Mutagenetix > Incidental Mutation

Incidental Mutation 'R5045:Chil5'

394309

Institutional Source

Beutler Lab

Gene Symbol

Chil5

Ensembl Gene

ENSMUSG00000043873

Gene Name

chitinase-like 5

Synonyms

Chi3l7, Bclp2, Bclp1

MMRRC Submission

042635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5045 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105924235-105940130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105931456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 136 (N136S)

Ref Sequence

ENSEMBL: ENSMUSP00000142477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066537] [ENSMUST00000200146]

AlphaFold

A0A0G2JDS2

Predicted Effect

unknown
Transcript: ENSMUST00000054973
AA Change: N40S

SMART Domains

Protein: ENSMUSP00000052345
Gene: ENSMUSG00000043873
AA Change: N40S

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_18	1	156	5.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066537
AA Change: N39S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000065043
Gene: ENSMUSG00000043873
AA Change: N39S

Domain	Start	End	E-Value	Type
Glyco_18	1	174	2.61e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200146
AA Change: N136S

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142477
Gene: ENSMUSG00000043873
AA Change: N136S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Glyco_18	22	365	2.1e-133	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,327 (GRCm39)		probably benign	Het
2210408I21Rik	A	G	13: 77,415,927 (GRCm39)		probably null	Het
4930519P11Rik	A	T	2: 154,454,950 (GRCm39)	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,454,982 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,860 (GRCm39)	H1189L	probably damaging	Het
Arhgap24	A	G	5: 103,039,743 (GRCm39)	I227V	possibly damaging	Het
Arhgap29	C	A	3: 121,796,244 (GRCm39)	N445K	probably benign	Het
Atp13a3	T	C	16: 30,158,694 (GRCm39)	H811R	probably benign	Het
Cd2ap	T	C	17: 43,118,851 (GRCm39)	N529S	probably benign	Het
Cdh20	T	A	1: 110,026,080 (GRCm39)	S439T	probably benign	Het
Ces3a	G	T	8: 105,777,248 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,230,080 (GRCm39)	N408K	probably benign	Het
Col20a1	A	G	2: 180,648,638 (GRCm39)	D933G	probably damaging	Het
Crh	A	T	3: 19,748,153 (GRCm39)	L163*	probably null	Het
Ctps1	A	C	4: 120,410,075 (GRCm39)		probably null	Het
Cyb5d2	A	G	11: 72,686,401 (GRCm39)	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,275,272 (GRCm39)		probably null	Het
Dclk3	A	T	9: 111,296,856 (GRCm39)	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,223,339 (GRCm39)	D29G	probably benign	Het
Disp2	G	A	2: 118,622,543 (GRCm39)	E1092K	probably benign	Het
Enpp3	A	G	10: 24,652,665 (GRCm39)	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,102,427 (GRCm39)	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,568,711 (GRCm39)	I272V	probably benign	Het
Fgb	T	C	3: 82,950,680 (GRCm39)	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,683,695 (GRCm39)	S142T	unknown	Het
Golga4	A	G	9: 118,394,724 (GRCm39)	T9A	probably benign	Het
Hmcn2	C	T	2: 31,299,093 (GRCm39)	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,547,440 (GRCm39)	G34R	probably damaging	Het
Kalrn	A	C	16: 34,134,722 (GRCm39)	Y353*	probably null	Het
Klrk1	T	C	6: 129,594,466 (GRCm39)	Y42C	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mbtd1	T	C	11: 93,822,641 (GRCm39)	Y484H	probably benign	Het
Mki67	T	C	7: 135,309,633 (GRCm39)	R273G	possibly damaging	Het
Myh11	A	T	16: 14,057,391 (GRCm39)	L308*	probably null	Het
Nacc2	G	A	2: 25,980,150 (GRCm39)		probably null	Het
Nadsyn1	A	G	7: 143,360,706 (GRCm39)	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,110,172 (GRCm39)	Q354L	probably benign	Het
Or10ag58	A	T	2: 87,265,490 (GRCm39)	I220L	probably damaging	Het
Or52r1c	G	A	7: 102,735,664 (GRCm39)	G308E	probably benign	Het
Phactr3	T	C	2: 177,973,412 (GRCm39)	I470T	probably damaging	Het
Pkd1l3	C	T	8: 110,349,787 (GRCm39)	P211S	unknown	Het
Potefam1	T	A	2: 111,023,804 (GRCm39)	Q110L	unknown	Het
Prickle2	T	C	6: 92,353,375 (GRCm39)	D753G	probably damaging	Het
Prr12	A	G	7: 44,699,318 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,166,477 (GRCm39)	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,697,268 (GRCm39)	K551*	probably null	Het
Stag3	T	C	5: 138,302,740 (GRCm39)	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,570,618 (GRCm39)	Q378L	possibly damaging	Het
Tdpoz8	G	T	3: 92,981,524 (GRCm39)	D181Y	probably damaging	Het
Tespa1	A	T	10: 130,197,904 (GRCm39)	K309*	probably null	Het
Trim69	A	G	2: 122,004,727 (GRCm39)	T275A	probably benign	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,622,751 (GRCm39)	F72L	probably damaging	Het
Vmn2r59	A	T	7: 41,695,496 (GRCm39)	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,273,597 (GRCm39)	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159 (GRCm39)	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,099,182 (GRCm39)	H375R	probably damaging	Het

Other mutations in Chil5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Chil5	APN	3	105,924,468 (GRCm39)	missense	possibly damaging	0.73
IGL02959:Chil5	APN	3	105,926,906 (GRCm39)	missense	probably damaging	1.00
R0255:Chil5	UTSW	3	105,926,583 (GRCm39)	missense	probably damaging	1.00
R0409:Chil5	UTSW	3	105,942,282 (GRCm39)	unclassified	probably benign
R0635:Chil5	UTSW	3	105,924,519 (GRCm39)	missense	possibly damaging	0.50
R1403:Chil5	UTSW	3	105,925,409 (GRCm39)	missense	probably benign	0.06
R1403:Chil5	UTSW	3	105,925,409 (GRCm39)	missense	probably benign	0.06
R3500:Chil5	UTSW	3	105,925,536 (GRCm39)	missense	probably damaging	1.00
R4426:Chil5	UTSW	3	105,926,943 (GRCm39)	missense	probably damaging	0.96
R4680:Chil5	UTSW	3	105,942,191 (GRCm39)	unclassified	probably benign
R4998:Chil5	UTSW	3	105,927,248 (GRCm39)	missense	probably damaging	0.99
R5113:Chil5	UTSW	3	105,925,294 (GRCm39)	missense	possibly damaging	0.91
R5274:Chil5	UTSW	3	105,936,169 (GRCm39)	missense	probably damaging	1.00
R5627:Chil5	UTSW	3	105,926,951 (GRCm39)	missense	probably damaging	1.00
R6910:Chil5	UTSW	3	105,926,977 (GRCm39)	missense	probably damaging	1.00
R7476:Chil5	UTSW	3	105,927,323 (GRCm39)	missense	possibly damaging	0.69
R8772:Chil5	UTSW	3	105,925,536 (GRCm39)	missense	probably damaging	1.00
R9730:Chil5	UTSW	3	105,926,470 (GRCm39)	missense	possibly damaging	0.80
Z1177:Chil5	UTSW	3	105,936,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTCAGTTGAGTTTGGGCTTACTC -3'
(R):5'- TATGCACCAGGTTGAGACATCC -3'

Sequencing Primer
(F):5'- GGGCTTACTCTGTAACTACCG -3'
(R):5'- CACCAGGTTGAGACATCCTAGTG -3'

Posted On

2016-06-15