Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Chmp1a'

365492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chmp1a

Ensembl Gene

ENSMUSG00000000743

Gene Name

charged multivesicular body protein 1A

Synonyms

Pcoln3, chromatin modifying protein 1A, 2900018H07Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

123931003-123939502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123934806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 50 (E50G)

Ref Sequence

ENSEMBL: ENSMUSP00000000759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000759] [ENSMUST00000060133] [ENSMUST00000127664] [ENSMUST00000212892] [ENSMUST00000212760] [ENSMUST00000212637] [ENSMUST00000212346] [ENSMUST00000212161] [ENSMUST00000212523]

AlphaFold

Q921W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000000759
AA Change: E50G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000759
Gene: ENSMUSG00000000743
AA Change: E50G

Domain	Start	End	E-Value	Type
Pfam:Snf7	4	174	6.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060133

SMART Domains

Protein: ENSMUSP00000058002
Gene: ENSMUSG00000048478

Domain	Start	End	E-Value	Type
low complexity region	4	28	N/A	INTRINSIC
Pfam:DUF4609	63	130	3.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212107

Predicted Effect

probably benign
Transcript: ENSMUST00000212892

Predicted Effect

probably benign
Transcript: ENSMUST00000212760

Predicted Effect

probably benign
Transcript: ENSMUST00000212637

Predicted Effect

probably benign
Transcript: ENSMUST00000212346

Predicted Effect

probably benign
Transcript: ENSMUST00000212161

Predicted Effect

probably benign
Transcript: ENSMUST00000212523

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 CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,242,636 (GRCm39)	I1364V	possibly damaging	Het
Adamts19	T	A	18: 59,122,037 (GRCm39)	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,342,594 (GRCm39)	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,658,303 (GRCm39)	T536S	probably damaging	Het
Capg	T	A	6: 72,539,827 (GRCm39)	I340N	probably damaging	Het
Casc3	T	A	11: 98,719,749 (GRCm39)	M567K	probably damaging	Het
Cryba1	T	C	11: 77,610,207 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,965,735 (GRCm39)	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,292,060 (GRCm39)	S1141R	probably benign	Het
Exd2	T	A	12: 80,527,302 (GRCm39)	V165D	probably damaging	Het
Fbln1	A	T	15: 85,115,663 (GRCm39)	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,143,163 (GRCm39)	K384E	probably damaging	Het
Ggt5	A	G	10: 75,439,962 (GRCm39)	I188V	probably benign	Het
Gm42742	A	T	7: 126,616,018 (GRCm39)	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542 (GRCm39)	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,499,188 (GRCm39)	S239N	possibly damaging	Het
Klf11	C	T	12: 24,705,626 (GRCm39)	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,672,098 (GRCm39)		probably benign	Het
Magea8	A	T	X: 153,769,678 (GRCm39)	C144S	probably damaging	Het
Med4	A	G	14: 73,755,361 (GRCm39)	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,555,232 (GRCm39)	F153L	probably damaging	Het
Nav3	C	A	10: 109,572,814 (GRCm39)	R1615L	probably damaging	Het
Nisch	A	G	14: 30,902,769 (GRCm39)		probably benign	Het
Nr1i3	A	T	1: 171,041,964 (GRCm39)	Y16F	probably benign	Het
Or5w1	C	A	2: 87,487,058 (GRCm39)	C69F	probably damaging	Het
Or7e169	G	A	9: 19,757,550 (GRCm39)	R122*	probably null	Het
Or7g16	A	G	9: 18,727,024 (GRCm39)	C189R	probably damaging	Het
Or8g34	A	G	9: 39,373,077 (GRCm39)	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,383,479 (GRCm39)	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,143,378 (GRCm39)	P175L	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbm20	C	A	19: 53,802,133 (GRCm39)	L214I	probably benign	Het
Rhox2f	T	C	X: 36,753,334 (GRCm39)	V24A	probably benign	Het
Scnm1	T	C	3: 95,040,348 (GRCm39)	K96E	probably benign	Het
Sec16a	A	C	2: 26,309,735 (GRCm39)	D2090E	probably benign	Het
Smg6	T	C	11: 74,821,576 (GRCm39)		probably null	Het
Snx2	T	C	18: 53,327,630 (GRCm39)	S119P	probably benign	Het
Stam	A	G	2: 14,120,779 (GRCm39)		probably benign	Het
Sult2b1	T	A	7: 45,384,698 (GRCm39)	E126V	probably benign	Het
Tor1aip1	T	C	1: 155,911,590 (GRCm39)	E131G	probably damaging	Het
Ttn	C	T	2: 76,619,040 (GRCm39)	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,135,131 (GRCm39)	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,529,922 (GRCm39)	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,718,741 (GRCm39)	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,675,474 (GRCm39)	L18Q	possibly damaging	Het
Zfp747	T	C	7: 126,973,666 (GRCm39)	E168G	probably benign	Het

Other mutations in Chmp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Chmp1a	APN	8	123,935,758 (GRCm39)	critical splice donor site	probably null
IGL01872:Chmp1a	APN	8	123,932,976 (GRCm39)	missense	probably damaging	1.00
R0288:Chmp1a	UTSW	8	123,934,745 (GRCm39)	missense	probably damaging	1.00
R2074:Chmp1a	UTSW	8	123,934,761 (GRCm39)	missense	probably damaging	0.98
R2075:Chmp1a	UTSW	8	123,934,761 (GRCm39)	missense	probably damaging	0.98
R5070:Chmp1a	UTSW	8	123,933,054 (GRCm39)	missense	probably benign	0.13
R5840:Chmp1a	UTSW	8	123,934,839 (GRCm39)	missense	probably benign	0.22
R8307:Chmp1a	UTSW	8	123,932,980 (GRCm39)	missense	probably damaging	0.98
Z1177:Chmp1a	UTSW	8	123,933,070 (GRCm39)	missense	probably benign	0.05

Posted On

2015-12-18