Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Chil4'

170064

Institutional Source

Beutler Lab

Gene Symbol

Chil4

Ensembl Gene

ENSMUSG00000063779

Gene Name

chitinase-like 4

Synonyms

Chi3l4, Ym2

MMRRC Submission

039592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1553 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

106108807-106126795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106111006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 296 (N296T)

Ref Sequence

ENSEMBL: ENSMUSP00000080851 (fasta)

Gene Model

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

AlphaFold

Q91Z98

Predicted Effect

probably benign
Transcript: ENSMUST00000082219
AA Change: N296T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: N296T

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,613,748 (GRCm39)	A649S	probably damaging	Het
Adam6a	T	A	12: 113,508,835 (GRCm39)	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,766,896 (GRCm39)	F417S	possibly damaging	Het
Ago1	T	C	4: 126,334,194 (GRCm39)	E439G	probably damaging	Het
Alox15	A	G	11: 70,240,458 (GRCm39)	V241A	possibly damaging	Het
Arhgap6	A	G	X: 168,048,480 (GRCm39)	H566R	probably damaging	Het
Asap1	A	T	15: 64,024,701 (GRCm39)	F345I	probably benign	Het
Atp1b2	A	G	11: 69,493,678 (GRCm39)	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,368,376 (GRCm39)	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656 (GRCm39)	S115C	probably damaging	Het
Ccdc68	A	T	18: 70,073,192 (GRCm39)	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,540 (GRCm39)	N560I	probably benign	Het
Cdhr3	T	C	12: 33,092,370 (GRCm39)	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,194,171 (GRCm39)	N378T	probably damaging	Het
Cryaa	G	A	17: 31,898,533 (GRCm39)	V87I	probably damaging	Het
Csk	G	A	9: 57,538,225 (GRCm39)	L28F	probably damaging	Het
Cspp1	A	G	1: 10,156,122 (GRCm39)	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,363,794 (GRCm39)	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,480,448 (GRCm39)	D563V	probably damaging	Het
Fam111a	A	T	19: 12,564,682 (GRCm39)	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,060,951 (GRCm39)	S1145R	probably damaging	Het
Fpr2	T	A	17: 18,113,856 (GRCm39)	V284D	possibly damaging	Het
Furin	A	G	7: 80,048,340 (GRCm39)		probably null	Het
Gatd1	T	C	7: 140,989,806 (GRCm39)	T135A	probably benign	Het
Gdf3	A	G	6: 122,586,724 (GRCm39)	S68P	probably benign	Het
Gm6871	T	C	7: 41,195,822 (GRCm39)	H305R	probably benign	Het
Grip1	A	G	10: 119,890,756 (GRCm39)	S917G	probably damaging	Het
Hdac10	T	A	15: 89,009,718 (GRCm39)	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,820,661 (GRCm39)	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,487,322 (GRCm39)	D3439G	probably benign	Het
Kcna4	T	C	2: 107,127,032 (GRCm39)	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,192,462 (GRCm39)	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,790,397 (GRCm39)	I453T	probably damaging	Het
Kifc3	A	G	8: 95,833,170 (GRCm39)	I440T	possibly damaging	Het
Krt10	C	A	11: 99,276,806 (GRCm39)	G40*	probably null	Het
Lce1i	A	T	3: 92,685,102 (GRCm39)	C25S	unknown	Het
Met	A	G	6: 17,491,460 (GRCm39)	N74S	probably benign	Het
Naa35	G	A	13: 59,766,093 (GRCm39)		probably null	Het
Naalad2	T	C	9: 18,289,965 (GRCm39)	N221S	probably benign	Het
Nolc1	AGCG	AGCGGCG	19: 46,069,814 (GRCm39)		probably benign	Het
Nsmf	T	C	2: 24,950,271 (GRCm39)	V181A	probably damaging	Het
Nwd2	T	A	5: 63,957,848 (GRCm39)	S393T	probably benign	Het
Or12j3	T	A	7: 139,952,951 (GRCm39)	T191S	probably damaging	Het
Or2d3c	A	T	7: 106,526,201 (GRCm39)	V155E	possibly damaging	Het
Or51a6	T	A	7: 102,604,425 (GRCm39)	I128L	possibly damaging	Het
Papola	T	A	12: 105,786,669 (GRCm39)	S453R	probably benign	Het
Paqr9	A	G	9: 95,442,262 (GRCm39)	N84S	probably damaging	Het
Pde5a	T	C	3: 122,572,585 (GRCm39)	V290A	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Psg18	T	C	7: 18,087,406 (GRCm39)	Y84C	probably benign	Het
Rasgrf2	C	T	13: 92,038,783 (GRCm39)	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,354,522 (GRCm39)	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,269,343 (GRCm39)	E1643G	probably benign	Het
Scg3	T	A	9: 75,576,586 (GRCm39)	E263V	probably null	Het
Scn2a	C	T	2: 65,544,180 (GRCm39)	R854*	probably null	Het
Setdb2	T	C	14: 59,654,934 (GRCm39)	K319E	probably benign	Het
Stub1	A	T	17: 26,051,097 (GRCm39)	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,032,471 (GRCm39)	N96Y	probably damaging	Het
Tecta	T	A	9: 42,259,482 (GRCm39)	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,689,456 (GRCm39)	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,744,770 (GRCm39)	M438L	probably benign	Het
Tmem179	T	C	12: 112,471,094 (GRCm39)	Y106C	probably benign	Het
Tspan7	A	G	X: 10,451,854 (GRCm39)	H187R	probably benign	Het
Ttn	T	C	2: 76,757,619 (GRCm39)	D3332G	probably damaging	Het
Upp2	T	C	2: 58,680,152 (GRCm39)	F326S	probably damaging	Het
Usp2	T	A	9: 44,003,452 (GRCm39)	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,962,483 (GRCm39)	F53I	probably benign	Het
Wapl	T	A	14: 34,451,147 (GRCm39)	L727H	probably damaging	Het
Wipf1	T	C	2: 73,267,870 (GRCm39)	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 52,994,769 (GRCm39)	D243E	probably benign	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,334,535 (GRCm39)	P161L	probably benign	Het

Other mutations in Chil4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Chil4	APN	3	106,109,113 (GRCm39)	missense	probably benign
IGL02457:Chil4	APN	3	106,121,715 (GRCm39)	missense	probably benign
R1087:Chil4	UTSW	3	106,117,881 (GRCm39)	missense	probably benign	0.01
R1398:Chil4	UTSW	3	106,126,825 (GRCm39)	splice site	probably null
R1503:Chil4	UTSW	3	106,113,350 (GRCm39)	missense	probably benign
R1806:Chil4	UTSW	3	106,117,959 (GRCm39)	splice site	probably benign
R1873:Chil4	UTSW	3	106,113,414 (GRCm39)	missense	probably benign	0.00
R2069:Chil4	UTSW	3	106,126,771 (GRCm39)	missense	probably benign	0.16
R2100:Chil4	UTSW	3	106,121,663 (GRCm39)	missense	probably benign
R2370:Chil4	UTSW	3	106,121,616 (GRCm39)	nonsense	probably null
R2984:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R2985:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R3522:Chil4	UTSW	3	106,111,056 (GRCm39)	missense	probably benign	0.08
R3919:Chil4	UTSW	3	106,109,848 (GRCm39)	missense	probably benign	0.00
R4033:Chil4	UTSW	3	106,121,765 (GRCm39)	missense	probably damaging	1.00
R4181:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R4184:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R4301:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R4347:Chil4	UTSW	3	106,110,144 (GRCm39)	missense	probably benign
R4391:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R4395:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R4418:Chil4	UTSW	3	106,111,043 (GRCm39)	missense	possibly damaging	0.95
R4483:Chil4	UTSW	3	106,121,678 (GRCm39)	missense	probably damaging	1.00
R4544:Chil4	UTSW	3	106,117,922 (GRCm39)	missense	probably damaging	0.97
R4887:Chil4	UTSW	3	106,111,460 (GRCm39)	missense	probably benign	0.01
R4949:Chil4	UTSW	3	106,113,408 (GRCm39)	missense	possibly damaging	0.83
R5076:Chil4	UTSW	3	106,109,913 (GRCm39)	missense	probably damaging	1.00
R5146:Chil4	UTSW	3	106,110,150 (GRCm39)	missense	probably benign	0.18
R5254:Chil4	UTSW	3	106,126,768 (GRCm39)	missense	probably benign	0.00
R5521:Chil4	UTSW	3	106,111,013 (GRCm39)	missense	possibly damaging	0.50
R5790:Chil4	UTSW	3	106,109,894 (GRCm39)	missense	probably benign	0.00
R5883:Chil4	UTSW	3	106,117,886 (GRCm39)	missense	possibly damaging	0.48
R6010:Chil4	UTSW	3	106,121,711 (GRCm39)	missense	probably damaging	1.00
R6257:Chil4	UTSW	3	106,111,412 (GRCm39)	missense	possibly damaging	0.84
R6269:Chil4	UTSW	3	106,111,487 (GRCm39)	missense	probably damaging	1.00
R6602:Chil4	UTSW	3	106,117,906 (GRCm39)	missense	probably benign	0.00
R7113:Chil4	UTSW	3	106,121,664 (GRCm39)	missense	probably benign
R7113:Chil4	UTSW	3	106,110,083 (GRCm39)	missense	probably damaging	1.00
R7188:Chil4	UTSW	3	106,111,475 (GRCm39)	missense	probably damaging	1.00
R7980:Chil4	UTSW	3	106,110,060 (GRCm39)	missense	probably damaging	1.00
R8810:Chil4	UTSW	3	106,109,121 (GRCm39)	missense	probably damaging	0.99
R9300:Chil4	UTSW	3	106,109,874 (GRCm39)	missense	probably benign	0.10
R9307:Chil4	UTSW	3	106,111,382 (GRCm39)	critical splice donor site	probably null
R9529:Chil4	UTSW	3	106,118,656 (GRCm39)	missense	probably damaging	1.00
X0067:Chil4	UTSW	3	106,113,350 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGGATGATACTTATATCCCAGCCTCCT -3'
(R):5'- ACACAGGTTACCAGAGGTTCTAGCA -3'

Sequencing Primer
(F):5'- AAATGATCACATGTTGCCCTC -3'
(R):5'- CCAGAGGTTCTAGCAAAAAATTTAC -3'

Posted On

2014-04-13