Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Chit1'

661186

Institutional Source

Beutler Lab

Gene Symbol

Chit1

Ensembl Gene

ENSMUSG00000026450

Gene Name

chitinase 1

Synonyms

2300002L19Rik

MMRRC Submission

068527-MU

Accession Numbers

Essential gene?

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

Stock #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134038980-134079278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134079005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 360 (V360A)

Ref Sequence

ENSEMBL: ENSMUSP00000124331 (fasta)

Gene Model

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

AlphaFold

Q9D7Q1

Predicted Effect

silent
Transcript: ENSMUST00000086475

SMART Domains

Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450

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: ENSMUST00000159963

SMART Domains

Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450

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

unknown
Transcript: ENSMUST00000160060
AA Change: V360A

SMART Domains

Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: V360A

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: 99.9%
10x: 99.3%
20x: 97.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Aadat	A	T	8: 60,959,179 (GRCm39)		probably benign	Het
Amigo3	A	G	9: 107,931,375 (GRCm39)	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,323,146 (GRCm39)	M214K	probably damaging	Het
Atp11b	A	T	3: 35,874,066 (GRCm39)	D685V	probably benign	Het
Aunip	T	A	4: 134,250,460 (GRCm39)	M135K	probably benign	Het
Brd10	T	C	19: 29,731,564 (GRCm39)	T483A	probably benign	Het
Card9	T	C	2: 26,247,950 (GRCm39)	T134A	probably benign	Het
Cd46	G	A	1: 194,764,949 (GRCm39)	T216I	probably benign	Het
Crcp	A	G	5: 130,071,077 (GRCm39)	R59G	probably benign	Het
Csmd1	T	A	8: 15,976,598 (GRCm39)	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,743,986 (GRCm39)	M449L	probably benign	Het
Dpp7	T	C	2: 25,246,133 (GRCm39)	D40G	probably benign	Het
Eif4g3	T	A	4: 137,853,823 (GRCm39)	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,278,524 (GRCm39)	I454V	probably benign	Het
Gbp11	T	A	5: 105,491,675 (GRCm39)	I41F	probably damaging	Het
Gkap1	G	A	13: 58,391,662 (GRCm39)	T231I	probably damaging	Het
Heatr5b	A	G	17: 79,069,632 (GRCm39)	L1705P	probably damaging	Het
Herc3	T	A	6: 58,850,786 (GRCm39)	F467I	probably damaging	Het
Ifih1	T	C	2: 62,435,993 (GRCm39)	E699G	possibly damaging	Het
Ints5	T	A	19: 8,873,370 (GRCm39)	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,276,016 (GRCm39)	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,551,230 (GRCm39)	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,518,890 (GRCm39)	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793 (GRCm39)	D5384G	probably damaging	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,784,063 (GRCm39)	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,512,988 (GRCm39)	S8P	probably benign	Het
Nisch	A	G	14: 30,895,093 (GRCm39)	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,579 (GRCm39)	N404D	probably damaging	Het
Nwd1	C	G	8: 73,394,007 (GRCm39)	H423Q	probably damaging	Het
Or5a1	C	T	19: 12,097,921 (GRCm39)	V52M	probably benign	Het
Or6c66b	T	A	10: 129,376,596 (GRCm39)	N63K	probably damaging	Het
Or8j3c	T	A	2: 86,253,976 (GRCm39)	M15L	probably benign	Het
Pcdh9	T	C	14: 94,124,529 (GRCm39)	N547S	probably benign	Het
Pdha2	C	A	3: 140,917,124 (GRCm39)	R128L	probably damaging	Het
Pebp1	A	G	5: 117,421,336 (GRCm39)	Y181H	probably benign	Het
Peg3	T	G	7: 6,711,523 (GRCm39)	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,642,107 (GRCm39)	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,393,841 (GRCm39)	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,270,846 (GRCm39)	M647R	probably damaging	Het
Rp1	A	G	1: 4,419,007 (GRCm39)	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161 (GRCm39)	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,123,334 (GRCm39)	V433D	possibly damaging	Het
Spata31h1	A	T	10: 82,127,726 (GRCm39)	N1761K	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,686,559 (GRCm39)	K705N	probably damaging	Het
Thbs1	C	A	2: 117,943,719 (GRCm39)	N112K	probably benign	Het
Zfp658	T	C	7: 43,222,919 (GRCm39)	I398T	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCAACATTGCTTGAATCG -3'
(R):5'- AAGTCACAATGTCAGGGGTG -3'

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

Posted On

2021-03-08