Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Chil1'

151638

Institutional Source

Beutler Lab

Gene Symbol

Chil1

Ensembl Gene

ENSMUSG00000064246

Gene Name

chitinase-like 1

Synonyms

Brp39, Gp39, Chi3l1

MMRRC Submission

039330-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134182176-134190181 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134189242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 315 (E315K)

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: E323K

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

SMART Domains

Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: E323K

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: ENSMUST00000153856
AA Change: E315K

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

SMART Domains

Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: E315K

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: E313K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: E313K

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Chil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Chil1	APN	1	134187973	missense	possibly damaging	0.89
IGL01305:Chil1	APN	1	134182816	splice site	probably benign
IGL02051:Chil1	APN	1	134184149	missense	probably damaging	1.00
IGL02724:Chil1	APN	1	134189243	missense	probably damaging	1.00
IGL02754:Chil1	APN	1	134183601	missense	probably damaging	1.00
R0071:Chil1	UTSW	1	134185279	missense	probably benign	0.08
R0071:Chil1	UTSW	1	134185279	missense	probably benign	0.08
R0662:Chil1	UTSW	1	134188573	missense	probably damaging	1.00
R1728:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1729:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1730:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1739:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1762:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1783:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1784:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R1785:Chil1	UTSW	1	134188529	missense	probably damaging	1.00
R4992:Chil1	UTSW	1	134188626	missense	probably benign	0.03
R5860:Chil1	UTSW	1	134185171	missense	probably benign	0.00
R6019:Chil1	UTSW	1	134189572	missense	probably benign	0.00
R6320:Chil1	UTSW	1	134182258	start codon destroyed	probably null	0.07
R7748:Chil1	UTSW	1	134189228	missense	probably benign	0.00
R8419:Chil1	UTSW	1	134189542	missense	probably damaging	1.00
R8992:Chil1	UTSW	1	134187924	missense	probably benign	0.01
R9051:Chil1	UTSW	1	134184181	critical splice donor site	probably null
R9238:Chil1	UTSW	1	134187947	missense	probably damaging	1.00
R9509:Chil1	UTSW	1	134188675	missense	probably damaging	1.00
RF012:Chil1	UTSW	1	134185171	missense	probably benign
X0025:Chil1	UTSW	1	134183632	missense	possibly damaging	0.62
Z1088:Chil1	UTSW	1	134189500	missense	probably benign	0.00
Z1176:Chil1	UTSW	1	134182779	critical splice acceptor site	probably null
Z1176:Chil1	UTSW	1	134189230	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAATTTGCATGAAGCCAGCAGCC -3'
(R):5'- TGGAAATCATCCAAATCCAGTGCCC -3'

Sequencing Primer
(F):5'- AAGCCAGCAGCCTGGAG -3'
(R):5'- TTCAGGAACCCAACCTGGTG -3'

Posted On

2014-01-29