Mutagenetix > Incidental Mutation

Incidental Mutation 'R7563:Rab6a'

585259

Institutional Source

Beutler Lab

Gene Symbol

Rab6a

Ensembl Gene

ENSMUSG00000030704

Gene Name

RAB6A, member RAS oncogene family

Synonyms

2610028L11Rik, Rab6

MMRRC Submission

045655-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100256778-100290475 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 100257404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000098252] [ENSMUST00000107048] [ENSMUST00000138448] [ENSMUST00000146003]

AlphaFold

P35279

Predicted Effect

probably benign
Transcript: ENSMUST00000032946

SMART Domains

Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098252

SMART Domains

Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107048

SMART Domains

Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138448

Predicted Effect

probably benign
Transcript: ENSMUST00000146003

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,464 (GRCm39)	I98T	probably damaging	Het
Ahnak	T	C	19: 8,988,529 (GRCm39)	I3271T	probably damaging	Het
Aox1	G	A	1: 58,086,304 (GRCm39)	V70I	probably benign	Het
Ap1g2	A	G	14: 55,337,206 (GRCm39)	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1e	T	C	1: 154,347,162 (GRCm39)	K1064E	probably benign	Het
Capn11	T	A	17: 45,944,891 (GRCm39)	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220 (GRCm39)	I48V	probably damaging	Het
Ces1d	T	A	8: 93,904,667 (GRCm39)	I358F	probably benign	Het
Clgn	A	T	8: 84,147,185 (GRCm39)	N379I	probably damaging	Het
Cym	T	C	3: 107,121,548 (GRCm39)	Y248C	probably damaging	Het
Epha8	T	C	4: 136,666,100 (GRCm39)	D352G	possibly damaging	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Fam219a	A	C	4: 41,569,208 (GRCm39)	V10G	probably benign	Het
Fbxl5	C	T	5: 43,978,891 (GRCm39)	V20I	probably benign	Het
Fbxl9	A	G	8: 106,042,388 (GRCm39)	C147R	probably benign	Het
Fscb	T	C	12: 64,520,059 (GRCm39)	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,496,659 (GRCm39)		probably null	Het
Grep1	A	T	17: 23,936,302 (GRCm39)	F8L	probably benign	Het
Helt	T	C	8: 46,746,630 (GRCm39)		probably benign	Het
Igkv8-27	G	T	6: 70,148,887 (GRCm39)	T89K	probably benign	Het
Ipo5	T	A	14: 121,183,567 (GRCm39)	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,212,464 (GRCm39)	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,632,680 (GRCm39)	P936S	probably benign	Het
Klrd1	A	G	6: 129,570,701 (GRCm39)	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,705,271 (GRCm39)	V1267A	probably damaging	Het
Marchf1	A	T	8: 66,920,965 (GRCm39)	Q214L	probably damaging	Het
Mlip	G	T	9: 77,020,279 (GRCm39)	H52N	probably damaging	Het
Oas1e	T	C	5: 120,927,021 (GRCm39)	R229G	probably benign	Het
Ogfr	T	A	2: 180,234,300 (GRCm39)		probably null	Het
Or4g16	T	C	2: 111,137,134 (GRCm39)	F195L	probably benign	Het
Or5m10	T	A	2: 85,717,482 (GRCm39)	Y113N	probably damaging	Het
Pde4d	T	C	13: 110,087,541 (GRCm39)	I636T	probably benign	Het
Pex5l	C	T	3: 33,008,625 (GRCm39)	V426I	probably damaging	Het
Pmfbp1	A	G	8: 110,252,006 (GRCm39)	K384E	possibly damaging	Het
Pramel22	A	T	4: 143,380,675 (GRCm39)	Y449*	probably null	Het
Prl6a1	T	G	13: 27,498,221 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,038 (GRCm39)	W344R	probably damaging	Het
Ptar1	T	A	19: 23,697,680 (GRCm39)	D397E	probably benign	Het
Qrsl1	G	A	10: 43,752,513 (GRCm39)	R437C	probably damaging	Het
Samd14	C	A	11: 94,912,239 (GRCm39)	S205R	probably benign	Het
Sel1l3	T	C	5: 53,343,326 (GRCm39)	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,940,480 (GRCm39)	L669I	probably benign	Het
Ssc4d	A	G	5: 135,991,887 (GRCm39)	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,101,063 (GRCm39)	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,108,301 (GRCm39)	F417V	probably benign	Het
Top2a	T	C	11: 98,907,005 (GRCm39)	D212G	probably damaging	Het
Trim39	A	T	17: 36,571,807 (GRCm39)	V317E	probably damaging	Het
Uncx	G	A	5: 139,530,261 (GRCm39)	R113H	probably damaging	Het
Usp4	A	G	9: 108,256,543 (GRCm39)	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,510,000 (GRCm39)	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,491,200 (GRCm39)	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,182,770 (GRCm39)	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,340,245 (GRCm39)	W829R	probably damaging	Het
Zfp574	C	A	7: 24,780,777 (GRCm39)	H600N	possibly damaging	Het

Other mutations in Rab6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Rab6a	APN	7	100,288,456 (GRCm39)	unclassified	probably benign
IGL02451:Rab6a	APN	7	100,285,970 (GRCm39)	critical splice donor site	probably null
IGL03296:Rab6a	APN	7	100,283,931 (GRCm39)	missense	probably benign	0.00
R3806:Rab6a	UTSW	7	100,257,431 (GRCm39)	start codon destroyed	probably null	0.09
R4948:Rab6a	UTSW	7	100,277,627 (GRCm39)	missense	probably damaging	0.98
R5593:Rab6a	UTSW	7	100,257,378 (GRCm39)	utr 5 prime	probably benign
R5655:Rab6a	UTSW	7	100,257,501 (GRCm39)	critical splice donor site	probably null
R5891:Rab6a	UTSW	7	100,288,454 (GRCm39)	splice site	probably null
R6816:Rab6a	UTSW	7	100,279,080 (GRCm39)	missense	probably damaging	1.00
R7070:Rab6a	UTSW	7	100,279,064 (GRCm39)	missense	probably damaging	1.00
R7178:Rab6a	UTSW	7	100,285,959 (GRCm39)	nonsense	probably null
R8816:Rab6a	UTSW	7	100,279,145 (GRCm39)	missense	possibly damaging	0.60
R8831:Rab6a	UTSW	7	100,283,931 (GRCm39)	missense	probably benign	0.00
R9214:Rab6a	UTSW	7	100,275,786 (GRCm39)	missense	probably damaging	1.00
R9276:Rab6a	UTSW	7	100,275,809 (GRCm39)	missense	probably benign	0.00
R9292:Rab6a	UTSW	7	100,285,963 (GRCm39)	missense	probably benign	0.00
R9315:Rab6a	UTSW	7	100,281,017 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGCGTTCTGAGGGAAGGAAC -3'
(R):5'- TTTTAGGAAGAGCGAGGCC -3'

Sequencing Primer
(F):5'- TCGGTGCTAGGCGACTCTG -3'
(R):5'- AGTCGCGCACTCACCGCTCTGCTC -3'

Posted On

2019-10-17