Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:Chmp6'

580695

Institutional Source

Beutler Lab

Gene Symbol

Chmp6

Ensembl Gene

ENSMUSG00000025371

Gene Name

charged multivesicular body protein 6

Synonyms

2400004G01Rik, chromatin modifying protein 6

MMRRC Submission

045564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7490 (G1)

Quality Score

154.008

Status

Not validated

Chromosome

Chromosomal Location

119804267-119810374 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 119806269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 32 (Q32*)

Ref Sequence

ENSEMBL: ENSMUSP00000026434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026434] [ENSMUST00000124199] [ENSMUST00000132197] [ENSMUST00000148232]

AlphaFold

P0C0A3

Predicted Effect

probably null
Transcript: ENSMUST00000026434
AA Change: Q32*

SMART Domains

Protein: ENSMUSP00000026434
Gene: ENSMUSG00000025371
AA Change: Q32*

Domain	Start	End	E-Value	Type
Pfam:Snf7	18	178	2.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124199

Predicted Effect

probably benign
Transcript: ENSMUST00000132197

SMART Domains

Protein: ENSMUSP00000114645
Gene: ENSMUSG00000025371

Domain	Start	End	E-Value	Type
Pfam:Snf7	1	78	5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148232

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,202,389 (GRCm39)	D132G	possibly damaging	Het
Abca5	T	C	11: 110,168,437 (GRCm39)	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,084,169 (GRCm39)	Q549*	probably null	Het
Adcy4	A	G	14: 56,007,890 (GRCm39)	I893T	possibly damaging	Het
Ago1	A	T	4: 126,333,298 (GRCm39)	*858R	probably null	Het
Ank2	T	A	3: 126,752,538 (GRCm39)	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,687,459 (GRCm39)	T987A	probably benign	Het
Ap2a1	G	T	7: 44,552,213 (GRCm39)	N790K	probably benign	Het
Aqr	A	G	2: 113,989,349 (GRCm39)		probably null	Het
Arel1	G	T	12: 84,988,685 (GRCm39)	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,686,895 (GRCm39)	D743G	probably damaging	Het
Atp9a	A	T	2: 168,517,272 (GRCm39)	F354I	probably benign	Het
Bag6	A	G	17: 35,359,818 (GRCm39)	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,795,498 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,795,478 (GRCm39)		probably benign	Het
Bckdk	T	A	7: 127,504,145 (GRCm39)	S15T	unknown	Het
C4b	G	T	17: 34,950,054 (GRCm39)	Y1405*	probably null	Het
Camk4	G	A	18: 33,072,598 (GRCm39)		probably null	Het
Car11	T	A	7: 45,349,742 (GRCm39)	W16R	probably benign	Het
Ccdc80	A	C	16: 44,916,763 (GRCm39)	E506D	probably damaging	Het
Colq	G	A	14: 31,267,043 (GRCm39)	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,610,357 (GRCm39)	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,934,516 (GRCm39)	I93L	unknown	Het
Dnaaf2	T	C	12: 69,244,380 (GRCm39)	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,204 (GRCm39)	G792D	probably damaging	Het
Dsg4	T	A	18: 20,584,993 (GRCm39)		probably null	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Fbxl13	T	A	5: 21,728,058 (GRCm39)	R550*	probably null	Het
Gm4302	A	T	10: 100,177,445 (GRCm39)	Q243L	unknown	Het
Gm7168	A	T	17: 14,169,275 (GRCm39)	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,246,663 (GRCm39)	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,461,153 (GRCm39)	D320E	probably damaging	Het
Hivep1	T	A	13: 42,311,126 (GRCm39)	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,600,987 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,264,985 (GRCm39)	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,707,373 (GRCm39)	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,828,492 (GRCm39)	D318G	probably null	Het
L3mbtl3	C	T	10: 26,215,129 (GRCm39)	V194I	unknown	Het
Malt1	C	A	18: 65,581,282 (GRCm39)	Q237K	probably benign	Het
Marchf11	C	T	15: 26,311,187 (GRCm39)	A221V	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,524 (GRCm39)	I361M	possibly damaging	Het
Nrg1	G	A	8: 32,308,682 (GRCm39)	R493C	probably damaging	Het
Oga	G	A	19: 45,755,886 (GRCm39)	R586*	probably null	Het
Or10g9b	T	A	9: 39,917,720 (GRCm39)	H175L	probably damaging	Het
Or2f1	T	C	6: 42,721,739 (GRCm39)	I256T	probably damaging	Het
Or4c107	A	C	2: 88,789,392 (GRCm39)	Y194S	probably benign	Het
Or51g2	G	A	7: 102,623,017 (GRCm39)	P61S	probably damaging	Het
Or5ar1	A	T	2: 85,671,307 (GRCm39)	V276E	probably damaging	Het
Or7g16	A	T	9: 18,727,229 (GRCm39)	Y120*	probably null	Het
Orai3	C	T	7: 127,372,799 (GRCm39)	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066 (GRCm38)	M328L	probably benign	Het
Pan2	T	C	10: 128,144,309 (GRCm39)	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,866,265 (GRCm39)	D980V		Het
Ppp1r16b	T	C	2: 158,603,388 (GRCm39)	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,386,504 (GRCm39)	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,536,753 (GRCm39)	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,448,175 (GRCm39)	N494S	possibly damaging	Het
Rpl18a	T	C	8: 71,348,150 (GRCm39)	D147G	probably benign	Het
Scg3	T	C	9: 75,576,559 (GRCm39)	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 34,077,818 (GRCm39)	D184V	probably benign	Het
Simc1	T	G	13: 54,672,162 (GRCm39)	L170R	possibly damaging	Het
Slx4	T	C	16: 3,797,995 (GRCm39)	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,416,166 (GRCm39)		probably null	Het
Tas1r3	A	G	4: 155,946,480 (GRCm39)	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,401,494 (GRCm39)	D405G	probably damaging	Het
Tcerg1l	G	A	7: 137,861,557 (GRCm39)	P391S	probably damaging	Het
Tiam1	T	C	16: 89,695,083 (GRCm39)	S125G	probably benign	Het
Trim16	C	A	11: 62,724,949 (GRCm39)	H246N	probably damaging	Het
Tti1	T	A	2: 157,837,392 (GRCm39)	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,451,286 (GRCm39)	N395S	probably damaging	Het
Uggt1	T	C	1: 36,203,589 (GRCm39)	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,412,214 (GRCm39)	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,209,053 (GRCm39)	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,840,078 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,331,756 (GRCm39)	S536T	unknown	Het

Other mutations in Chmp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Chmp6	APN	11	119,807,812 (GRCm39)	missense	probably benign	0.19
IGL03405:Chmp6	APN	11	119,806,273 (GRCm39)	missense	probably damaging	1.00
R0035:Chmp6	UTSW	11	119,807,508 (GRCm39)	missense	probably damaging	0.99
R0164:Chmp6	UTSW	11	119,806,349 (GRCm39)	critical splice donor site	probably null
R0164:Chmp6	UTSW	11	119,806,349 (GRCm39)	critical splice donor site	probably null
R0345:Chmp6	UTSW	11	119,808,872 (GRCm39)	unclassified	probably benign
R1528:Chmp6	UTSW	11	119,807,541 (GRCm39)	missense	probably benign	0.04
R2187:Chmp6	UTSW	11	119,807,562 (GRCm39)	missense	possibly damaging	0.95
R5026:Chmp6	UTSW	11	119,809,469 (GRCm39)	missense	probably damaging	0.98
R5799:Chmp6	UTSW	11	119,807,517 (GRCm39)	missense	probably benign	0.41
R7059:Chmp6	UTSW	11	119,806,866 (GRCm39)	missense	probably damaging	0.98
R7486:Chmp6	UTSW	11	119,807,783 (GRCm39)	missense	probably benign	0.38
R7862:Chmp6	UTSW	11	119,807,836 (GRCm39)	critical splice donor site	probably null
R7908:Chmp6	UTSW	11	119,804,656 (GRCm39)	unclassified	probably benign
R9390:Chmp6	UTSW	11	119,806,288 (GRCm39)	missense	possibly damaging	0.46
R9677:Chmp6	UTSW	11	119,806,459 (GRCm39)	nonsense	probably null
X0025:Chmp6	UTSW	11	119,806,942 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGCATTGTAAGGCTGGGG -3'
(R):5'- ACCTCTTCTTCTTGAGCAGCAG -3'

Sequencing Primer
(F):5'- GATGTTTCTGGATGTTGCTCCATATC -3'
(R):5'- AGCAGCTTGGCTCGTCTG -3'

Posted On

2019-10-17