Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Chi3l1'

305108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chi3l1

Ensembl Gene

ENSMUSG00000064246

Gene Name

chitinase 3 like 1

Synonyms

Brp39, Chil1, Gp39

Accession Numbers

Essential gene?

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

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

134109894-134117769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 134116981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 315 (E315A)

Ref Sequence

ENSEMBL: ENSMUSP00000117117 (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 benign
Transcript: ENSMUST00000082060
AA Change: E323A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: E323A

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

noncoding transcript
Transcript: ENSMUST00000134812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144819

Predicted Effect

probably damaging
Transcript: ENSMUST00000153856
AA Change: E315A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: E315A

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: E313A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: E313A

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	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
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
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

Posted On

2015-04-16