Mutagenetix > Incidental Mutation

Incidental Mutation 'R9300:Chil4'

704838

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 #

R9300 (G1)

Quality Score

207.009

Status

Not validated

Chromosome

Chromosomal Location

106201490-106219507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106202558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 380 (T380A)

Ref Sequence

ENSEMBL: ENSMUSP00000080851 (fasta)

Gene Model

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

AlphaFold

Q91Z98

Predicted Effect

probably benign
Transcript: ENSMUST00000082219
AA Change: T380A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: T380A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Acad8	A	T	9: 26,977,632	H371Q	probably damaging	Het
Actn3	G	T	19: 4,871,628	R175S	probably benign	Het
Adamts9	G	T	6: 92,887,390	D780E	probably benign	Het
AK157302	C	A	13: 21,495,367	T21K	probably benign	Het
Ank3	A	T	10: 69,871,042	H329L	unknown	Het
Ankrd36	A	G	11: 5,569,979	H18R	possibly damaging	Het
Anks1b	T	A	10: 90,577,104	V38D	possibly damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Arid1b	C	A	17: 5,242,999	P731T	probably damaging	Het
Atp1a4	A	G	1: 172,239,831	F578S	probably damaging	Het
Atp6v0a2	A	T	5: 124,712,248	I360F	probably damaging	Het
Bcas3	A	T	11: 85,557,358	I600F	probably damaging	Het
C1qtnf7	T	G	5: 43,609,099	C20W	possibly damaging	Het
Cadm1	A	T	9: 47,797,523	K184*	probably null	Het
Ccdc138	A	T	10: 58,507,626	H101L	probably benign	Het
Cep120	T	A	18: 53,719,297	N503I	probably damaging	Het
Clip2	A	G	5: 134,498,088		probably null	Het
Cyhr1	C	A	15: 76,646,341	V260L	probably benign	Het
Cyp3a11	G	A	5: 145,862,354	P341L	possibly damaging	Het
Cyp3a41a	G	C	5: 145,720,096		probably benign	Het
Dcaf1	A	G	9: 106,847,843	I509M	possibly damaging	Het
Dcaf13	T	C	15: 39,146,707	S429P	probably damaging	Het
Eln	A	G	5: 134,729,366	V151A	unknown	Het
Endou	T	G	15: 97,713,073	M377L	probably benign	Het
Etfa	A	G	9: 55,488,868	I138T	probably damaging	Het
Fbxw10	T	A	11: 62,877,283	S982T	probably benign	Het
Gm9602	A	T	14: 4,777,288	R47*	probably null	Het
Hectd4	G	A	5: 121,348,889	V3316I	probably benign	Het
Hif1a	T	C	12: 73,940,528	L477S	probably benign	Het
Icam5	G	C	9: 21,035,550	G458A	probably benign	Het
Itm2b	A	T	14: 73,366,456	D106E	probably benign	Het
Kdelc1	A	G	1: 44,117,202	I75T	possibly damaging	Het
Kdm4d	G	A	9: 14,464,040	T174M	probably damaging	Het
Kif16b	G	T	2: 142,699,287	D1364E	probably benign	Het
Lbhd1	G	A	19: 8,884,186	V61M	probably damaging	Het
Lclat1	T	A	17: 73,239,924	S279T	probably benign	Het
Lhx4	G	A	1: 155,705,210	L190F	probably damaging	Het
Lima1	C	T	15: 99,806,439	S283N	probably benign	Het
Magi1	C	A	6: 93,747,228	D496Y	probably damaging	Het
Map1a	T	C	2: 121,302,965	S1421P	probably damaging	Het
Map3k20	C	T	2: 72,371,913	H163Y	probably damaging	Het
Mier3	T	G	13: 111,686,356		probably null	Het
Mllt3	G	A	4: 87,774,047	Q560*	probably null	Het
Mmp25	T	A	17: 23,632,754	D327V	probably benign	Het
Nckap5	G	A	1: 125,981,686	Q1603*	probably null	Het
Nell1	G	A	7: 50,062,620	V63I	probably benign	Het
Olfr119	C	T	17: 37,700,924	P85S	probably damaging	Het
Olfr151	A	C	9: 37,730,282	S234A	probably benign	Het
Olfr701	A	T	7: 106,818,904	I274F	probably benign	Het
Pde12	C	T	14: 26,665,776	E526K	probably damaging	Het
Pfn4	T	C	12: 4,775,442	V93A	possibly damaging	Het
Ppp2r3d	A	G	9: 124,423,977	S60P	unknown	Het
Prelp	T	C	1: 133,914,519	H296R	probably damaging	Het
Prickle1	T	C	15: 93,500,868	E693G	possibly damaging	Het
Rars	A	G	11: 35,815,661	L477P	probably damaging	Het
Rasal1	G	A	5: 120,664,107	R328H	probably damaging	Het
Rasef	A	G	4: 73,741,156	F220S	probably benign	Het
Rif1	C	T	2: 52,111,139	S1535L	probably damaging	Het
Rnf17	T	C	14: 56,460,038	I463T	possibly damaging	Het
Ryr3	A	T	2: 112,860,350	D1138E	probably benign	Het
Scn9a	T	A	2: 66,504,892	Y1251F	probably benign	Het
Sdk2	A	G	11: 113,825,030	W1568R	possibly damaging	Het
Senp6	A	G	9: 80,142,151	E1019G	probably damaging	Het
Shh	A	G	5: 28,458,463	Y236H	probably damaging	Het
Sin3a	A	G	9: 57,107,460	D655G	probably damaging	Het
Slc35a4	C	T	18: 36,682,221	P35S	probably damaging	Het
Slc35g1	T	C	19: 38,396,185	L24P	probably benign	Het
Slc39a4	G	T	15: 76,614,559	Q312K	probably damaging	Het
Slc6a5	A	T	7: 49,951,427	I659F	probably damaging	Het
Slc7a4	T	C	16: 17,574,535	Y345C	probably benign	Het
Slco6c1	G	T	1: 97,066,084	R645S	probably benign	Het
Soat1	T	C	1: 156,441,353	Y209C	probably benign	Het
Tbc1d9b	T	C	11: 50,163,887	S953P	probably benign	Het
Tgm1	G	A	14: 55,704,846	H683Y	probably benign	Het
Tmem98	G	A	11: 80,817,606	R134Q	probably damaging	Het
Trpm3	A	C	19: 22,978,381	M1107L	possibly damaging	Het
Vmn1r11	G	A	6: 57,137,887	V179I	probably benign	Het
Vmn1r119	G	T	7: 21,011,713	T248K	probably damaging	Het
Vmn1r236	T	A	17: 21,286,683	I21N	possibly damaging	Het
Vmn2r24	A	G	6: 123,816,071	T786A	possibly damaging	Het
Vstm5	A	T	9: 15,257,289	I50F	probably damaging	Het
Wdr1	T	C	5: 38,527,912	D572G	probably damaging	Het
Xaf1	T	C	11: 72,301,691	F5S	probably benign	Het
Zan	A	T	5: 137,470,257		probably null	Het
Zfp697	T	C	3: 98,427,663	V248A	possibly damaging	Het
Zkscan3	T	A	13: 21,393,497	T249S	unknown	Het
Znfx1	A	G	2: 167,055,940	Y355H	probably damaging	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
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
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'- CACATCAAGGTATCCCTGGTTC -3'
(R):5'- CTGAATGTGCTGAGATTGCAG -3'

Sequencing Primer
(F):5'- CCTGGTTCCTAATAAGTGTGCAAC -3'
(R):5'- TGAGATTGCAGCCTGATTCCCAG -3'

Posted On

2022-03-25