Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Chi3l1'

684448

Institutional Source

Beutler Lab

Gene Symbol

Chi3l1

Ensembl Gene

ENSMUSG00000064246

Gene Name

chitinase 3 like 1

Synonyms

Brp39, Chil1, Gp39

MMRRC Submission

068823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134109894-134117769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134115662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 223 (Q223H)

Ref Sequence

ENSEMBL: ENSMUSP00000080717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082060] [ENSMUST00000132873] [ENSMUST00000133701] [ENSMUST00000153856] [ENSMUST00000156873]

AlphaFold

Q61362

Predicted Effect

probably benign
Transcript: ENSMUST00000082060
AA Change: Q223H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: Q223H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Glyco_18	30	366	1.2e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132873

SMART Domains

Protein: ENSMUSP00000118289
Gene: ENSMUSG00000064246

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_18	2	110	4.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133701

SMART Domains

Protein: ENSMUSP00000121471
Gene: ENSMUSG00000064246

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_18	2	106	2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153856
AA Change: Q215H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: Q215H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Glyco_18	22	358	1.2e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156873
AA Change: Q213H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: Q213H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Glyco_18	20	356	1.2e-143	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show impaired OVA-induced Th2 responses with reduced splenocyte proliferation, cytokine production and IgE levels, impaired dendritic cell recruitment, higher CD4 T cell, macrophage and eosinophil apoptosis, and reduced CD4 T cell and alternatively activated macrophage numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,328,817 (GRCm39)	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282 (GRCm38)	D4E	probably benign	Het
Atp5if1	T	C	4: 132,260,685 (GRCm39)	D34G	probably benign	Het
Bcr	T	C	10: 74,967,404 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc141	A	T	2: 76,844,739 (GRCm39)	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589 (GRCm39)	D1375G	probably damaging	Het
Clcn2	A	T	16: 20,531,080 (GRCm39)	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,381 (GRCm39)	D464V	probably benign	Het
Crygb	T	C	1: 65,121,300 (GRCm39)	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,624,815 (GRCm39)	K438E	unknown	Het
Cyp46a1	A	T	12: 108,324,366 (GRCm39)	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,667,582 (GRCm39)		probably benign	Het
Dnase2b	G	T	3: 146,292,717 (GRCm39)	P152Q	probably damaging	Het
Duox1	A	T	2: 122,175,186 (GRCm39)	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam168b	A	G	1: 34,858,862 (GRCm39)	F102L	probably benign	Het
Fam3b	T	A	16: 97,277,594 (GRCm39)	D128V	probably damaging	Het
Galnt11	T	G	5: 25,469,983 (GRCm39)	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,316,730 (GRCm39)	R460S	probably benign	Het
Hdhd2	A	C	18: 77,058,366 (GRCm39)	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,415,995 (GRCm39)	M189T	probably damaging	Het
Ift70a1	A	T	2: 75,810,251 (GRCm39)	C611S	probably benign	Het
Ino80	A	G	2: 119,210,059 (GRCm39)	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,274,882 (GRCm39)	T467A	probably benign	Het
Kcnh2	A	G	5: 24,536,868 (GRCm39)	S239P	probably benign	Het
Lct	T	A	1: 128,228,299 (GRCm39)	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,787,227 (GRCm39)	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,921,490 (GRCm39)	D26E	probably benign	Het
Myh1	A	T	11: 67,096,607 (GRCm39)	M333L	probably benign	Het
Neurl4	T	C	11: 69,798,958 (GRCm39)	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,295,304 (GRCm39)	V80D	probably damaging	Het
Nop9	T	C	14: 55,983,438 (GRCm39)	S70P	possibly damaging	Het
Or2t46	A	G	11: 58,471,738 (GRCm39)	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,582,231 (GRCm39)	D446Y	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pdgfa	G	T	5: 138,971,977 (GRCm39)	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,122,307 (GRCm39)	L1133F	probably damaging	Het
Pole	A	T	5: 110,471,488 (GRCm39)	N1411Y	possibly damaging	Het
Primpol	A	G	8: 47,034,597 (GRCm39)		probably benign	Het
Psmc5	T	G	11: 106,152,787 (GRCm39)	V203G	probably damaging	Het
Ptgdr	C	T	14: 45,096,181 (GRCm39)	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,641,220 (GRCm39)	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170 (GRCm38)	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,580,907 (GRCm39)	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,296,197 (GRCm39)	T857A	probably damaging	Het
Rnf24	A	G	2: 131,155,197 (GRCm39)	F10S	possibly damaging	Het
Rreb1	C	A	13: 38,114,352 (GRCm39)	S570R	probably benign	Het
Rttn	A	G	18: 88,995,832 (GRCm39)	N205S	probably benign	Het
Rusc1	T	C	3: 88,999,365 (GRCm39)	E139G	probably benign	Het
Scn2a	A	G	2: 65,594,242 (GRCm39)	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 106,974,907 (GRCm39)	M209L	probably damaging	Het
Shank3	A	G	15: 89,432,888 (GRCm39)	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,592,514 (GRCm39)	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,313,901 (GRCm39)	W548*	probably null	Het
Srfbp1	T	A	18: 52,609,392 (GRCm39)	L59*	probably null	Het
Ss18	A	T	18: 14,803,380 (GRCm39)	S73T	probably damaging	Het
Syne1	T	C	10: 5,135,508 (GRCm39)	K189R	probably benign	Het
Szt2	G	T	4: 118,239,985 (GRCm39)		probably benign	Het
Tbx1	T	A	16: 18,402,937 (GRCm39)	H183L	probably damaging	Het
Thop1	A	G	10: 80,915,972 (GRCm39)	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,849 (GRCm39)	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559 (GRCm39)	Y513H	probably damaging	Het
Top1	A	G	2: 160,562,921 (GRCm39)	D709G	probably damaging	Het
Tprg1l	A	C	4: 154,242,890 (GRCm39)	S247A	probably damaging	Het
Trim46	A	G	3: 89,143,692 (GRCm39)	S602P	probably damaging	Het
Ttc7b	T	C	12: 100,466,433 (GRCm39)	K60E	probably benign	Het
Ttn	G	A	2: 76,714,815 (GRCm39)	S8053F	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp24	T	A	4: 106,234,762 (GRCm39)	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Xpc	G	A	6: 91,477,956 (GRCm39)	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,260,895 (GRCm39)	M129I	probably benign	Het
Zpld2	G	A	4: 133,929,978 (GRCm39)	T109I	probably damaging	Het

Other mutations in Chi3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Chi3l1	APN	1	134,115,711 (GRCm39)	missense	possibly damaging	0.89
IGL01305:Chi3l1	APN	1	134,110,554 (GRCm39)	splice site	probably benign
IGL02051:Chi3l1	APN	1	134,111,887 (GRCm39)	missense	probably damaging	1.00
IGL02724:Chi3l1	APN	1	134,116,981 (GRCm39)	missense	probably damaging	1.00
IGL02754:Chi3l1	APN	1	134,111,339 (GRCm39)	missense	probably damaging	1.00
R0071:Chi3l1	UTSW	1	134,113,017 (GRCm39)	missense	probably benign	0.08
R0071:Chi3l1	UTSW	1	134,113,017 (GRCm39)	missense	probably benign	0.08
R0662:Chi3l1	UTSW	1	134,116,311 (GRCm39)	missense	probably damaging	1.00
R1263:Chi3l1	UTSW	1	134,116,980 (GRCm39)	missense	probably benign	0.02
R1728:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1729:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1730:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1739:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1762:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1783:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1784:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R1785:Chi3l1	UTSW	1	134,116,267 (GRCm39)	missense	probably damaging	1.00
R4992:Chi3l1	UTSW	1	134,116,364 (GRCm39)	missense	probably benign	0.03
R5860:Chi3l1	UTSW	1	134,112,909 (GRCm39)	missense	probably benign	0.00
R6019:Chi3l1	UTSW	1	134,117,310 (GRCm39)	missense	probably benign	0.00
R6320:Chi3l1	UTSW	1	134,109,996 (GRCm39)	start codon destroyed	probably null	0.07
R7748:Chi3l1	UTSW	1	134,116,966 (GRCm39)	missense	probably benign	0.00
R8419:Chi3l1	UTSW	1	134,117,280 (GRCm39)	missense	probably damaging	1.00
R9051:Chi3l1	UTSW	1	134,111,919 (GRCm39)	critical splice donor site	probably null
R9238:Chi3l1	UTSW	1	134,115,685 (GRCm39)	missense	probably damaging	1.00
R9509:Chi3l1	UTSW	1	134,116,413 (GRCm39)	missense	probably damaging	1.00
RF012:Chi3l1	UTSW	1	134,112,909 (GRCm39)	missense	probably benign
X0025:Chi3l1	UTSW	1	134,111,370 (GRCm39)	missense	possibly damaging	0.62
Z1088:Chi3l1	UTSW	1	134,117,238 (GRCm39)	missense	probably benign	0.00
Z1176:Chi3l1	UTSW	1	134,116,968 (GRCm39)	missense	probably damaging	0.96
Z1176:Chi3l1	UTSW	1	134,110,517 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCTCTGAAGCTACTGGGC -3'
(R):5'- TACTTGGTCTACACTGTCAGGC -3'

Sequencing Primer
(F):5'- AGCTACTGGGCTTCTGGTGC -3'
(R):5'- AGGAACCTACCACATTGC -3'

Posted On

2021-10-11