Mutagenetix > Incidental Mutation

Incidental Mutation 'R6910:Chil5'

543656

Institutional Source

Beutler Lab

Gene Symbol

Chil5

Ensembl Gene

ENSMUSG00000043873

Gene Name

chitinase-like 5

Synonyms

Chi3l7, Bclp2, Bclp1

MMRRC Submission

045002-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105924235-105940130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105926977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 82 (W82R)

Gene Model

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

AlphaFold

A0A0G2JDS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000054973
AA Change: W82R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052345
Gene: ENSMUSG00000043873
AA Change: W82R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066537

SMART Domains

Protein: ENSMUSP00000065043
Gene: ENSMUSG00000043873

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

Predicted Effect

silent
Transcript: ENSMUST00000200146

SMART Domains

Protein: ENSMUSP00000142477
Gene: ENSMUSG00000043873

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap54	A	G	10: 92,672,374 (GRCm39)	S2899P	probably benign	Het
Dennd3	A	G	15: 73,426,965 (GRCm39)	T781A	probably benign	Het
Epha2	A	G	4: 141,048,824 (GRCm39)	D597G	probably damaging	Het
Gcn1	A	G	5: 115,744,597 (GRCm39)	T1598A	probably benign	Het
Glp2r	A	G	11: 67,621,497 (GRCm39)	F162S	probably benign	Het
Gm17655	T	A	5: 110,195,039 (GRCm39)	R248*	probably null	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Hapln2	A	G	3: 87,931,135 (GRCm39)	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,909,875 (GRCm39)	T463K	probably damaging	Het
Ift80	A	C	3: 68,835,068 (GRCm39)	S458A	probably benign	Het
Lama1	A	G	17: 68,098,459 (GRCm39)	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801 (GRCm39)	I171T	probably benign	Het
Micu1	A	G	10: 59,576,489 (GRCm39)	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,532,080 (GRCm39)	V9A	unknown	Het
Ncoa7	T	G	10: 30,570,117 (GRCm39)	I281L	possibly damaging	Het
Nms	A	G	1: 38,980,976 (GRCm39)	E54G	probably benign	Het
Nrip1	G	A	16: 76,091,305 (GRCm39)	A84V	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or11g27	G	A	14: 50,771,330 (GRCm39)	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,881,285 (GRCm39)	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,935,024 (GRCm39)	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr3	T	C	2: 112,788,520 (GRCm39)	D170G	probably damaging	Het
Sanbr	A	G	11: 23,570,447 (GRCm39)	V151A	probably damaging	Het
Scp2	C	A	4: 107,962,283 (GRCm39)	G81C	probably damaging	Het
Sez6	A	G	11: 77,844,695 (GRCm39)	T173A	possibly damaging	Het
Syne1	T	C	10: 4,998,887 (GRCm39)	H8142R	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,772,272 (GRCm39)	T520A	probably damaging	Het
Tpm1	A	G	9: 66,939,256 (GRCm39)	S170P	probably damaging	Het
Try5	T	C	6: 41,288,733 (GRCm39)	D54G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,673,475 (GRCm39)	F178L	probably benign	Het
Zan	T	C	5: 137,417,342 (GRCm39)	E3041G	unknown	Het
Zfp1001	A	T	2: 150,165,987 (GRCm39)	Q56L	probably benign	Het
Zfp616	A	T	11: 73,975,828 (GRCm39)	H699L	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
R5045:Chil5	UTSW	3	105,931,456 (GRCm39)	missense	possibly damaging	0.61
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
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'- AGGCCTTAGTTAGATCTGTGC -3'
(R):5'- GAACTCCTGTAAGAGCATAAGCAG -3'

Sequencing Primer
(F):5'- ATCTGTGCTGGGTTATATTACTTGCC -3'
(R):5'- AAGCAGAGGATCTTAATTCTTGGG -3'

Posted On

2019-04-30