Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Chmp3'

313232

Institutional Source

Beutler Lab

Gene Symbol

Chmp3

Ensembl Gene

ENSMUSG00000053119

Gene Name

charged multivesicular body protein 3

Synonyms

9130011K15Rik, 4921505F14Rik, D6Ertd286e, 25.1, Vps24, CGI-49

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71520820-71559593 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 71551222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059462] [ENSMUST00000065364] [ENSMUST00000204199] [ENSMUST00000204535]

AlphaFold

Q9CQ10

Predicted Effect

probably null
Transcript: ENSMUST00000059462

SMART Domains

Protein: ENSMUSP00000109815
Gene: ENSMUSG00000053119

Domain	Start	End	E-Value	Type
Pfam:Snf7	18	188	7.6e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000065364

SMART Domains

Protein: ENSMUSP00000068410
Gene: ENSMUSG00000053119

Domain	Start	End	E-Value	Type
Pfam:Snf7	18	190	4.7e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142169

Predicted Effect

probably null
Transcript: ENSMUST00000204199

SMART Domains

Protein: ENSMUSP00000144867
Gene: ENSMUSG00000053119

Domain	Start	End	E-Value	Type
Pfam:Snf7	35	96	1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204535

SMART Domains

Protein: ENSMUSP00000145223
Gene: ENSMUSG00000053119

Domain	Start	End	E-Value	Type
Pfam:Snf7	1	60	1.3e-11	PFAM

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,685,148 (GRCm39)	L102P	probably benign	Het
Adcy4	C	T	14: 56,012,635 (GRCm39)		probably null	Het
Adgrf5	A	T	17: 43,741,605 (GRCm39)		probably benign	Het
Atp11a	A	G	8: 12,892,938 (GRCm39)	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,391,257 (GRCm39)	T428M	probably damaging	Het
Cdh22	T	C	2: 164,985,593 (GRCm39)	D331G	possibly damaging	Het
Csnk2a1	C	T	2: 152,100,609 (GRCm39)	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,023,878 (GRCm39)		probably null	Het
Ddias	G	T	7: 92,510,686 (GRCm39)	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,688,196 (GRCm39)	D238G	probably damaging	Het
Dock7	T	C	4: 98,892,157 (GRCm39)		probably null	Het
Dock9	T	C	14: 121,864,324 (GRCm39)	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Fam107b	G	A	2: 3,779,511 (GRCm39)	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,839,680 (GRCm39)	T2188S	possibly damaging	Het
Farsa	A	G	8: 85,595,499 (GRCm39)	T465A	probably damaging	Het
Fibp	T	C	19: 5,510,762 (GRCm39)		probably null	Het
Flywch2	G	A	17: 23,996,013 (GRCm39)	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,012,259 (GRCm39)	D49V	probably damaging	Het
Fstl5	A	G	3: 76,536,282 (GRCm39)	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435 (GRCm39)	T158I	probably damaging	Het
Gbp4	T	A	5: 105,268,789 (GRCm39)	R455W	probably damaging	Het
Got2	T	G	8: 96,604,381 (GRCm39)	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470 (GRCm39)	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,556 (GRCm39)	M186V	probably benign	Het
Haus2	A	T	2: 120,446,411 (GRCm39)	Q111L	probably damaging	Het
Hexd	T	C	11: 121,108,987 (GRCm39)		probably null	Het
Igf2r	T	A	17: 12,967,638 (GRCm39)	N27I	probably damaging	Het
Itgax	T	A	7: 127,732,311 (GRCm39)		probably null	Het
Krit1	T	A	5: 3,882,132 (GRCm39)	I596K	probably benign	Het
Lair1	A	G	7: 4,058,915 (GRCm39)		probably null	Het
Lilra6	G	T	7: 3,914,417 (GRCm39)	T276K	probably benign	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,096,871 (GRCm39)	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,954,582 (GRCm39)	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,892,488 (GRCm39)	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,389,593 (GRCm39)	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,764,331 (GRCm39)	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,328,011 (GRCm39)	F681L	probably benign	Het
Or2ag19	T	A	7: 106,444,226 (GRCm39)	M136K	probably damaging	Het
Or5l14	T	A	2: 87,793,066 (GRCm39)	T57S	possibly damaging	Het
Pear1	T	C	3: 87,663,529 (GRCm39)	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Rnf17	C	T	14: 56,697,458 (GRCm39)	H451Y	probably damaging	Het
Sag	A	T	1: 87,749,027 (GRCm39)		probably null	Het
Septin4	A	G	11: 87,458,106 (GRCm39)	E160G	probably damaging	Het
Slc22a2	T	C	17: 12,803,376 (GRCm39)	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Spag17	A	T	3: 99,956,546 (GRCm39)	I881F	probably benign	Het
Taar7a	G	T	10: 23,869,284 (GRCm39)	N32K	probably benign	Het
Tbck	C	A	3: 132,432,895 (GRCm39)	T435K	probably damaging	Het
Tril	T	G	6: 53,796,004 (GRCm39)	D406A	probably damaging	Het
Tshz2	G	A	2: 169,727,782 (GRCm39)	D324N	probably damaging	Het
Vps13d	A	G	4: 144,801,631 (GRCm39)	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,452,405 (GRCm39)	W493R	probably damaging	Het
Wdr72	G	A	9: 74,058,875 (GRCm39)	V323I	probably benign	Het
Zfp488	T	A	14: 33,693,110 (GRCm39)	M18L	probably benign	Het
Zic4	A	G	9: 91,261,089 (GRCm39)	T108A	probably benign	Het
Znrf3	T	C	11: 5,231,278 (GRCm39)	D745G	possibly damaging	Het

Other mutations in Chmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02649:Chmp3	APN	6	71,529,417 (GRCm39)	missense	possibly damaging	0.68
R0497:Chmp3	UTSW	6	71,529,395 (GRCm39)	missense	probably damaging	0.97
R1558:Chmp3	UTSW	6	71,537,954 (GRCm39)	nonsense	probably null
R1778:Chmp3	UTSW	6	71,554,791 (GRCm39)	missense	probably benign	0.04
R1829:Chmp3	UTSW	6	71,537,923 (GRCm39)	missense	probably benign	0.01
R3619:Chmp3	UTSW	6	71,554,809 (GRCm39)	missense	probably damaging	1.00
R7469:Chmp3	UTSW	6	71,556,652 (GRCm39)	missense	possibly damaging	0.61
R7819:Chmp3	UTSW	6	71,538,008 (GRCm39)	nonsense	probably null
R8112:Chmp3	UTSW	6	71,538,012 (GRCm39)	missense	probably benign	0.00
Z1176:Chmp3	UTSW	6	71,556,759 (GRCm39)	missense	probably damaging	1.00
Z1176:Chmp3	UTSW	6	71,537,948 (GRCm39)	missense	probably benign
Z1177:Chmp3	UTSW	6	71,520,788 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGAGCTCTCTCATTCTGTG -3'
(R):5'- CATTGCGAGATGTTCCCTGTC -3'

Sequencing Primer
(F):5'- GGAGCTCTCTCATTCTGTGCTGTC -3'
(R):5'- CCTGTCTGGAGATCTAGGCATTC -3'

Posted On

2015-04-30