Mutagenetix > Incidental Mutations

Incidental Mutation 'R5064:Vta1'

459864

Institutional Source

Beutler Lab

Gene Symbol

Vta1

Ensembl Gene

ENSMUSG00000019868

Gene Name

vesicle (multivesicular body) trafficking 1

Synonyms

MMRRC Submission

042654-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R5064 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

14654755-14705560 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 14705478 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020018] [ENSMUST00000154132] [ENSMUST00000190114] [ENSMUST00000191238]

Predicted Effect

probably benign
Transcript: ENSMUST00000020018

Predicted Effect

probably benign
Transcript: ENSMUST00000149485

SMART Domains

Protein: ENSMUSP00000118498
Gene: ENSMUSG00000019868

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:Vta1	16	158	2.2e-50	PFAM
low complexity region	170	181	N/A	INTRINSIC
low complexity region	184	197	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151805

Predicted Effect

probably benign
Transcript: ENSMUST00000154132

SMART Domains

Protein: ENSMUSP00000119829
Gene: ENSMUSG00000019868

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Vta1	16	158	1.6e-53	PFAM
low complexity region	170	181	N/A	INTRINSIC
low complexity region	184	197	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188021

Predicted Effect

probably benign
Transcript: ENSMUST00000190114

SMART Domains

Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865

Domain	Start	End	E-Value	Type
Pfam:7tm_1	8	119	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191238

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.1%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	A	G	7: 29,535,655		noncoding transcript	Het
Abca12	A	G	1: 71,300,960	V1082A	probably damaging	Het
Adamts7	T	A	9: 90,195,830	Y1496N	probably damaging	Het
Ascl2	T	C	7: 142,968,259	N151D	possibly damaging	Het
Asxl3	G	T	18: 22,516,019	S355I	probably benign	Het
Cttnbp2	T	C	6: 18,448,279	Q127R	probably damaging	Het
Efhc1	T	A	1: 20,974,963	I401N	possibly damaging	Het
Eml6	C	T	11: 29,749,300	V1818I	probably benign	Het
Fam129a	A	G	1: 151,689,659	I247V	probably benign	Het
Grin1	G	T	2: 25,303,831		probably benign	Het
Ints2	C	T	11: 86,249,274	R244H	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Mllt6	C	A	11: 97,673,949	A527E	probably damaging	Het
Msh5	G	T	17: 35,043,783		probably benign	Het
Mypn	T	A	10: 63,123,371	D1057V	possibly damaging	Het
Nasp	A	G	4: 116,611,970		probably null	Het
Nat8l	T	C	5: 33,996,869	V9A	probably damaging	Het
Nr1h2	G	A	7: 44,551,649	A219V	possibly damaging	Het
Nup155	C	A	15: 8,135,870	H663Q	probably damaging	Het
Pikfyve	A	G	1: 65,253,407	Y1339C	probably damaging	Het
Plppr1	A	T	4: 49,319,974	H200L	probably benign	Het
Por	T	C	5: 135,733,795	V421A	probably benign	Het
Pxylp1	T	G	9: 96,854,800		probably benign	Het
Serpina3a	G	A	12: 104,116,189	V74I	probably benign	Het
Sfxn1	T	C	13: 54,085,569	I37T	probably benign	Het
Thsd7a	G	T	6: 12,330,952	T1397N	possibly damaging	Het
Tnrc6a	T	C	7: 123,186,723		probably null	Het
Vmn1r55	A	T	7: 5,146,929	M165K	probably benign	Het
Vmn2r58	A	T	7: 41,837,110	M787K	probably damaging	Het
Zfp236	A	G	18: 82,691,576		probably null	Het

Other mutations in Vta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Vta1	APN	10	14684131	missense	probably damaging	0.98
IGL02331:Vta1	APN	10	14705394	missense	probably damaging	1.00
IGL03161:Vta1	APN	10	14667972	missense	possibly damaging	0.54
R2680:Vta1	UTSW	10	14705427	unclassified	probably benign
R4751:Vta1	UTSW	10	14655816	missense	probably benign	0.03
R5288:Vta1	UTSW	10	14705399	missense	probably damaging	0.98
R5635:Vta1	UTSW	10	14668122	splice site	probably null
R6146:Vta1	UTSW	10	14705352	missense	probably damaging	1.00
R7853:Vta1	UTSW	10	14655717	missense	probably damaging	0.96
R7936:Vta1	UTSW	10	14655717	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAAGGCTCAGGTCTGAAGC -3'
(R):5'- CGACACAGGAGACTCTCATTCTC -3'

Sequencing Primer
(F):5'- TCAGGTCTGAAGCCAGGG -3'
(R):5'- TCTCATTCTCCAAATAATAACTGCC -3'

Posted On

2017-02-27