Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Rab6a'

293670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab6a

Ensembl Gene

ENSMUSG00000030704

Gene Name

RAB6A, member RAS oncogene family

Synonyms

2610028L11Rik, Rab6

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.883) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

100607410-100641268 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 100636763 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000098252] [ENSMUST00000107048]

Predicted Effect

probably null
Transcript: ENSMUST00000032946

SMART Domains

Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704

Domain	Start	End	E-Value	Type
RAB	14	177	6.24e-89	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000098252

SMART Domains

Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704

Domain	Start	End	E-Value	Type
RAB	14	177	5.52e-90	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107048

SMART Domains

Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704

Domain	Start	End	E-Value	Type
RAB	1	144	2.57e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123960

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 RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele die aroound E6 with disorganized epiblast. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Rab6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Rab6a	APN	7	100639249	unclassified	probably benign
IGL03296:Rab6a	APN	7	100634724	missense	probably benign	0.00
R3806:Rab6a	UTSW	7	100608224	start codon destroyed	probably null	0.09
R4948:Rab6a	UTSW	7	100628420	missense	probably damaging	0.98
R5593:Rab6a	UTSW	7	100608171	utr 5 prime	probably benign
R5655:Rab6a	UTSW	7	100608294	critical splice donor site	probably null
R5891:Rab6a	UTSW	7	100639247	splice site	probably null
R6816:Rab6a	UTSW	7	100629873	missense	probably damaging	1.00
R7070:Rab6a	UTSW	7	100629857	missense	probably damaging	1.00
R7178:Rab6a	UTSW	7	100636752	nonsense	probably null
R7563:Rab6a	UTSW	7	100608197	utr 5 prime	probably benign

Posted On

2015-04-16