Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00595:Chmp1b2'

8441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chmp1b2

Ensembl Gene

ENSMUSG00000031242

Gene Name

charged multivesicular body protein 1B2

Synonyms

2610002M06Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00595

Quality Score

Status

Chromosome

Chromosomal Location

106826357-106859940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106831450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 189 (S189P)

Ref Sequence

ENSEMBL: ENSMUSP00000113588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101292] [ENSMUST00000120722]

AlphaFold

Q9CQD4

Predicted Effect

probably benign
Transcript: ENSMUST00000101292

SMART Domains

Protein: ENSMUSP00000098850
Gene: ENSMUSG00000073007

Domain	Start	End	E-Value	Type
DUF1693	9	328	6.24e-223	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120722
AA Change: S189P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113588
Gene: ENSMUSG00000031242
AA Change: S189P

Domain	Start	End	E-Value	Type
Pfam:Snf7	7	176	5.7e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191183

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	A	10: 28,849,954 (GRCm39)	R161*	probably null	Het
Adam20	T	A	8: 41,249,084 (GRCm39)	F398Y	probably benign	Het
Ano1	T	A	7: 144,192,250 (GRCm39)	I374F	probably damaging	Het
Apol10a	A	T	15: 77,369,135 (GRCm39)	N45Y	probably null	Het
Asnsd1	A	G	1: 53,386,647 (GRCm39)	S327P	probably damaging	Het
Ccdc83	T	A	7: 89,893,252 (GRCm39)	K168N	probably damaging	Het
Dpysl4	G	T	7: 138,676,092 (GRCm39)	V274F	probably damaging	Het
Fxr2	T	G	11: 69,540,018 (GRCm39)	S292A	probably benign	Het
Gm15130	T	A	2: 110,969,322 (GRCm39)	D132V	unknown	Het
Gpr161	A	G	1: 165,146,372 (GRCm39)	H436R	probably benign	Het
Jaml	C	T	9: 45,012,287 (GRCm39)		probably benign	Het
Kcnc2	A	T	10: 112,297,893 (GRCm39)	S606C	probably damaging	Het
Kcnc2	G	T	10: 112,297,892 (GRCm39)	E605D	probably benign	Het
Kcnrg	T	C	14: 61,845,359 (GRCm39)	I133T	probably damaging	Het
Kdm7a	A	G	6: 39,121,444 (GRCm39)	I837T	probably benign	Het
Lactb2	A	G	1: 13,700,350 (GRCm39)	L227S	probably benign	Het
Lats1	T	G	10: 7,578,069 (GRCm39)	S398A	probably benign	Het
Llgl2	T	A	11: 115,725,710 (GRCm39)	D19E	probably benign	Het
Nup107	A	T	10: 117,609,257 (GRCm39)	C365*	probably null	Het
Nup107	T	C	10: 117,609,273 (GRCm39)		probably null	Het
Plekhf2	T	C	4: 10,991,022 (GRCm39)	K107E	probably damaging	Het
Rnf139	A	T	15: 58,770,391 (GRCm39)	I139F	possibly damaging	Het
Rsbn1	A	G	3: 103,836,006 (GRCm39)	N348S	probably benign	Het
Rttn	A	T	18: 88,992,464 (GRCm39)	Q136H	probably benign	Het
Syne2	C	T	12: 75,972,420 (GRCm39)	T1052I	possibly damaging	Het
Tom1l1	A	T	11: 90,565,566 (GRCm39)	L101Q	probably damaging	Het
Tubal3	A	G	13: 3,983,015 (GRCm39)	N265S	probably damaging	Het
Zfp141	T	C	7: 42,126,079 (GRCm39)	N131S	probably benign	Het
Zfp944	T	C	17: 22,558,186 (GRCm39)	S354G	probably benign	Het
Zfp961	G	A	8: 72,722,272 (GRCm39)	A262T	probably damaging	Het

Other mutations in Chmp1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Chmp1b2	APN	X	106,859,766 (GRCm39)	unclassified	probably benign
IGL03355:Chmp1b2	APN	X	106,831,889 (GRCm39)	missense	possibly damaging	0.78

Posted On

2012-12-06