probably benign	Het
Insyn2a	T	G	7: 134,520,159 (GRCm39)	K124Q	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb3	T	G	11: 104,514,239 (GRCm39)	S27A	probably benign	Het
Kif21b	G	A	1: 136,088,051 (GRCm39)	D1015N	probably damaging	Het
Krt7	A	T	15: 101,321,365 (GRCm39)		probably null	Het
Krtdap	T	A	7: 30,490,010 (GRCm39)	F80L	probably benign	Het
Lcp1	A	T	14: 75,437,841 (GRCm39)	T84S	probably benign	Het
Lipi	G	A	16: 75,347,087 (GRCm39)	T444I	probably damaging	Het
Lrguk	A	T	6: 34,048,003 (GRCm39)	E316V	probably damaging	Het
Lypd1	G	A	1: 125,838,272 (GRCm39)		probably benign	Het
Med12l	A	T	3: 59,169,731 (GRCm39)	K1632*	probably null	Het
Mrgpra9	A	T	7: 46,885,583 (GRCm39)	M28K	probably benign	Het
Mylk	A	G	16: 34,774,023 (GRCm39)	K1291E	probably benign	Het
Nek4	T	A	14: 30,675,880 (GRCm39)	W72R	probably damaging	Het
Nudt8	T	C	19: 4,051,899 (GRCm39)	V170A	probably damaging	Het
Oosp3	T	A	19: 11,676,733 (GRCm39)	Y31N	probably benign	Het
Padi2	A	T	4: 140,665,241 (GRCm39)	R449W	probably damaging	Het
Pcf11	G	T	7: 92,311,087 (GRCm39)	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,558,508 (GRCm39)	D633G	possibly damaging	Het
Phlpp2	T	A	8: 110,634,232 (GRCm39)	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,343,050 (GRCm39)	N176Y	probably damaging	Het
Pop5	T	G	5: 115,376,271 (GRCm39)	V33G	possibly damaging	Het
Prkag2	A	G	5: 25,152,580 (GRCm39)	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,781,337 (GRCm39)	D79E	possibly damaging	Het
Rab32	T	G	10: 10,426,577 (GRCm39)	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,402,009 (GRCm39)	K513E	possibly damaging	Het
Senp1	A	T	15: 97,957,825 (GRCm39)	F358I	possibly damaging	Het
Sft2d2	A	G	1: 165,012,647 (GRCm39)	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,400,613 (GRCm39)	R741H	probably damaging	Het
Smad4	A	T	18: 73,782,877 (GRCm39)	Y352*	probably null	Het
Tamm41	T	A	6: 114,993,056 (GRCm39)	Q232H	probably benign	Het
Tbx6	T	A	7: 126,382,055 (GRCm39)	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,045,313 (GRCm39)		probably benign	Het
Trp53bp1	C	A	2: 121,034,964 (GRCm39)	A108S	probably benign	Het
Tut7	T	C	13: 59,948,470 (GRCm39)	Y215C	probably damaging	Het
Unc13b	G	A	4: 43,091,266 (GRCm39)	V31M	probably damaging	Het
Usp24	T	C	4: 106,258,177 (GRCm39)	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,688,252 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,839,104 (GRCm39)	I2147L	probably benign	Het
Zbtb7a	C	A	10: 80,980,244 (GRCm39)	A146E	probably benign	Het
Zfp287	A	G	11: 62,618,395 (GRCm39)	L157P	probably 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
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
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'- TGTGGCACAGGTTGTCTTCC -3'
(R):5'- CCAGGTACAACATTTGCAAGAG -3'

Sequencing Primer
(F):5'- GTCTTCCAGACAGTGCCTG -3'
(R):5'- TTTGCAAGAGGCTCTAAACACCAG -3'

Posted On

2014-08-25