Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Chi3l1'

596957

Institutional Source

Beutler Lab

Gene Symbol

Chi3l1

Ensembl Gene

ENSMUSG00000064246

Gene Name

chitinase 3 like 1

Synonyms

Brp39, Chil1, Gp39

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

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

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134109894-134117769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134116966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 318 (H318R)

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 benign
Transcript: ENSMUST00000082060
AA Change: H318R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: H318R

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: H310R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: H310R

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: H308R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: H308R

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,963,521 (GRCm39)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,223,765 (GRCm39)	L103P	unknown	Het
Actb	T	C	5: 142,890,450 (GRCm39)	I151V	probably benign	Het
Adcy6	T	A	15: 98,502,437 (GRCm39)	H59L	probably benign	Het
Adss2	G	C	1: 177,599,768 (GRCm39)	S272*	probably null	Het
Aga	A	T	8: 53,964,840 (GRCm39)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,468,971 (GRCm39)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgap45	A	T	10: 79,852,766 (GRCm39)		probably benign	Het
Atp6v0a2	A	T	5: 124,793,560 (GRCm39)	H639L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,013,484 (GRCm39)		probably null	Het
Bod1l	A	C	5: 41,989,683 (GRCm39)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,627,996 (GRCm39)	D46G	probably damaging	Het
Camk1	T	C	6: 113,317,289 (GRCm39)	E60G	probably damaging	Het
Capza1	A	T	3: 104,732,721 (GRCm39)		probably null	Het
Ccdc18	T	A	5: 108,296,907 (GRCm39)		probably null	Het
Cdh20	G	A	1: 104,869,024 (GRCm39)	A172T	probably damaging	Het
Cdk4	C	T	10: 126,900,298 (GRCm39)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,888 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,246,459 (GRCm39)	M1092V	probably benign	Het
Chd6	A	T	2: 160,808,539 (GRCm39)	H1558Q	probably benign	Het
Cps1	A	G	1: 67,178,965 (GRCm39)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 86,914,434 (GRCm39)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,572,546 (GRCm39)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,217,024 (GRCm39)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,451,834 (GRCm39)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,068,050 (GRCm39)	S940P	probably benign	Het
Fam234b	T	A	6: 135,186,349 (GRCm39)	V119E	probably damaging	Het
Fbxo46	G	C	7: 18,870,458 (GRCm39)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,572,505 (GRCm39)		probably benign	Het
Fmn2	T	A	1: 174,494,215 (GRCm39)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm39)	T64K	probably damaging	Het
Fscb	A	T	12: 64,521,181 (GRCm39)	M95K	probably benign	Het
Fyb1	T	G	15: 6,668,307 (GRCm39)	V500G	probably damaging	Het
G2e3	A	G	12: 51,418,450 (GRCm39)	N615S	probably benign	Het
Gart	T	C	16: 91,427,540 (GRCm39)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,313,224 (GRCm39)	D696V	probably benign	Het
Glmn	C	T	5: 107,710,110 (GRCm39)		probably null	Het
Gm47985	A	T	1: 151,058,725 (GRCm39)	D122V	probably damaging	Het
Gm7168	A	G	17: 14,168,914 (GRCm39)	K94E	probably benign	Het
Gnai2	T	C	9: 107,492,934 (GRCm39)	H323R		Het
Helz2	C	T	2: 180,876,324 (GRCm39)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,858,413 (GRCm39)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,928,270 (GRCm39)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,154,911 (GRCm39)	R343S	probably damaging	Het
Itga8	T	A	2: 12,235,050 (GRCm39)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,428,973 (GRCm39)	M558L	probably benign	Het
Krt33a	C	T	11: 99,902,428 (GRCm39)	R404H	probably benign	Het
Krt34	T	A	11: 99,929,764 (GRCm39)	E244V	probably damaging	Het
Krt42	T	C	11: 100,157,792 (GRCm39)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,585 (GRCm39)	L553P		Het
Lcn9	T	A	2: 25,714,926 (GRCm39)	*179K	probably null	Het
Ldaf1	A	T	7: 119,714,702 (GRCm39)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,809,999 (GRCm39)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,916 (GRCm39)	V257A	probably damaging	Het
Masp2	T	C	4: 148,690,163 (GRCm39)	I224T	probably benign	Het
Mpz	A	T	1: 170,987,509 (GRCm39)		probably null	Het
Mtr	C	T	13: 12,242,725 (GRCm39)	A442T	probably benign	Het
Muc5b	A	G	7: 141,401,542 (GRCm39)	K596R	unknown	Het
Myo15a	T	G	11: 60,395,727 (GRCm39)	F1397C		Het
Ncor2	T	C	5: 125,187,031 (GRCm39)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,045,800 (GRCm39)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,545,627 (GRCm39)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,493,285 (GRCm39)	T115A	probably benign	Het
Or1e22	T	G	11: 73,376,994 (GRCm39)	I219L	probably benign	Het
Pds5a	T	A	5: 65,777,009 (GRCm39)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,872 (GRCm39)	R966L	possibly damaging	Het
Plk3	T	C	4: 116,988,925 (GRCm39)	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,314,334 (GRCm39)		probably null	Het
Plxna1	T	A	6: 89,314,335 (GRCm39)		probably null	Het
Ppp4r4	G	A	12: 103,571,320 (GRCm39)		probably null	Het
Pramel6	T	A	2: 87,339,043 (GRCm39)	V81E	probably damaging	Het
Prdm2	T	C	4: 142,862,459 (GRCm39)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,970,491 (GRCm39)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,239,497 (GRCm39)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,190 (GRCm39)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,655,031 (GRCm39)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,017,741 (GRCm39)	I744V	probably null	Het
Rad54l2	A	G	9: 106,596,233 (GRCm39)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,415 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,777,832 (GRCm39)	D447E	probably benign	Het
Rtn1	C	T	12: 72,263,700 (GRCm39)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,436,140 (GRCm39)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,096,722 (GRCm39)	M1T	probably null	Het
Slc1a4	T	C	11: 20,282,252 (GRCm39)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,031,940 (GRCm39)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,289,426 (GRCm39)	I226V	probably benign	Het
Spata22	T	G	11: 73,227,080 (GRCm39)	I98S	probably null	Het
Spef2	C	T	15: 9,653,031 (GRCm39)	V917M	probably damaging	Het
Sspo	C	A	6: 48,426,399 (GRCm39)	C139*	probably null	Het
Tenm4	A	G	7: 96,543,909 (GRCm39)	D2012G	probably damaging	Het
Tgm5	G	A	2: 120,883,289 (GRCm39)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,006,753 (GRCm39)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm39)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,888,569 (GRCm39)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,985,250 (GRCm39)	D19E	unknown	Het
Usp17lc	A	G	7: 103,067,688 (GRCm39)	T328A	probably damaging	Het
Utrn	A	G	10: 12,490,252 (GRCm39)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,955,549 (GRCm39)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,570,343 (GRCm39)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,870,371 (GRCm39)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,236,720 (GRCm39)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp773	T	C	7: 7,135,907 (GRCm39)	R230G	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
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'- CTTGGGCAATAGCAGCTGAAC -3'
(R):5'- TTCTCCTTCAGGAACCCAAC -3'

Sequencing Primer
(F):5'- GCAGCTGAACTCTGAGATATTTGC -3'
(R):5'- AAACTGTGCTCTGGGGCC -3'

Posted On

2019-11-26