Mutagenetix > Incidental Mutation

Incidental Mutation 'R4544:Chil4'

333658

Institutional Source

Beutler Lab

Gene Symbol

Chil4

Ensembl Gene

ENSMUSG00000063779

Gene Name

chitinase-like 4

Synonyms

Ym2, Chi3l4

MMRRC Submission

041779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4544 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

106201490-106219507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106210606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 116 (R116L)

Ref Sequence

ENSEMBL: ENSMUSP00000080851 (fasta)

Gene Model

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

AlphaFold

Q91Z98

Predicted Effect

probably damaging
Transcript: ENSMUST00000082219
AA Change: R116L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: R116L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196128

Meta Mutation Damage Score

0.7720

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Alg9	C	T	9: 50,805,354	T409M	possibly damaging	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
C1s1	A	G	6: 124,531,540	S497P	probably benign	Het
Ccnyl1	G	T	1: 64,723,576	M347I	probably benign	Het
Cmpk2	A	G	12: 26,478,017	E411G	probably damaging	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Csmd1	A	T	8: 16,710,636	F161Y	possibly damaging	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Dppa3	A	G	6: 122,626,767		probably benign	Het
Ednra	A	G	8: 77,674,911		probably null	Het
Fancd2	A	G	6: 113,572,642		probably null	Het
Fastkd1	C	T	2: 69,712,311	E51K	probably damaging	Het
Fndc1	T	A	17: 7,773,544	D440V	unknown	Het
Gm10093	A	T	17: 78,492,959	T460S	probably benign	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gm9934	A	G	7: 93,052,980		noncoding transcript	Het
Ifi205	T	C	1: 174,026,573	I171M	possibly damaging	Het
Ifi213	T	C	1: 173,582,127		probably null	Het
Insig2	A	T	1: 121,312,192		probably benign	Het
Kdm7a	T	C	6: 39,175,472	R97G	probably benign	Het
Krt23	G	A	11: 99,478,276	T397M	probably benign	Het
Lepr	G	A	4: 101,768,228	V527I	possibly damaging	Het
Lmo2	C	T	2: 103,976,037	P25L	probably damaging	Het
Lsr	C	T	7: 30,971,976	V111M	probably damaging	Het
Mest	T	C	6: 30,740,680	W13R	probably damaging	Het
Mfn2	A	G	4: 147,887,452	V224A	probably benign	Het
Mkx	T	C	18: 7,000,651	Y97C	probably damaging	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Myo9b	T	C	8: 71,327,941	V494A	probably damaging	Het
Nek1	C	T	8: 61,016,304	Q132*	probably null	Het
Olfr446	C	T	6: 42,927,414	S61L	probably damaging	Het
Olfr774	A	C	10: 129,238,158	N3T	probably damaging	Het
Osbpl6	T	C	2: 76,584,492	V409A	possibly damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Pex10	T	C	4: 155,070,495	Y235H	probably benign	Het
Pik3cb	T	A	9: 99,039,759	K1050I	probably damaging	Het
Prss56	A	G	1: 87,184,642	D85G	probably damaging	Het
Psg26	T	C	7: 18,478,539	N297S	probably damaging	Het
Rdh16f1	T	C	10: 127,790,837	L253S	probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Slc7a8	C	G	14: 54,735,790	G240A	possibly damaging	Het
Slc8b1	G	A	5: 120,531,153		probably null	Het
Sorbs1	G	A	19: 40,311,850	T575M	probably damaging	Het
Syne3	T	A	12: 104,959,469	K313M	probably damaging	Het
Tas2r108	A	G	6: 40,493,808	T73A	probably benign	Het
Ttn	T	C	2: 76,822,588		probably null	Het
Ubr3	G	A	2: 69,956,093	M850I	probably benign	Het
Vmn2r78	A	T	7: 86,921,191	M306L	probably benign	Het
Vmn2r9	T	G	5: 108,847,685	M366L	probably benign	Het
Zan	C	G	5: 137,383,834	M5150I	unknown	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
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
R6269:Chil4	UTSW	3	106204171	missense	probably damaging	1.00
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'- GGAGAGATTTAAACCTTTTAGGACC -3'
(R):5'- ATATTTTGGGATGCATCCTCTGAG -3'

Sequencing Primer
(F):5'- GGACCAAAGAATTTTTCCAATTGAC -3'
(R):5'- TTCTCCAGAACAGACGGTTG -3'

Posted On

2015-08-18