Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03355:Chmp1b2'

419888

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 #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

106826357-106859940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106831889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 180 (V180F)

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

possibly damaging
Transcript: ENSMUST00000120722
AA Change: V180F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113588
Gene: ENSMUSG00000031242
AA Change: V180F

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt1	T	C	X: 45,418,624 (GRCm39)	V213A	probably benign	Het
Adam28	A	T	14: 68,872,252 (GRCm39)		probably benign	Het
Apeh	T	C	9: 107,963,644 (GRCm39)	H557R	probably benign	Het
Atmin	T	A	8: 117,684,164 (GRCm39)	L608*	probably null	Het
B3gnt5	A	T	16: 19,587,903 (GRCm39)	M41L	probably benign	Het
Best3	T	C	10: 116,829,010 (GRCm39)	F97L	possibly damaging	Het
Col7a1	G	A	9: 108,807,228 (GRCm39)	V2486M	unknown	Het
Crym	T	C	7: 119,798,536 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,482,868 (GRCm39)		probably null	Het
Dnah7b	A	G	1: 46,158,464 (GRCm39)	D349G	probably benign	Het
Eea1	T	C	10: 95,878,074 (GRCm39)		probably benign	Het
Emc1	C	T	4: 139,098,904 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,489,143 (GRCm39)		probably benign	Het
Ereg	A	G	5: 91,236,440 (GRCm39)		probably benign	Het
Faah	G	A	4: 115,859,725 (GRCm39)	P369S	probably benign	Het
Fam135a	A	T	1: 24,068,249 (GRCm39)	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140 (GRCm39)	S622P	probably damaging	Het
Gm10030	A	G	9: 110,835,841 (GRCm39)		noncoding transcript	Het
Gpr179	A	T	11: 97,228,434 (GRCm39)	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,904,754 (GRCm39)	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,693,445 (GRCm39)	N31D	possibly damaging	Het
Kel	C	T	6: 41,675,821 (GRCm39)		probably null	Het
Khk	A	T	5: 31,086,904 (GRCm39)	I108L	probably benign	Het
Morc4	T	C	X: 138,750,431 (GRCm39)	N375S	probably null	Het
Mta3	A	T	17: 84,107,474 (GRCm39)		probably benign	Het
Nacc2	T	C	2: 25,952,249 (GRCm39)	K369R	probably damaging	Het
Nkap	T	C	X: 36,403,323 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,928,618 (GRCm39)	L6016Q	probably damaging	Het
Or52e2	T	C	7: 102,804,408 (GRCm39)	E182G	probably damaging	Het
Or8c9	A	T	9: 38,240,952 (GRCm39)	Q20L	probably benign	Het
Pde4c	T	A	8: 71,199,244 (GRCm39)	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,548,284 (GRCm39)		probably null	Het
Rap1gap2	T	A	11: 74,303,170 (GRCm39)	I426F	probably damaging	Het
Rbm33	C	A	5: 28,596,059 (GRCm39)		probably benign	Het
Rnf139	C	A	15: 58,771,881 (GRCm39)	D635E	probably benign	Het
Sar1a	T	C	10: 61,520,718 (GRCm39)	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,366,766 (GRCm39)	S56A	probably benign	Het
Scn3a	T	C	2: 65,290,912 (GRCm39)	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,864,071 (GRCm39)	G118R	unknown	Het
Sgce	T	A	6: 4,689,738 (GRCm39)	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,770,232 (GRCm39)	Y277*	probably null	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Sphkap	A	T	1: 83,258,224 (GRCm39)	I173N	probably damaging	Het
Spred3	C	T	7: 28,860,997 (GRCm39)	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689 (GRCm39)	D283G	probably benign	Het
Tipin	A	T	9: 64,195,406 (GRCm39)	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,379,730 (GRCm39)	I380F	probably benign	Het
Tymp	T	C	15: 89,259,219 (GRCm39)	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,544 (GRCm39)	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,511,580 (GRCm39)	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,481,346 (GRCm39)	S1024P	possibly 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
IGL00595:Chmp1b2	APN	X	106,831,450 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02