Mutagenetix > Incidental Mutations

Incidental Mutation 'R5633:Chil6'

439967

Institutional Source

Beutler Lab

Gene Symbol

Chil6

Ensembl Gene

ENSMUSG00000027902

Gene Name

chitinase-like 6

Synonyms

BYm, BC051070

MMRRC Submission

043284-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106387384-106406182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106388752 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 389 (C389F)

Ref Sequence

ENSEMBL: ENSMUSP00000029510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029510]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029510
AA Change: C389F

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

SMART Domains

Protein: ENSMUSP00000029510
Gene: ENSMUSG00000027902
AA Change: C389F

Domain	Start	End	E-Value	Type
Glyco_18	39	382	3.04e-122	SMART

Meta Mutation Damage Score

0.8558

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,618,028	C125S	probably benign	Het
Abcb8	T	C	5: 24,403,109	L382P	probably damaging	Het
Acot3	A	G	12: 84,058,950		probably null	Het
Acsl6	A	T	11: 54,337,189	Q345L	probably benign	Het
Adcy8	A	G	15: 64,699,285	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,735,065	D182A	probably damaging	Het
B3galt5	A	T	16: 96,315,509	H114L	probably benign	Het
BC053393	C	T	11: 46,574,606	S9L	unknown	Het
Bcas2	T	A	3: 103,178,424	Y207*	probably null	Het
Best1	A	G	19: 9,992,103	L197P	probably benign	Het
Chrna4	T	C	2: 181,029,460	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,363,629		probably benign	Het
Dhcr7	T	C	7: 143,847,423	L441P	probably damaging	Het
Dmtn	T	C	14: 70,604,979	M365V	probably benign	Het
Dmxl1	T	A	18: 49,877,697	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,507,419	D150G	probably benign	Het
Eef2k	C	A	7: 120,873,290		probably benign	Het
Elp2	T	A	18: 24,615,210	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,095		probably null	Het
Gm11559	C	A	11: 99,864,586	C20*	probably null	Het
Gnb2	T	C	5: 137,529,192	I213V	probably benign	Het
Gnb5	C	T	9: 75,344,514	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257	I303N	possibly damaging	Het
Idh1	A	G	1: 65,165,136	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,539,097	Q273*	probably null	Het
Itpkb	A	T	1: 180,327,225		probably benign	Het
Kntc1	C	T	5: 123,819,057	T2143I	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,748,862	D464E	possibly damaging	Het
Med13	A	G	11: 86,278,931		probably benign	Het
Mn1	T	C	5: 111,420,326	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,868,184	L1026Q	possibly damaging	Het
Olfr773	A	T	10: 129,186,849	F191I	probably benign	Het
P4htm	A	C	9: 108,579,723	D428E	probably damaging	Het
Parp8	C	T	13: 116,876,580	R602H	probably damaging	Het
Pkd2	T	A	5: 104,498,506	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,856,488	I359T	probably benign	Het
Rassf6	T	C	5: 90,604,118	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,560,088	I413T	probably damaging	Het
Rpn2	T	A	2: 157,283,596	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,086,990	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,846,587	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,369,261	P163Q	probably damaging	Het
Smc4	T	A	3: 69,008,110	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455	I439K	probably benign	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Trpm2	T	C	10: 77,938,353	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,349	M358T	probably benign	Het
Vmn1r91	A	T	7: 20,101,945	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,561,044	D648G	probably benign	Het
Zpbp2	T	C	11: 98,554,758	I150T	probably damaging	Het

Other mutations in Chil6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Chil6	APN	3	106388825	missense	probably damaging	1.00
IGL01735:Chil6	APN	3	106388688	critical splice donor site	probably null
IGL01795:Chil6	APN	3	106388792	missense	probably damaging	0.96
IGL02505:Chil6	APN	3	106405962	missense	probably benign
IGL03164:Chil6	APN	3	106394398	missense	probably benign	0.04
cold_cut	UTSW	3	106389974	missense	probably damaging	1.00
R0409:Chil6	UTSW	3	106404176	missense	probably benign	0.44
R1761:Chil6	UTSW	3	106394338	missense	probably damaging	1.00
R1967:Chil6	UTSW	3	106391154	missense	possibly damaging	0.84
R2571:Chil6	UTSW	3	106390393	nonsense	probably null
R3024:Chil6	UTSW	3	106388770	missense	probably damaging	1.00
R3829:Chil6	UTSW	3	106405958	missense	probably benign	0.00
R4835:Chil6	UTSW	3	106405974	nonsense	probably null
R4851:Chil6	UTSW	3	106389928	missense	possibly damaging	0.61
R4948:Chil6	UTSW	3	106388672	intron	probably benign
R5056:Chil6	UTSW	3	106394343	missense	probably damaging	1.00
R5244:Chil6	UTSW	3	106389974	missense	probably damaging	1.00
R5555:Chil6	UTSW	3	106389952	missense	possibly damaging	0.87
R5594:Chil6	UTSW	3	106394429	splice site	probably null
R6194:Chil6	UTSW	3	106404876	critical splice donor site	probably null
R6587:Chil6	UTSW	3	106404881	missense	probably benign
R6613:Chil6	UTSW	3	106389875	missense	probably benign	0.25
R6641:Chil6	UTSW	3	106388924	missense	possibly damaging	0.61
R6651:Chil6	UTSW	3	106404260	missense	probably damaging	1.00
R7094:Chil6	UTSW	3	106404170	missense	probably damaging	0.96
R7161:Chil6	UTSW	3	106394412	missense	probably benign	0.01
R7653:Chil6	UTSW	3	106394325	missense	possibly damaging	0.82
X0026:Chil6	UTSW	3	106388968	missense	probably benign	0.02
X0064:Chil6	UTSW	3	106404319	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGTATGGTAGTTAGCAGTTAAAG -3'
(R):5'- CCATGGCAATGAGTGGGTTG -3'

Sequencing Primer
(F):5'- CACGTATACACCTTCTGC -3'
(R):5'- GTTGGCTATGACAATATCAAGAGC -3'

Posted On

2016-11-08