Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Chil3'

723919

Institutional Source

Beutler Lab

Gene Symbol

Chil3

Ensembl Gene

ENSMUSG00000040809

Gene Name

chitinase-like 3

Synonyms

Ym1, Chi3l3

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R9607 (G1)

Quality Score

172.009

Status

Not validated

Chromosome

Chromosomal Location

106054870-106074852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106067685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 160 (K160R)

Ref Sequence

ENSEMBL: ENSMUSP00000053923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063062]

AlphaFold

O35744

PDB Structure

THE CRYSTAL STRUCTURE OF NOVEL MAMMALIAN LECTIN YM1 SUGGESTS A SACCHARIDE BINDING SITE [X-RAY DIFFRACTION]
The Crystal Structure of Ym1 at 1.31 A Resolution [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000063062
AA Change: K160R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053923
Gene: ENSMUSG00000040809
AA Change: K160R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Glyco_18	22	365	5.17e-134	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is thought to function as a lectin and may be involved in inflammation and allergy. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	probably benign	Het

Other mutations in Chil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Chil3	APN	3	106,056,017 (GRCm39)	missense	probably damaging	1.00
IGL01552:Chil3	APN	3	106,056,164 (GRCm39)	missense	probably damaging	0.98
IGL02538:Chil3	APN	3	106,071,445 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Chil3	UTSW	3	106,055,975 (GRCm39)	missense	probably damaging	1.00
R0145:Chil3	UTSW	3	106,067,794 (GRCm39)	missense	probably damaging	1.00
R0269:Chil3	UTSW	3	106,063,072 (GRCm39)	missense	probably benign	0.00
R0310:Chil3	UTSW	3	106,067,839 (GRCm39)	missense	possibly damaging	0.75
R0453:Chil3	UTSW	3	106,056,221 (GRCm39)	missense	probably benign	0.26
R0541:Chil3	UTSW	3	106,068,548 (GRCm39)	critical splice acceptor site	probably null
R0617:Chil3	UTSW	3	106,063,072 (GRCm39)	missense	probably benign	0.00
R0831:Chil3	UTSW	3	106,057,063 (GRCm39)	missense	probably benign	0.19
R1699:Chil3	UTSW	3	106,067,682 (GRCm39)	critical splice donor site	probably null
R1851:Chil3	UTSW	3	106,056,117 (GRCm39)	critical splice donor site	probably null
R1852:Chil3	UTSW	3	106,056,117 (GRCm39)	critical splice donor site	probably null
R2105:Chil3	UTSW	3	106,067,794 (GRCm39)	missense	possibly damaging	0.73
R2202:Chil3	UTSW	3	106,071,562 (GRCm39)	missense	probably benign	0.11
R2204:Chil3	UTSW	3	106,071,562 (GRCm39)	missense	probably benign	0.11
R2205:Chil3	UTSW	3	106,071,562 (GRCm39)	missense	probably benign	0.11
R4358:Chil3	UTSW	3	106,067,815 (GRCm39)	nonsense	probably null
R4492:Chil3	UTSW	3	106,063,017 (GRCm39)	missense	probably damaging	1.00
R4543:Chil3	UTSW	3	106,067,686 (GRCm39)	missense	probably benign
R4554:Chil3	UTSW	3	106,067,686 (GRCm39)	missense	probably benign
R4930:Chil3	UTSW	3	106,071,524 (GRCm39)	missense	possibly damaging	0.67
R5011:Chil3	UTSW	3	106,057,477 (GRCm39)	missense	possibly damaging	0.46
R5083:Chil3	UTSW	3	106,071,405 (GRCm39)	critical splice donor site	probably null
R5231:Chil3	UTSW	3	106,063,045 (GRCm39)	missense	probably damaging	0.96
R5423:Chil3	UTSW	3	106,055,978 (GRCm39)	missense	probably damaging	1.00
R6804:Chil3	UTSW	3	106,071,495 (GRCm39)	nonsense	probably null
R6859:Chil3	UTSW	3	106,067,730 (GRCm39)	missense	probably benign	0.14
R7218:Chil3	UTSW	3	106,067,853 (GRCm39)	splice site	probably null
R7391:Chil3	UTSW	3	106,071,496 (GRCm39)	missense	probably damaging	1.00
R7426:Chil3	UTSW	3	106,063,022 (GRCm39)	missense	probably benign	0.05
R7582:Chil3	UTSW	3	106,071,572 (GRCm39)	missense	probably damaging	1.00
R7620:Chil3	UTSW	3	106,067,751 (GRCm39)	missense	probably damaging	1.00
R7647:Chil3	UTSW	3	106,056,122 (GRCm39)	missense	possibly damaging	0.73
R7749:Chil3	UTSW	3	106,056,161 (GRCm39)	missense	probably benign	0.22
R7944:Chil3	UTSW	3	106,057,464 (GRCm39)	nonsense	probably null
R8099:Chil3	UTSW	3	106,055,984 (GRCm39)	missense	probably damaging	1.00
R8181:Chil3	UTSW	3	106,057,203 (GRCm39)	missense	probably damaging	0.98
R8859:Chil3	UTSW	3	106,071,440 (GRCm39)	missense	possibly damaging	0.86
R9011:Chil3	UTSW	3	106,057,031 (GRCm39)	nonsense	probably null
R9193:Chil3	UTSW	3	106,063,081 (GRCm39)	missense	possibly damaging	0.90
R9352:Chil3	UTSW	3	106,067,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGCATAGAAAGTAATGTCTCAC -3'
(R):5'- GTTTTGTGCCCAAGGTGTCC -3'

Sequencing Primer
(F):5'- GTAATGTCTCACATGTTTGTTGAAC -3'
(R):5'- CCAAGGTGTCCATGTCATAGAAGTC -3'

Posted On

2022-09-12