Mutagenetix > Incidental Mutation

Incidental Mutation 'R6269:Chil4'

507204

Institutional Source

Beutler Lab

Gene Symbol

Chil4

Ensembl Gene

ENSMUSG00000063779

Gene Name

chitinase-like 4

Synonyms

Ym2, Chi3l4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6269 (G1)

Quality Score

186.009

Status

Not validated

Chromosome

Chromosomal Location

106201490-106219507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106204171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 209 (V209A)

Ref Sequence

ENSEMBL: ENSMUSP00000080851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082219]

AlphaFold

Q91Z98

Predicted Effect

probably damaging
Transcript: ENSMUST00000082219
AA Change: V209A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: V209A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Glyco_18	22	365	1.77e-132	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,964,051	I609N	unknown	Het
Ano10	A	T	9: 122,261,242	I277N	probably damaging	Het
Ap2b1	A	G	11: 83,346,673	D483G	probably damaging	Het
As3mt	T	A	19: 46,719,952	F226Y	probably damaging	Het
Atp10a	G	A	7: 58,803,739	R855H	possibly damaging	Het
Bin3	T	A	14: 70,137,162	H213Q	probably benign	Het
Bora	T	C	14: 99,073,667	C512R	probably damaging	Het
Camk2b	T	A	11: 5,978,497	D414V	probably damaging	Het
Ccdc27	A	T	4: 154,037,722	L233Q	unknown	Het
Ccdc73	T	C	2: 104,907,633	S25P	probably damaging	Het
Cenpf	G	A	1: 189,659,920	H572Y	probably benign	Het
Clstn1	T	C	4: 149,644,067	V650A	probably benign	Het
Cox6a2	T	A	7: 128,206,265	S11C	probably benign	Het
Csf1	T	C	3: 107,749,001	E238G	probably benign	Het
Cyp2c23	T	A	19: 44,029,187	M1L	unknown	Het
Cyp4a10	T	A	4: 115,524,312	M191K	probably damaging	Het
Cyp4a14	A	G	4: 115,491,131	V383A	possibly damaging	Het
D130052B06Rik	T	G	11: 33,623,916	V171G	possibly damaging	Het
Dlgap2	A	G	8: 14,822,369	T617A	probably benign	Het
Dyrk4	T	A	6: 126,886,727	I351F	probably damaging	Het
Epg5	T	C	18: 77,948,370	V94A	probably benign	Het
Fam111a	A	G	19: 12,588,443	T519A	probably benign	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Gdpd4	A	G	7: 97,974,462	S314G	probably damaging	Het
Gm9758	T	A	5: 14,912,260	K111N	possibly damaging	Het
Gpr137b	A	T	13: 13,363,511	V285E	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Itgal	T	A	7: 127,330,217	L1102Q	probably null	Het
Kctd19	T	A	8: 105,395,360	Y185F	possibly damaging	Het
Kif5b	A	G	18: 6,223,558	L317P	possibly damaging	Het
Klhl42	C	A	6: 147,092,307	A259E	probably damaging	Het
Lrrc2	A	G	9: 110,980,949	D351G	probably damaging	Het
Med12l	A	G	3: 59,227,822	E797G	probably damaging	Het
Mink1	A	G	11: 70,598,987	E63G	probably damaging	Het
Nek9	T	C	12: 85,332,329		probably null	Het
Olfr1120	A	T	2: 87,846,874	H201L	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Parp6	G	A	9: 59,650,012	V627I	probably benign	Het
Pclo	C	T	5: 14,522,094	Q498*	probably null	Het
Pdlim5	T	C	3: 142,312,325	T170A	possibly damaging	Het
Pgap1	A	T	1: 54,548,008	Y136*	probably null	Het
Pgghg	T	A	7: 140,946,184	N563K	probably damaging	Het
Plxnb2	A	G	15: 89,160,713	M1143T	probably benign	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Prc1	G	A	7: 80,309,427	R381Q	probably damaging	Het
Psph	A	T	5: 129,766,465	I175N	probably damaging	Het
Rbbp8nl	T	A	2: 180,281,512	K131*	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Homo
Sde2	G	A	1: 180,855,806	V42I	probably benign	Het
Slc25a3	G	A	10: 91,117,101	R314*	probably null	Het
Spag9	A	G	11: 94,044,507	N48S	probably benign	Het
Srp54b	T	C	12: 55,255,972	M351T	possibly damaging	Het
Tcaf2	A	G	6: 42,627,408	L679P	probably damaging	Het
Tnrc6b	T	A	15: 80,880,743	N815K	probably benign	Het
Usp17la	A	T	7: 104,860,350	Q54L	possibly damaging	Het
Vmn2r92	T	A	17: 18,166,774	I125K	probably benign	Het
Xrra1	T	C	7: 99,917,472	Y732H	probably damaging	Het
Zfp131	A	G	13: 119,766,405	S603P	possibly damaging	Het
Zfp28	G	T	7: 6,393,613	S349I	probably benign	Het

Other mutations in Chil4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Chil4	APN	3	106201797	missense	probably benign
IGL02457:Chil4	APN	3	106214399	missense	probably benign
R1087:Chil4	UTSW	3	106210565	missense	probably benign	0.01
R1398:Chil4	UTSW	3	106219509	splice site	probably null
R1503:Chil4	UTSW	3	106206034	missense	probably benign
R1553:Chil4	UTSW	3	106203690	missense	probably benign	0.02
R1806:Chil4	UTSW	3	106210643	splice site	probably benign
R1873:Chil4	UTSW	3	106206098	missense	probably benign	0.00
R2069:Chil4	UTSW	3	106219455	missense	probably benign	0.16
R2100:Chil4	UTSW	3	106214347	missense	probably benign
R2370:Chil4	UTSW	3	106214300	nonsense	probably null
R2984:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R2985:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R3522:Chil4	UTSW	3	106203740	missense	probably benign	0.08
R3919:Chil4	UTSW	3	106202532	missense	probably benign	0.00
R4033:Chil4	UTSW	3	106214449	missense	probably damaging	1.00
R4181:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R4184:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R4301:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R4347:Chil4	UTSW	3	106202828	missense	probably benign
R4391:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R4395:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R4418:Chil4	UTSW	3	106203727	missense	possibly damaging	0.95
R4483:Chil4	UTSW	3	106214362	missense	probably damaging	1.00
R4544:Chil4	UTSW	3	106210606	missense	probably damaging	0.97
R4887:Chil4	UTSW	3	106204144	missense	probably benign	0.01
R4949:Chil4	UTSW	3	106206092	missense	possibly damaging	0.83
R5076:Chil4	UTSW	3	106202597	missense	probably damaging	1.00
R5146:Chil4	UTSW	3	106202834	missense	probably benign	0.18
R5254:Chil4	UTSW	3	106219452	missense	probably benign	0.00
R5521:Chil4	UTSW	3	106203697	missense	possibly damaging	0.50
R5790:Chil4	UTSW	3	106202578	missense	probably benign	0.00
R5883:Chil4	UTSW	3	106210570	missense	possibly damaging	0.48
R6010:Chil4	UTSW	3	106214395	missense	probably damaging	1.00
R6257:Chil4	UTSW	3	106204096	missense	possibly damaging	0.84
R6602:Chil4	UTSW	3	106210590	missense	probably benign	0.00
R7113:Chil4	UTSW	3	106202767	missense	probably damaging	1.00
R7113:Chil4	UTSW	3	106214348	missense	probably benign
R7188:Chil4	UTSW	3	106204159	missense	probably damaging	1.00
R7980:Chil4	UTSW	3	106202744	missense	probably damaging	1.00
R8810:Chil4	UTSW	3	106201805	missense	probably damaging	0.99
R9300:Chil4	UTSW	3	106202558	missense	probably benign	0.10
R9307:Chil4	UTSW	3	106204066	critical splice donor site	probably null
R9529:Chil4	UTSW	3	106211340	missense	probably damaging	1.00
X0067:Chil4	UTSW	3	106206034	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTAGAACCTCTGGTAACCTGTG -3'
(R):5'- TTTCAGCCCACATAGCAGTAG -3'

Sequencing Primer
(F):5'- CCTCTGGTAACCTGTGTTTATATAGG -3'
(R):5'- GCCCACATAGCAGTAGAAAAATG -3'

Posted On

2018-03-15