Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Chit1'

487259

Institutional Source

Beutler Lab

Gene Symbol

Chit1

Ensembl Gene

ENSMUSG00000026450

Gene Name

chitinase 1 (chitotriosidase)

Synonyms

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R6134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134111242-134151540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134144060 bp (GRCm38)

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: 58,876,793 (GRCm38)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Aktip	T	A	8: 91,129,760 (GRCm38)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,077,943 (GRCm38)	H78N	probably damaging	Het
Aoah	C	T	13: 20,911,123 (GRCm38)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,701,430 (GRCm38)	W79R	probably damaging	Het
Brd2	A	T	17: 34,113,695 (GRCm38)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,701,291 (GRCm38)	P120L	probably damaging	Het
Cdh16	A	T	8: 104,616,065 (GRCm38)	M17K	probably benign	Het
Clcn3	T	C	8: 60,934,573 (GRCm38)	Y214C	probably damaging	Het
Coch	T	A	12: 51,602,753 (GRCm38)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm38)	S1181R	unknown	Het
Col6a2	T	C	10: 76,607,144 (GRCm38)	D506G	probably damaging	Het
Crx	A	T	7: 15,868,107 (GRCm38)	Y215*	probably null	Het
Fam160a1	T	C	3: 85,673,344 (GRCm38)	E518G	possibly damaging	Het
Fasn	A	T	11: 120,822,186 (GRCm38)	S58T	probably benign	Het
Garem1	A	T	18: 21,129,824 (GRCm38)	D644E	probably benign	Het
Gm4763	G	A	7: 24,726,056 (GRCm38)	A3V	probably damaging	Het
H2-Q2	A	C	17: 35,343,241 (GRCm38)	T155P	probably damaging	Het
Insr	A	T	8: 3,192,572 (GRCm38)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,984,157 (GRCm38)	R447W	probably benign	Het
Lnpep	A	G	17: 17,553,192 (GRCm38)	M639T	probably benign	Het
Map3k20	C	T	2: 72,410,159 (GRCm38)	S333F	probably damaging	Het
Miga2	A	G	2: 30,371,217 (GRCm38)	S175G	probably benign	Het
Muc3a	A	T	5: 137,210,122 (GRCm38)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,174,371 (GRCm38)	V701A	probably damaging	Het
Nid2	T	C	14: 19,778,783 (GRCm38)	V565A	probably damaging	Het
Nova2	G	A	7: 18,957,869 (GRCm38)	A244T	unknown	Het
Numbl	G	C	7: 27,281,314 (GRCm38)	A574P	probably damaging	Het
Oas3	A	G	5: 120,769,048 (GRCm38)	V508A	unknown	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
Otx1	A	T	11: 21,999,406 (GRCm38)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,514,408 (GRCm38)	S197T	probably benign	Het
Pck2	T	A	14: 55,543,962 (GRCm38)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,739 (GRCm38)	V91A	possibly damaging	Het
Phtf1	A	T	3: 104,004,405 (GRCm38)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,588,855 (GRCm38)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,251,178 (GRCm38)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,226,626 (GRCm38)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,997,311 (GRCm38)		probably null	Het
Rgs22	A	G	15: 36,107,048 (GRCm38)	L64P	probably damaging	Het
Rnf213	A	T	11: 119,411,470 (GRCm38)	I407F	probably damaging	Het
Rp1l1	C	T	14: 64,030,096 (GRCm38)	P1044S	probably damaging	Het
RP24-388A6.3	A	T	5: 16,824,685 (GRCm38)	D473V	probably damaging	Het
Scin	G	A	12: 40,060,579 (GRCm38)	P690L	probably damaging	Het
Sept9	T	C	11: 117,352,161 (GRCm38)	L58P	probably damaging	Het
Slc1a7	A	G	4: 108,012,436 (GRCm38)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,476,142 (GRCm38)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,672,012 (GRCm38)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,244,317 (GRCm38)	I79V	probably benign	Het
Ttll6	C	T	11: 96,139,742 (GRCm38)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,061,485 (GRCm38)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,749,898 (GRCm38)	F664L	probably benign	Het

Other mutations in Chit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Chit1	APN	1	134,145,254 (GRCm38)	missense	probably damaging	1.00
IGL01344:Chit1	APN	1	134,151,314 (GRCm38)	missense	probably damaging	1.00
IGL01352:Chit1	APN	1	134,148,490 (GRCm38)	missense	probably damaging	1.00
IGL01620:Chit1	APN	1	134,150,519 (GRCm38)	missense	probably damaging	1.00
IGL01795:Chit1	APN	1	134,148,429 (GRCm38)	missense	probably damaging	1.00
IGL01924:Chit1	APN	1	134,149,410 (GRCm38)	missense	probably benign	0.05
IGL02000:Chit1	APN	1	134,146,675 (GRCm38)	missense	probably benign	0.01
IGL02891:Chit1	APN	1	134,145,310 (GRCm38)	missense	probably benign	0.38
Debt	UTSW	1	134,149,425 (GRCm38)	missense	probably null	1.00
R0790:Chit1	UTSW	1	134,138,752 (GRCm38)	missense	probably benign	0.00
R0838:Chit1	UTSW	1	134,143,337 (GRCm38)	nonsense	probably null
R1783:Chit1	UTSW	1	134,149,395 (GRCm38)	missense	probably benign	0.03
R1783:Chit1	UTSW	1	134,149,394 (GRCm38)	missense	possibly damaging	0.67
R1784:Chit1	UTSW	1	134,149,394 (GRCm38)	missense	possibly damaging	0.67
R1863:Chit1	UTSW	1	134,151,250 (GRCm38)	missense	probably damaging	0.96
R1940:Chit1	UTSW	1	134,145,418 (GRCm38)	critical splice donor site	probably null
R1950:Chit1	UTSW	1	134,151,230 (GRCm38)	missense	probably damaging	1.00
R2045:Chit1	UTSW	1	134,151,144 (GRCm38)	missense	probably benign	0.05
R2260:Chit1	UTSW	1	134,151,127 (GRCm38)	missense	probably benign
R4552:Chit1	UTSW	1	134,144,051 (GRCm38)	missense	probably benign	0.17
R5386:Chit1	UTSW	1	134,149,454 (GRCm38)	missense	probably damaging	1.00
R5975:Chit1	UTSW	1	134,146,626 (GRCm38)	missense	probably damaging	1.00
R6196:Chit1	UTSW	1	134,146,643 (GRCm38)	nonsense	probably null
R6482:Chit1	UTSW	1	134,143,242 (GRCm38)	missense	probably damaging	0.98
R6923:Chit1	UTSW	1	134,149,425 (GRCm38)	missense	probably null	1.00
R6952:Chit1	UTSW	1	134,143,284 (GRCm38)	missense	probably damaging	1.00
R7022:Chit1	UTSW	1	134,151,292 (GRCm38)	missense	probably benign	0.44
R7198:Chit1	UTSW	1	134,150,491 (GRCm38)	missense	possibly damaging	0.87
R8079:Chit1	UTSW	1	134,144,027 (GRCm38)	missense	possibly damaging	0.79
R8278:Chit1	UTSW	1	134,150,594 (GRCm38)	missense	probably benign	0.00
R8672:Chit1	UTSW	1	134,151,267 (GRCm38)	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