Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Chil3'

90606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chil3

Ensembl Gene

ENSMUSG00000040809

Gene Name

chitinase-like 3

Synonyms

Ym1, Chi3l3

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

106147554-106167564 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106148848 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 330 (G330V)

Ref Sequence

ENSEMBL: ENSMUSP00000053923 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000063062
AA Change: G330V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053923
Gene: ENSMUSG00000040809
AA Change: G330V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149836

SMART Domains

Protein: ENSMUSP00000121823
Gene: ENSMUSG00000040809

Domain	Start	End	E-Value	Type
Blast:Glyco_18	2	37	1e-10	BLAST
SCOP:d1goia2	2	44	2e-6	SMART
PDB:1VF8\|A	2	58	3e-28	PDB

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Chil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Chil3	APN	3	106148701	missense	probably damaging	1.00
IGL02538:Chil3	APN	3	106164129	missense	probably damaging	1.00
PIT4382001:Chil3	UTSW	3	106148659	missense	probably damaging	1.00
R0145:Chil3	UTSW	3	106160478	missense	probably damaging	1.00
R0269:Chil3	UTSW	3	106155756	missense	probably benign	0.00
R0310:Chil3	UTSW	3	106160523	missense	possibly damaging	0.75
R0453:Chil3	UTSW	3	106148905	missense	probably benign	0.26
R0541:Chil3	UTSW	3	106161232	critical splice acceptor site	probably null
R0617:Chil3	UTSW	3	106155756	missense	probably benign	0.00
R0831:Chil3	UTSW	3	106149747	missense	probably benign	0.19
R1699:Chil3	UTSW	3	106160366	critical splice donor site	probably null
R1851:Chil3	UTSW	3	106148801	critical splice donor site	probably null
R1852:Chil3	UTSW	3	106148801	critical splice donor site	probably null
R2105:Chil3	UTSW	3	106160478	missense	possibly damaging	0.73
R2202:Chil3	UTSW	3	106164246	missense	probably benign	0.11
R2204:Chil3	UTSW	3	106164246	missense	probably benign	0.11
R2205:Chil3	UTSW	3	106164246	missense	probably benign	0.11
R4358:Chil3	UTSW	3	106160499	nonsense	probably null
R4492:Chil3	UTSW	3	106155701	missense	probably damaging	1.00
R4543:Chil3	UTSW	3	106160370	missense	probably benign
R4554:Chil3	UTSW	3	106160370	missense	probably benign
R4930:Chil3	UTSW	3	106164208	missense	possibly damaging	0.67
R5011:Chil3	UTSW	3	106150161	missense	possibly damaging	0.46
R5083:Chil3	UTSW	3	106164089	critical splice donor site	probably null
R5231:Chil3	UTSW	3	106155729	missense	probably damaging	0.96
R5423:Chil3	UTSW	3	106148662	missense	probably damaging	1.00
R6804:Chil3	UTSW	3	106164179	nonsense	probably null
R6859:Chil3	UTSW	3	106160414	missense	probably benign	0.14
R7218:Chil3	UTSW	3	106160537	splice site	probably null
R7391:Chil3	UTSW	3	106164180	missense	probably damaging	1.00
R7426:Chil3	UTSW	3	106155706	missense	probably benign	0.05
R7582:Chil3	UTSW	3	106164256	missense	probably damaging	1.00
R7620:Chil3	UTSW	3	106160435	missense	probably damaging	1.00
R7647:Chil3	UTSW	3	106148806	missense	possibly damaging	0.73
R7749:Chil3	UTSW	3	106148845	missense	probably benign	0.22
R7944:Chil3	UTSW	3	106150148	nonsense	probably null
R8099:Chil3	UTSW	3	106148668	missense	probably damaging	1.00
R8181:Chil3	UTSW	3	106149887	missense	probably damaging	0.98

Posted On

2013-12-09