Mutagenetix > Incidental Mutation

Incidental Mutation 'R4992:Chi3l1'

386233

Institutional Source

Beutler Lab

Gene Symbol

Chi3l1

Ensembl Gene

ENSMUSG00000064246

Gene Name

chitinase 3 like 1

Synonyms

Brp39, Chil1, Gp39

MMRRC Submission

042586-MU

Accession Numbers

Essential gene?

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

Stock #

R4992 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134109894-134117769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134116364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 282 (E282D)

Ref Sequence

ENSEMBL: ENSMUSP00000117117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038445] [ENSMUST00000082060] [ENSMUST00000132873] [ENSMUST00000133701] [ENSMUST00000156873] [ENSMUST00000153856] [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: E290D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: E290D

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 benign
Transcript: ENSMUST00000156873
AA Change: E280D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: E280D

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: ENSMUST00000153856
AA Change: E282D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: E282D

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,948,203 (GRCm39)	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,151,101 (GRCm39)	E27V	probably damaging	Het
Acsm4	T	A	7: 119,310,640 (GRCm39)	I509N	probably benign	Het
Asb18	T	C	1: 89,880,585 (GRCm39)	M143V	probably benign	Het
Birc6	A	G	17: 74,996,251 (GRCm39)	D4475G	probably benign	Het
Bsn	A	T	9: 107,992,747 (GRCm39)	S1002T	probably damaging	Het
Bub3	T	C	7: 131,162,535 (GRCm39)	S33P	probably damaging	Het
Ccna1	T	A	3: 54,957,311 (GRCm39)	R35S	probably damaging	Het
Cdc23	T	A	18: 34,779,972 (GRCm39)	M119L	probably benign	Het
Ces1a	A	G	8: 93,771,650 (GRCm39)	V49A	probably benign	Het
Crocc	G	A	4: 140,773,977 (GRCm39)	A220V	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dennd5a	A	G	7: 109,493,919 (GRCm39)	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,357,064 (GRCm39)	K200R	unknown	Het
Ect2l	A	G	10: 18,048,477 (GRCm39)	F156S	probably benign	Het
Egf	T	C	3: 129,505,179 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Elmo3	T	A	8: 106,036,133 (GRCm39)	Y607*	probably null	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Ephb2	A	G	4: 136,388,150 (GRCm39)	V651A	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gcn1	T	C	5: 115,737,225 (GRCm39)	V1321A	probably benign	Het
Gimd1	A	T	3: 132,340,718 (GRCm39)	Y78F	probably benign	Het
Glmn	T	G	5: 107,705,167 (GRCm39)	D483A	probably damaging	Het
Gsr	C	T	8: 34,183,941 (GRCm39)	T401I	probably damaging	Het
Htr3b	G	A	9: 48,870,518 (GRCm39)	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,745,777 (GRCm39)	V42A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Inpp4b	A	T	8: 82,759,837 (GRCm39)	R627S	probably damaging	Het
Kif13a	C	T	13: 46,930,639 (GRCm39)	V142M	probably damaging	Het
Lims1	A	C	10: 58,246,063 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,202,475 (GRCm39)	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,835,748 (GRCm39)	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,386,343 (GRCm39)	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,096,743 (GRCm39)	D523E	probably benign	Het
Mphosph9	T	C	5: 124,442,253 (GRCm39)	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,649,834 (GRCm39)	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,190,792 (GRCm39)	V781A	possibly damaging	Het
Ncoa3	T	A	2: 165,911,859 (GRCm39)	M1395K	probably benign	Het
Nhlrc2	T	A	19: 56,558,966 (GRCm39)	D150E	probably benign	Het
Nlrp9a	T	C	7: 26,256,811 (GRCm39)	V54A	probably benign	Het
Or1e32	G	A	11: 73,705,146 (GRCm39)	T254I	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Parp14	A	T	16: 35,661,512 (GRCm39)	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,423,484 (GRCm39)	V176A	probably damaging	Het
Pibf1	T	A	14: 99,388,103 (GRCm39)	N416K	probably damaging	Het
Pip4p1	A	G	14: 51,166,690 (GRCm39)	V179A	probably damaging	Het
Polb	A	T	8: 23,135,087 (GRCm39)	V115E	probably damaging	Het
Polq	T	A	16: 36,881,524 (GRCm39)	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,876,508 (GRCm39)	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,004,033 (GRCm39)	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,819,669 (GRCm39)		probably null	Het
Rgs1	C	A	1: 144,122,060 (GRCm39)	K77N	probably damaging	Het
Rnf112	T	A	11: 61,343,537 (GRCm39)	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,770,325 (GRCm39)	E117*	probably null	Het
Robo1	G	A	16: 72,776,756 (GRCm39)	V743I	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Scarf1	T	C	11: 75,413,056 (GRCm39)	L434P	probably damaging	Het
Sgsm1	A	T	5: 113,430,486 (GRCm39)	S300T	possibly damaging	Het
Slc26a7	T	G	4: 14,565,508 (GRCm39)	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,310,579 (GRCm39)	K403E	probably damaging	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Sptlc3	G	A	2: 139,437,923 (GRCm39)	V406I	probably benign	Het
Tgds	A	C	14: 118,355,175 (GRCm39)	Y197D	probably damaging	Het
Tll1	G	T	8: 64,546,978 (GRCm39)	R323S	probably damaging	Het
Trim14	A	G	4: 46,507,110 (GRCm39)	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,199,112 (GRCm39)		noncoding transcript	Het
Ube3a	T	A	7: 58,934,568 (GRCm39)	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 109,145,592 (GRCm39)	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,510,765 (GRCm39)	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,003,070 (GRCm39)	Q160L	probably benign	Het
Vmn2r75	A	C	7: 85,815,375 (GRCm39)		probably null	Het
Vps8	A	G	16: 21,280,158 (GRCm39)	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,703,300 (GRCm39)	S32P	probably benign	Het
Zfp366	T	C	13: 99,366,003 (GRCm39)	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,605,599 (GRCm39)	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,686,983 (GRCm39)	N784I	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
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

Predicted Primers

PCR Primer
(F):5'- CTGTCTCAGCAGGATTAGTGG -3'
(R):5'- AAAGGCTTAGGGTCCCTCTTTC -3'

Sequencing Primer
(F):5'- TCTCAGCAGGATTAGTGGTACAACC -3'
(R):5'- CCTTCTCCCAGGGAATGC -3'

Posted On

2016-05-10