Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Rab6a'

457183

Institutional Source

Beutler Lab

Gene Symbol

Rab6a

Ensembl Gene

ENSMUSG00000030704

Gene Name

RAB6A, member RAS oncogene family

Synonyms

2610028L11Rik, Rab6

MMRRC Submission

044092-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100256778-100290475 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 100288454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000032946] [ENSMUST00000079176] [ENSMUST00000098252] [ENSMUST00000098252] [ENSMUST00000107044] [ENSMUST00000107045] [ENSMUST00000107046] [ENSMUST00000107047] [ENSMUST00000107048] [ENSMUST00000107048] [ENSMUST00000107048] [ENSMUST00000107048] [ENSMUST00000116287]

AlphaFold

P35279

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: 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: ENSMUST00000079176

SMART Domains

Protein: ENSMUSP00000078175
Gene: ENSMUSG00000030701

Domain	Start	End	E-Value	Type
PH	22	130	1.25e-5	SMART
low complexity region	216	237	N/A	INTRINSIC

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: 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: ENSMUST00000107044

SMART Domains

Protein: ENSMUSP00000102659
Gene: ENSMUSG00000030701

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	162	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107045

SMART Domains

Protein: ENSMUSP00000102660
Gene: ENSMUSG00000030701

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	197	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107046

SMART Domains

Protein: ENSMUSP00000102661
Gene: ENSMUSG00000030701

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	162	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107047

SMART Domains

Protein: ENSMUSP00000102662
Gene: ENSMUSG00000030701

Domain	Start	End	E-Value	Type
PH	22	130	1.25e-5	SMART
low complexity region	181	202	N/A	INTRINSIC

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

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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000116287

SMART Domains

Protein: ENSMUSP00000111991
Gene: ENSMUSG00000030701

Domain	Start	End	E-Value	Type
PH	3	111	1.25e-5	SMART
low complexity region	197	218	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,426,496 (GRCm39)	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,589,623 (GRCm39)	R387L	possibly damaging	Het
Adgb	G	A	10: 10,253,591 (GRCm39)	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,225,689 (GRCm39)	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,387,136 (GRCm39)	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,536,975 (GRCm39)	E69D	possibly damaging	Het
Atm	T	C	9: 53,408,459 (GRCm39)	T1129A	probably benign	Het
Atosa	C	G	9: 74,911,668 (GRCm39)	C46W	probably damaging	Het
AU021092	T	C	16: 5,029,995 (GRCm39)	D340G	probably benign	Het
Baz2a	T	A	10: 127,957,191 (GRCm39)	I978N	probably damaging	Het
BC034090	T	C	1: 155,108,793 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,116,204 (GRCm39)	L830P	probably damaging	Het
Bicral	T	C	17: 47,112,155 (GRCm39)	N1015S	probably benign	Het
Ccdc9b	T	A	2: 118,591,864 (GRCm39)	D92V	probably damaging	Het
Ceacam3	C	A	7: 16,885,718 (GRCm39)	T107N	probably damaging	Het
Cep83	T	C	10: 94,561,537 (GRCm39)	V109A	probably benign	Het
Ces1e	A	G	8: 93,929,894 (GRCm39)	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,089,054 (GRCm39)	V55A	probably benign	Het
Col19a1	T	C	1: 24,328,806 (GRCm39)	E900G	probably damaging	Het
Commd3	A	G	2: 18,678,626 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,872 (GRCm39)	I157T	probably damaging	Het
Cplane1	A	G	15: 8,218,073 (GRCm39)	I828V	probably benign	Het
Ctso	T	A	3: 81,861,561 (GRCm39)	F311L	probably benign	Het
Cxcl10	A	G	5: 92,496,083 (GRCm39)		probably benign	Het
Daam1	C	A	12: 71,990,923 (GRCm39)	T179N	unknown	Het
Ddx24	T	C	12: 103,390,317 (GRCm39)	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,502,703 (GRCm39)	T278A	probably benign	Het
Dnajc2	A	T	5: 21,966,709 (GRCm39)	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,288,456 (GRCm39)	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,580,654 (GRCm39)		probably null	Het
Exoc1	A	G	5: 76,689,991 (GRCm39)	D177G	probably damaging	Het
Fam135b	C	T	15: 71,397,652 (GRCm39)	R136H	probably damaging	Het
Filip1	T	G	9: 79,727,142 (GRCm39)	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,843,002 (GRCm39)	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,684,425 (GRCm39)	W366R	probably damaging	Het
Htt	A	G	5: 35,028,167 (GRCm39)	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,561,249 (GRCm39)	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,337,674 (GRCm39)	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,424 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 65,025,854 (GRCm39)		probably null	Het
Klkb1	T	A	8: 45,723,703 (GRCm39)	T571S	probably benign	Het
Mapkbp1	G	T	2: 119,854,413 (GRCm39)	E1337*	probably null	Het
Met	A	G	6: 17,491,538 (GRCm39)	D100G	probably benign	Het
Mgam	T	A	6: 40,721,282 (GRCm39)	D183E	probably benign	Het
Mrgprb13	T	C	7: 47,962,007 (GRCm39)		noncoding transcript	Het
Mrgprx2	T	C	7: 48,131,994 (GRCm39)	T275A	probably benign	Het
Mroh2a	C	A	1: 88,169,337 (GRCm39)	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,685,808 (GRCm39)	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,267,933 (GRCm39)		probably benign	Het
Or12j2	C	T	7: 139,916,513 (GRCm39)	T246I	probably benign	Het
Or12k8	T	A	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or4k47	A	T	2: 111,451,778 (GRCm39)	L214M	probably damaging	Het
Or5p5	C	T	7: 107,414,387 (GRCm39)	P199S	probably damaging	Het
Otoa	T	A	7: 120,731,583 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,020,571 (GRCm39)	C233*	probably null	Het
Pikfyve	A	G	1: 65,241,896 (GRCm39)	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,412,756 (GRCm39)	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,418,274 (GRCm39)		probably benign	Het
Rbm11	C	T	16: 75,395,725 (GRCm39)	A132V	possibly damaging	Het
Septin4	G	T	11: 87,479,750 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,575 (GRCm39)	E210G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slco5a1	A	G	1: 13,060,626 (GRCm39)	F32L	probably benign	Het
Smad2	A	G	18: 76,433,046 (GRCm39)	E326G	probably damaging	Het
Sp9	T	A	2: 73,104,595 (GRCm39)	L383Q	probably damaging	Het
Stx11	T	C	10: 12,817,559 (GRCm39)	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,056,213 (GRCm39)	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,614,034 (GRCm39)		probably benign	Het
Tdrd9	T	A	12: 112,009,153 (GRCm39)	S1020T	probably damaging	Het
Tead3	A	T	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,800,926 (GRCm39)	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,725,171 (GRCm39)	D268E	probably damaging	Het
Ttn	A	G	2: 76,576,085 (GRCm39)	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,135,937 (GRCm39)	Y908*	probably null	Het
Urb2	G	T	8: 124,757,595 (GRCm39)	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535 (GRCm39)	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838 (GRCm39)	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het
Zfp518a	T	A	19: 40,900,877 (GRCm39)	C269S	probably damaging	Het
Zfp933	T	C	4: 147,911,231 (GRCm39)	K90E	probably benign	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
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
R7563:Rab6a	UTSW	7	100,257,404 (GRCm39)	utr 5 prime	probably benign
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'- CCAGAGTGAGTAGGGTTTACG -3'
(R):5'- GGGAAAAGGTTCAAGCCAATATTC -3'

Sequencing Primer
(F):5'- GTTGAAGGCTCACAACCATCTG -3'
(R):5'- GGTTCAAGCCAATATTCACACTG -3'

Posted On

2017-02-15