Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Chmp6'

153372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chmp6

Ensembl Gene

ENSMUSG00000025371

Gene Name

charged multivesicular body protein 6

Synonyms

2400004G01Rik, chromatin modifying protein 6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

119804267-119810374 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119807812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 72 (E72K)

Ref Sequence

ENSEMBL: ENSMUSP00000114645 (fasta)

Gene Model

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

AlphaFold

P0C0A3

Predicted Effect

probably benign
Transcript: ENSMUST00000026434
AA Change: E158K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026434
Gene: ENSMUSG00000025371
AA Change: E158K

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
AA Change: E72K

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114645
Gene: ENSMUSG00000025371
AA Change: E72K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139814

Predicted Effect

probably benign
Transcript: ENSMUST00000148232

Coding Region Coverage

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980 (GRCm39)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Cldn23	T	C	8: 36,292,816 (GRCm39)	Y224C	probably damaging	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,096,200 (GRCm39)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,658,257 (GRCm39)	Y272*	probably null	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Treml2	T	C	17: 48,609,838 (GRCm39)	V90A	probably benign	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	probably damaging	Het

Other mutations in Chmp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7490:Chmp6	UTSW	11	119,806,269 (GRCm39)	nonsense	probably null
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

Posted On

2014-02-04