Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Chil4'

454508

Institutional Source

Beutler Lab

Gene Symbol

Chil4

Ensembl Gene

ENSMUSG00000063779

Gene Name

chitinase-like 4

Synonyms

Ym2, Chi3l4

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5883 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

106201490-106219507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106210570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 128 (R128H)

Ref Sequence

ENSEMBL: ENSMUSP00000080851 (fasta)

Gene Model

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

AlphaFold

Q91Z98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082219
AA Change: R128H

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: R128H

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

0.0877

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,145,641	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,994	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256	I168V	possibly damaging	Het
Ambn	T	A	5: 88,467,829	Y372*	probably null	Het
Ano3	T	A	2: 110,880,864	E85V	probably null	Het
Bmf	C	T	2: 118,546,966		silent	Het
Bmper	T	A	9: 23,406,674	S530T	probably benign	Het
Bop1	T	C	15: 76,454,849	D383G	probably damaging	Het
Bub1b	T	A	2: 118,609,882	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,376,922	V1987A	probably benign	Het
Cd84	T	C	1: 171,872,838	V174A	possibly damaging	Het
Cep290	T	A	10: 100,523,399	L997Q	probably benign	Het
Cpne3	A	T	4: 19,552,314	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,966,916	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,517,013		probably benign	Het
Dnhd1	C	A	7: 105,720,504	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,498,757		probably benign	Het
Gm6264	G	A	1: 85,171,182		probably benign	Het
Has2	T	A	15: 56,668,063	I419F	possibly damaging	Het
Hscb	A	G	5: 110,839,578	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,359,563	S4G	probably benign	Het
Islr2	G	T	9: 58,198,715	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,581,994	I156V	possibly damaging	Het
Klk1b24	A	G	7: 44,190,363	I49V	probably benign	Het
Krt90	C	T	15: 101,553,219		probably benign	Het
Larp1	C	T	11: 58,042,299	S243F	probably damaging	Het
Lrp4	T	C	2: 91,488,433	Y872H	probably benign	Het
Maip1	T	C	1: 57,407,101	M110T	probably damaging	Het
March7	G	A	2: 60,234,442	R354Q	probably damaging	Het
Med12l	G	T	3: 59,091,468	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,216,256		probably null	Het
Olfr209	A	T	16: 59,361,715	C168S	probably damaging	Het
Olfr490	C	T	7: 108,286,244	S294N	probably damaging	Het
Olfr531	T	A	7: 140,400,188	Y286F	probably damaging	Het
Pdzd9	T	A	7: 120,668,553	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,707,810	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,715,914	Q1539K	probably benign	Het
Rad54l	C	G	4: 116,099,046		probably benign	Het
Ric1	T	A	19: 29,595,989	I943N	probably damaging	Het
Rif1	T	A	2: 52,105,639		probably null	Het
Rpl12	T	C	2: 32,962,524		probably benign	Het
Ryr3	T	C	2: 113,030,292		probably benign	Het
Scarb1	C	A	5: 125,340,907		probably benign	Het
Sox10	T	C	15: 79,156,263	E359G	probably damaging	Het
Taf5	A	G	19: 47,067,789	T9A	unknown	Het
Tmem128	C	T	5: 38,266,541	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444	V453G	probably benign	Het
Ubxn4	T	A	1: 128,256,130	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,523,524	Y483F	probably benign	Het
Xkr5	A	G	8: 18,940,790	S154P	probably damaging	Het
Zfp687	T	C	3: 95,012,044	N139S	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
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'- CACAAACAGTGCTGAGATTCTAC -3'
(R):5'- TTCTCCAGAACAGACGGTTG -3'

Sequencing Primer
(F):5'- CAGTGCTGAGATTCTACAATTCTG -3'
(R):5'- CAGAACAGACGGTTGTTATATTTTGC -3'

Posted On

2017-02-10