Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Chit1'

487259

Institutional Source

Beutler Lab

Gene Symbol

Chit1

Ensembl Gene

ENSMUSG00000026450

Gene Name

chitinase 1

Synonyms

2300002L19Rik

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

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

Stock #

R6134 (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 134071798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 103 (T103A)

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: T103A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: T103A

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: T103A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: T103A

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

possibly damaging
Transcript: ENSMUST00000160060
AA Change: T103A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: T103A

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

94% (51/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,767,619 (GRCm39)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aktip	T	A	8: 91,856,388 (GRCm39)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,530,977 (GRCm39)	H78N	probably damaging	Het
Aoah	C	T	13: 21,095,293 (GRCm39)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,629,152 (GRCm39)	W79R	probably damaging	Het
Brd2	A	T	17: 34,332,669 (GRCm39)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,577,037 (GRCm39)	P120L	probably damaging	Het
Cdh16	A	T	8: 105,342,697 (GRCm39)	M17K	probably benign	Het
Cdhr17	A	T	5: 17,029,683 (GRCm39)	D473V	probably damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Coch	T	A	12: 51,649,536 (GRCm39)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm39)	S1181R	unknown	Het
Col6a2	T	C	10: 76,442,978 (GRCm39)	D506G	probably damaging	Het
Crx	A	T	7: 15,602,032 (GRCm39)	Y215*	probably null	Het
Fasn	A	T	11: 120,713,012 (GRCm39)	S58T	probably benign	Het
Fhip1a	T	C	3: 85,580,651 (GRCm39)	E518G	possibly damaging	Het
Garem1	A	T	18: 21,262,881 (GRCm39)	D644E	probably benign	Het
H2-Q2	A	C	17: 35,562,217 (GRCm39)	T155P	probably damaging	Het
Insr	A	T	8: 3,242,572 (GRCm39)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lnpep	A	G	17: 17,773,454 (GRCm39)	M639T	probably benign	Het
Lypd11	G	A	7: 24,425,481 (GRCm39)	A3V	probably damaging	Het
Map3k20	C	T	2: 72,240,503 (GRCm39)	S333F	probably damaging	Het
Miga2	A	G	2: 30,261,229 (GRCm39)	S175G	probably benign	Het
Muc3a	A	T	5: 137,244,579 (GRCm39)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,244,595 (GRCm39)	V701A	probably damaging	Het
Nid2	T	C	14: 19,828,851 (GRCm39)	V565A	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Numbl	G	C	7: 26,980,739 (GRCm39)	A574P	probably damaging	Het
Oas3	A	G	5: 120,907,113 (GRCm39)	V508A	unknown	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,647,461 (GRCm39)	S197T	probably benign	Het
Pck2	T	A	14: 55,781,419 (GRCm39)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,740 (GRCm39)	V91A	possibly damaging	Het
Phtf1	A	T	3: 103,911,721 (GRCm39)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,565,837 (GRCm39)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,141,190 (GRCm39)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,374,745 (GRCm39)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,107,194 (GRCm39)	L64P	probably damaging	Het
Rnf213	A	T	11: 119,302,296 (GRCm39)	I407F	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scin	G	A	12: 40,110,578 (GRCm39)	P690L	probably damaging	Het
Septin9	T	C	11: 117,242,987 (GRCm39)	L58P	probably damaging	Het
Slc1a7	A	G	4: 107,869,633 (GRCm39)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,681,140 (GRCm39)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,890,986 (GRCm39)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,135,143 (GRCm39)	I79V	probably benign	Het
Ttll6	C	T	11: 96,030,568 (GRCm39)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,038,444 (GRCm39)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,449,323 (GRCm39)	F664L	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
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'- GATGTCACCCACAAAGTCTTTC -3'
(R):5'- GCCATTGTACCCTGTTGAGG -3'

Sequencing Primer
(F):5'- CCAGATCTGCAGCTGTCTG -3'
(R):5'- TATTTCCCTGAGGACCAC -3'

Posted On

2017-10-10