Mutagenetix > Incidental Mutation

Incidental Mutation 'R9509:Chi3l1'

717977

Institutional Source

Beutler Lab

Gene Symbol

Chi3l1

Ensembl Gene

ENSMUSG00000064246

Gene Name

chitinase 3 like 1

Synonyms

Brp39, Chil1, Gp39

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134109894-134117769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134116413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 307 (E307K)

Ref Sequence

ENSEMBL: ENSMUSP00000080717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038445] [ENSMUST00000082060] [ENSMUST00000132873] [ENSMUST00000133701] [ENSMUST00000153856] [ENSMUST00000156873] [ENSMUST00000191577]

AlphaFold

Q61362

Predicted Effect

probably benign
Transcript: ENSMUST00000038445

SMART Domains

Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451

Domain	Start	End	E-Value	Type
low complexity region	41	66	N/A	INTRINSIC
FN3	77	160	4.84e-9	SMART
IG	187	270	9.78e-7	SMART
FN3	273	355	1.1e-7	SMART
IGc2	400	467	1.38e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000082060
AA Change: E307K

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

SMART Domains

Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: E307K

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 damaging
Transcript: ENSMUST00000153856
AA Change: E299K

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

SMART Domains

Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: E299K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156873
AA Change: E297K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: E297K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191577

SMART Domains

Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451

Domain	Start	End	E-Value	Type
low complexity region	41	66	N/A	INTRINSIC
FN3	77	160	4.84e-9	SMART
IG	187	270	9.78e-7	SMART
FN3	273	355	1.1e-7	SMART
IGc2	400	467	1.38e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Acan	C	T	7: 78,740,768 (GRCm39)	P378L	probably damaging	Het
Akap6	A	G	12: 53,189,021 (GRCm39)	D2145G	probably damaging	Het
Akap9	A	T	5: 4,096,349 (GRCm39)	D2408V	probably benign	Het
Apol10a	C	A	15: 77,372,968 (GRCm39)	Y201*	probably null	Het
Arhgef4	T	C	1: 34,762,772 (GRCm39)	I676T	unknown	Het
Capn13	T	C	17: 73,644,446 (GRCm39)	H361R	probably benign	Het
Ccdc88a	G	A	11: 29,414,143 (GRCm39)	V894I	probably benign	Het
Chd4	T	A	6: 125,099,485 (GRCm39)	L1655Q	possibly damaging	Het
Dhfr	T	A	13: 92,504,739 (GRCm39)	I139N	probably damaging	Het
Dock8	A	G	19: 25,072,985 (GRCm39)	S422G	probably benign	Het
Dspp	C	A	5: 104,325,657 (GRCm39)	D673E	unknown	Het
Dst	G	T	1: 33,947,465 (GRCm39)	W38L	possibly damaging	Het
Dynlt1b	A	T	17: 6,702,415 (GRCm39)	E26D	probably benign	Het
Dysf	A	T	6: 84,187,779 (GRCm39)	Y2059F	probably damaging	Het
Efcab5	G	A	11: 76,994,977 (GRCm39)	S1198F	possibly damaging	Het
Erp44	T	C	4: 48,208,750 (GRCm39)	I237V	probably benign	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fat2	A	G	11: 55,200,713 (GRCm39)	V787A	possibly damaging	Het
Fbn2	C	G	18: 58,247,550 (GRCm39)	G448A	probably benign	Het
Fbxw21	A	G	9: 108,977,217 (GRCm39)	V164A	possibly damaging	Het
Gabpa	G	A	16: 84,649,395 (GRCm39)	V201I	possibly damaging	Het
Gm12253	G	A	11: 58,330,771 (GRCm39)	V177M	probably benign	Het
Il2rb	C	A	15: 78,374,416 (GRCm39)	W84L	probably damaging	Het
Kank4	T	A	4: 98,663,104 (GRCm39)	T695S	possibly damaging	Het
Klhl29	T	C	12: 5,190,629 (GRCm39)	Q122R	probably damaging	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Lifr	A	G	15: 7,188,955 (GRCm39)	Y112C	probably damaging	Het
Lins1	C	T	7: 66,358,119 (GRCm39)	Q85*	probably null	Het
Lpcat1	T	A	13: 73,642,951 (GRCm39)	V175E	probably damaging	Het
Mdm1	T	C	10: 117,982,730 (GRCm39)	S122P	probably damaging	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Mylk4	T	C	13: 32,904,543 (GRCm39)	N197S	probably benign	Het
Neurl4	T	A	11: 69,792,971 (GRCm39)	L83*	probably null	Het
Nlrc3	T	C	16: 3,782,680 (GRCm39)	D259G	probably damaging	Het
Nsf	A	T	11: 103,754,074 (GRCm39)	D487E	probably benign	Het
Or2n1e	A	G	17: 38,586,281 (GRCm39)	I206M	probably benign	Het
Or2y1	A	G	11: 49,385,476 (GRCm39)	I39V	probably benign	Het
Or5p50	T	A	7: 107,422,440 (GRCm39)	T79S	probably benign	Het
Palb2	T	A	7: 121,727,399 (GRCm39)	K157M	probably damaging	Het
Pbrm1	T	C	14: 30,806,914 (GRCm39)	S1114P	probably damaging	Het
Pdia6	T	A	12: 17,330,989 (GRCm39)	M364K	probably damaging	Het
Pf4	G	T	5: 90,921,048 (GRCm39)	G83W	probably damaging	Het
Pibf1	T	C	14: 99,338,721 (GRCm39)	M79T	probably benign	Het
Pip4p2	T	A	4: 14,892,485 (GRCm39)	C116*	probably null	Het
Polr3b	T	G	10: 84,467,650 (GRCm39)	Y77D	probably damaging	Het
Pomt2	T	A	12: 87,184,802 (GRCm39)	H208L	possibly damaging	Het
Pprc1	A	T	19: 46,051,838 (GRCm39)	K456M	unknown	Het
Rasgef1a	A	T	6: 118,061,391 (GRCm39)	K119*	probably null	Het
Rbbp6	T	A	7: 122,597,791 (GRCm39)	Y701N	unknown	Het
Relch	A	G	1: 105,614,704 (GRCm39)	E216G	probably damaging	Het
Reln	A	T	5: 22,549,198 (GRCm39)	V70E	possibly damaging	Het
Rgs17	T	C	10: 5,812,576 (GRCm39)	N41S	probably benign	Het
Rhbdf1	A	T	11: 32,165,055 (GRCm39)	I106N	possibly damaging	Het
Robo1	T	A	16: 72,759,167 (GRCm39)	N393K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scart2	T	A	7: 139,879,644 (GRCm39)	Y1093*	probably null	Het
Scnn1a	A	T	6: 125,319,604 (GRCm39)	D495V	probably damaging	Het
Serpinf2	G	A	11: 75,328,895 (GRCm39)	P45L	probably benign	Het
Setdb1	A	C	3: 95,261,900 (GRCm39)	I122S	possibly damaging	Het
Slc4a9	A	T	18: 36,668,443 (GRCm39)	M701L	probably damaging	Het
Spata31h1	A	T	10: 82,132,229 (GRCm39)	N260K	probably benign	Het
Supv3l1	T	C	10: 62,265,411 (GRCm39)	T710A	probably benign	Het
Syne1	A	T	10: 5,298,927 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,766,292 (GRCm39)	Y743*	probably null	Het
Tgm2	A	T	2: 157,969,210 (GRCm39)	Y388*	probably null	Het
Tor3a	A	G	1: 156,483,499 (GRCm39)	S308P	possibly damaging	Het
Trim12a	T	C	7: 103,953,551 (GRCm39)	K187E	probably benign	Het
Trpc1	C	T	9: 95,625,249 (GRCm39)		probably null	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ush2a	T	A	1: 188,648,440 (GRCm39)	Y4682N	probably damaging	Het
Vldlr	A	G	19: 27,221,687 (GRCm39)	N684S	probably benign	Het
Vmn2r72	T	A	7: 85,404,075 (GRCm39)	I39L	probably benign	Het
Vps13b	A	T	15: 35,841,457 (GRCm39)	M2496L	possibly damaging	Het
Zbtb5	C	T	4: 44,994,332 (GRCm39)	V351M	probably damaging	Het
Zeb2	T	A	2: 44,887,876 (GRCm39)	T394S	possibly damaging	Het
Zfp352	A	G	4: 90,112,943 (GRCm39)	E361G	probably damaging	Het
Zfp54	C	A	17: 21,654,629 (GRCm39)	Y374*	probably null	Het
Zfp869	C	A	8: 70,159,596 (GRCm39)	G326W	probably damaging	Het
Zfyve28	C	T	5: 34,354,892 (GRCm39)	A806T	probably benign	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
R8992:Chi3l1	UTSW	1	134,115,662 (GRCm39)	missense	probably benign	0.01
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
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'- TGCCGTGCAGTACATGATACG -3'
(R):5'- TTTCCTGGACTGGAATGAAGG -3'

Sequencing Primer
(F):5'- TACATGATACGTCTGGGAGCC -3'
(R):5'- TCTGAGGCCAGAGGAATGTTC -3'

Posted On

2022-07-18