Mutagenetix > Incidental Mutation

Incidental Mutation 'R5386:Chit1'

425168

Institutional Source

Beutler Lab

Gene Symbol

Chit1

Ensembl Gene

ENSMUSG00000026450

Gene Name

chitinase 1 (chitotriosidase)

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R5386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134111242-134151540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 134149454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 332 (F332V)

Ref Sequence

ENSEMBL: ENSMUSP00000124331 (fasta)

Gene Model

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

AlphaFold

Q9D7Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000086475
AA Change: F332V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083666
Gene: ENSMUSG00000026450
AA Change: F332V

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 damaging
Transcript: ENSMUST00000159963
AA Change: F332V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123979
Gene: ENSMUSG00000026450
AA Change: F332V

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 damaging
Transcript: ENSMUST00000160060
AA Change: F332V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124331
Gene: ENSMUSG00000026450
AA Change: F332V

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	G	8: 86,517,489 (GRCm38)	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,828,142 (GRCm38)	G33R	probably benign	Het
Agbl3	G	T	6: 34,799,196 (GRCm38)	W207C	probably damaging	Het
Ajuba	T	C	14: 54,570,398 (GRCm38)	Y459C	probably damaging	Het
Ak2	T	C	4: 129,008,172 (GRCm38)	S213P	probably benign	Het
Alk	T	A	17: 71,875,012 (GRCm38)	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,438,365 (GRCm38)	S416G	probably damaging	Het
Ank2	C	T	3: 126,981,933 (GRCm38)	V854M	probably benign	Het
Ankrd61	G	T	5: 143,891,664 (GRCm38)	N122K	possibly damaging	Het
Armc9	T	A	1: 86,198,289 (GRCm38)	L34Q	probably null	Het
Aspg	T	A	12: 112,123,032 (GRCm38)	V418E	probably benign	Het
Baz1b	C	T	5: 135,238,059 (GRCm38)	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,325,592 (GRCm38)	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,004,358 (GRCm38)	D225E	probably damaging	Het
Capn9	A	G	8: 124,605,540 (GRCm38)	T417A	possibly damaging	Het
Card14	C	T	11: 119,317,289 (GRCm38)	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,730,041 (GRCm38)	N1271S	probably benign	Het
Ccpg1	G	A	9: 73,013,044 (GRCm38)	S647N	probably benign	Het
Cdv3	T	C	9: 103,355,230 (GRCm38)	K133R	possibly damaging	Het
Cep128	A	C	12: 90,999,571 (GRCm38)	S1087R	probably benign	Het
Cep70	T	A	9: 99,281,075 (GRCm38)	L325Q	probably damaging	Het
Chodl	C	A	16: 78,946,697 (GRCm38)	T219K	probably damaging	Het
Cntn4	T	C	6: 106,181,804 (GRCm38)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,890,207 (GRCm38)	M87I	possibly damaging	Het
Cplane1	G	A	15: 8,194,413 (GRCm38)	G887R	probably damaging	Het
Cyp3a59	A	G	5: 146,085,768 (GRCm38)	Y28C	probably benign	Het
Dchs1	A	C	7: 105,758,029 (GRCm38)	V2119G	probably damaging	Het
Dedd	T	C	1: 171,338,383 (GRCm38)	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,378,757 (GRCm38)	S2715P	probably benign	Het
Dnah9	T	C	11: 66,029,356 (GRCm38)	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,121 (GRCm38)	I337V	probably benign	Het
Duox2	A	G	2: 122,295,136 (GRCm38)	V330A	probably benign	Het
Dusp11	T	C	6: 85,947,605 (GRCm38)	*322W	probably null	Het
Dusp8	T	A	7: 142,089,993 (GRCm38)	Q61L	possibly damaging	Het
Ears2	G	C	7: 122,044,377 (GRCm38)	T426S	probably benign	Het
Elmo1	T	C	13: 20,600,210 (GRCm38)	Y646H	probably benign	Het
Eps15	T	A	4: 109,321,225 (GRCm38)	I220K	possibly damaging	Het
Faap100	T	A	11: 120,377,632 (GRCm38)	E105V	possibly damaging	Het
Fam171a2	C	A	11: 102,437,867 (GRCm38)	V689L	possibly damaging	Het
Fam91a1	G	A	15: 58,448,394 (GRCm38)	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076 (GRCm38)	Q234*	probably null	Het
Garre1	A	G	7: 34,242,388 (GRCm38)	F120L	probably damaging	Het
Gid4	T	A	11: 60,432,442 (GRCm38)		probably null	Het
Gm7361	A	C	5: 26,258,905 (GRCm38)	T53P	probably benign	Het
Golgb1	T	A	16: 36,912,315 (GRCm38)	C641*	probably null	Het
Gon4l	T	A	3: 88,858,496 (GRCm38)	M409K	probably benign	Het
Gpatch8	A	T	11: 102,508,227 (GRCm38)		probably null	Het
Gpr156	T	A	16: 37,948,309 (GRCm38)	V64E	possibly damaging	Het
Grid2	T	A	6: 63,931,105 (GRCm38)	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,215,116 (GRCm38)	A750V	probably damaging	Het
Hdac5	T	C	11: 102,202,141 (GRCm38)	E590G	possibly damaging	Het
Herc3	T	A	6: 58,874,278 (GRCm38)	M504K	probably damaging	Het
Hif1a	A	G	12: 73,944,093 (GRCm38)	E713G	probably benign	Het
Hmx3	A	G	7: 131,544,304 (GRCm38)	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,682,819 (GRCm38)	E143*	probably null	Het
Ifitm3	T	C	7: 141,010,641 (GRCm38)	N2S	probably benign	Het
Il17f	T	C	1: 20,777,957 (GRCm38)	Q99R	probably benign	Het
Itga6	T	A	2: 71,841,150 (GRCm38)	S341R	probably damaging	Het
Itgam	A	G	7: 128,107,980 (GRCm38)	N661S	probably benign	Het
Jag1	A	T	2: 137,095,544 (GRCm38)	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 52,725,995 (GRCm38)	N103K	probably benign	Het
Kdm6b	T	C	11: 69,400,810 (GRCm38)		probably benign	Het
Keg1	A	C	19: 12,714,538 (GRCm38)	N63T	probably damaging	Het
Klf12	T	A	14: 99,900,159 (GRCm38)	H317L	probably damaging	Het
Lrp1	A	T	10: 127,592,114 (GRCm38)	V530E	probably damaging	Het
Mrgpra6	A	G	7: 47,188,881 (GRCm38)	C190R	probably damaging	Het
Myo1a	G	T	10: 127,705,897 (GRCm38)	E102*	probably null	Het
Napa	A	T	7: 16,116,472 (GRCm38)	E265D	probably benign	Het
Ncam1	A	C	9: 49,564,874 (GRCm38)	V305G	probably damaging	Het
Nek8	T	C	11: 78,170,437 (GRCm38)		probably null	Het
Or10ag53	C	T	2: 87,252,483 (GRCm38)	P182L	probably benign	Het
Or11g24	T	A	14: 50,425,389 (GRCm38)	V290E	possibly damaging	Het
Or4a70	G	T	2: 89,494,137 (GRCm38)	Y58*	probably null	Het
Or4f52	T	C	2: 111,231,194 (GRCm38)	T200A	probably benign	Het
Or52a20	T	C	7: 103,717,355 (GRCm38)	F254L	probably benign	Het
Or5ak4	T	C	2: 85,331,635 (GRCm38)	T88A	probably benign	Het
Or5h23	T	A	16: 59,085,890 (GRCm38)	M198L	probably benign	Het
Or8c11	A	T	9: 38,377,985 (GRCm38)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,839,830 (GRCm38)	Y132C	possibly damaging	Het
Pabpc4	A	G	4: 123,294,997 (GRCm38)	Q417R	probably benign	Het
Panx3	A	T	9: 37,669,024 (GRCm38)	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,525,489 (GRCm38)	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,358,692 (GRCm38)	W477*	probably null	Het
Pi4k2a	G	A	19: 42,090,515 (GRCm38)	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075 (GRCm38)	Q372L	probably benign	Het
Plce1	C	A	19: 38,760,091 (GRCm38)	N1755K	probably damaging	Het
Pld4	G	T	12: 112,763,988 (GRCm38)	E102*	probably null	Het
Pnlip	A	G	19: 58,679,607 (GRCm38)	N345S	probably benign	Het
Ppm1e	A	T	11: 87,358,551 (GRCm38)	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,639,278 (GRCm38)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,495,799 (GRCm38)	D1038G	probably damaging	Het
Prss51	T	A	14: 64,097,094 (GRCm38)	V108E	probably damaging	Het
Prxl2b	T	A	4: 154,899,005 (GRCm38)	M1L	probably benign	Het
Ptch1	A	G	13: 63,545,043 (GRCm38)	Y181H	probably damaging	Het
Reln	A	G	5: 22,039,529 (GRCm38)	V817A	probably benign	Het
Rictor	C	A	15: 6,789,504 (GRCm38)	Q1403K	probably benign	Het
Rims1	T	A	1: 22,412,245 (GRCm38)	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,039 (GRCm38)	V618A	probably benign	Het
Ryr1	A	T	7: 29,117,416 (GRCm38)	I65N	probably damaging	Het
S1pr2	T	C	9: 20,967,594 (GRCm38)	T313A	probably benign	Het
Serpine2	A	T	1: 79,821,287 (GRCm38)	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384 (GRCm38)		probably benign	Het
Sgip1	T	C	4: 102,915,059 (GRCm38)	V215A	probably benign	Het
Sgsm3	T	C	15: 81,007,999 (GRCm38)	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469 (GRCm38)	C894*	probably null	Het
Slc14a2	T	A	18: 78,185,840 (GRCm38)	D306V	possibly damaging	Het
Slc28a2b	C	A	2: 122,522,778 (GRCm38)	L480I	probably benign	Het
Slc4a10	A	T	2: 62,290,058 (GRCm38)	E843V	probably damaging	Het
Smyd4	T	A	11: 75,390,156 (GRCm38)	C152S	probably damaging	Het
Snx10	T	C	6: 51,575,972 (GRCm38)	Y32H	probably damaging	Het
Sorl1	T	C	9: 42,057,284 (GRCm38)	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,719,052 (GRCm38)	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,187,301 (GRCm38)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,700,630 (GRCm38)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403 (GRCm38)	D16E	probably benign	Het
Tecpr2	T	C	12: 110,915,453 (GRCm38)	V152A	probably damaging	Het
Tedc1	T	C	12: 113,156,682 (GRCm38)	V47A	probably benign	Het
Tep1	A	T	14: 50,868,317 (GRCm38)	L82Q	probably damaging	Het
Tgm4	A	G	9: 123,056,494 (GRCm38)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,141,844 (GRCm38)	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844 (GRCm38)	G32D	possibly damaging	Het
Tmco2	A	G	4: 121,105,984 (GRCm38)	L106P	probably damaging	Het
Tmem131	A	T	1: 36,872,558 (GRCm38)	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,669,528 (GRCm38)	I444F	possibly damaging	Het
Trank1	T	C	9: 111,362,402 (GRCm38)	V493A	probably benign	Het
Trim80	A	T	11: 115,448,017 (GRCm38)	T558S	probably benign	Het
Trmt6	C	A	2: 132,808,783 (GRCm38)	A302S	probably benign	Het
Ttc17	A	T	2: 94,303,640 (GRCm38)	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,236,293 (GRCm38)	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 104,149,217 (GRCm38)	I358L	probably benign	Het
Ulk3	T	A	9: 57,590,740 (GRCm38)	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,528 (GRCm38)		probably null	Het
Vwa3a	A	G	7: 120,790,142 (GRCm38)	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,064,176 (GRCm38)	H538N	possibly damaging	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
R5975:Chit1	UTSW	1	134,146,626 (GRCm38)	missense	probably damaging	1.00
R6134:Chit1	UTSW	1	134,144,060 (GRCm38)	missense	possibly damaging	0.94
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'- CTCTTGGCATGAGGGGACA -3'
(R):5'- CACCGAGTCTTTATCAACAGATG -3'

Sequencing Primer
(F):5'- CGTAACTGCAAGGTGGTCATACC -3'
(R):5'- GATAAATGTTCAGGATGCTGTCAC -3'

Posted On

2016-08-04