Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00917:Rab8b'

28147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab8b

Ensembl Gene

ENSMUSG00000036943

Gene Name

RAB8B, member RAS oncogene family

Synonyms

Rab8b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00917

Quality Score

Status

Chromosome

Chromosomal Location

66750946-66826969 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 66761969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 102 (W102*)

Ref Sequence

ENSEMBL: ENSMUSP00000041857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041139]

AlphaFold

P61028

Predicted Effect

probably null
Transcript: ENSMUST00000041139
AA Change: W102*

SMART Domains

Protein: ENSMUSP00000041857
Gene: ENSMUSG00000036943
AA Change: W102*

Domain	Start	End	E-Value	Type
RAB	9	172	3.04e-110	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no overt abnormalities and normal survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,241,107 (GRCm39)	V26E	probably benign	Het
Adcy4	T	A	14: 56,011,120 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,841,421 (GRCm39)	T766I	possibly damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Atp8b4	A	T	2: 126,216,453 (GRCm39)	S664R	probably benign	Het
Cand1	A	C	10: 119,046,841 (GRCm39)	I883S	possibly damaging	Het
Cfap53	A	G	18: 74,432,367 (GRCm39)	D85G	probably benign	Het
Chd4	G	A	6: 125,081,909 (GRCm39)	R514Q	possibly damaging	Het
Cnst	T	C	1: 179,452,557 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,661,453 (GRCm39)		probably benign	Het
Cux2	A	C	5: 122,007,168 (GRCm39)	L831R	probably null	Het
Elf2	T	A	3: 51,215,467 (GRCm39)		probably benign	Het
Frey1	T	A	2: 92,213,563 (GRCm39)	S39T	probably benign	Het
Glp1r	A	G	17: 31,138,443 (GRCm39)		probably benign	Het
Hus1b	A	G	13: 31,131,527 (GRCm39)	M44T	probably benign	Het
Mbd6	A	G	10: 127,119,988 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,102,905 (GRCm39)		probably null	Het
Mmrn1	C	T	6: 60,952,894 (GRCm39)	Q392*	probably null	Het
Mrpl3	T	G	9: 104,934,240 (GRCm39)	V121G	probably damaging	Het
Or10am5	A	G	7: 6,517,577 (GRCm39)	S284P	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Palld	A	G	8: 61,968,969 (GRCm39)	V879A	possibly damaging	Het
Pkn2	G	T	3: 142,559,386 (GRCm39)	D46E	probably damaging	Het
Prkdc	T	A	16: 15,557,428 (GRCm39)	C2244S	probably damaging	Het
Prss50	T	A	9: 110,691,474 (GRCm39)	H259Q	possibly damaging	Het
Rad54l2	A	T	9: 106,587,638 (GRCm39)	L709Q	possibly damaging	Het
Rapgef1	T	C	2: 29,592,535 (GRCm39)	V471A	probably benign	Het
Rbms3	A	G	9: 116,939,183 (GRCm39)	S27P	probably damaging	Het
Rpl35a	A	G	16: 32,879,101 (GRCm39)	K73E	possibly damaging	Het
Sugct	A	T	13: 17,032,503 (GRCm39)	Y416*	probably null	Het
Top2b	A	G	14: 16,407,354 (GRCm38)	I713V	probably benign	Het
Unc79	A	T	12: 103,054,766 (GRCm39)	R777S	possibly damaging	Het
Vps37a	T	A	8: 40,993,779 (GRCm39)	M258K	probably benign	Het
Zfp944	G	A	17: 22,558,765 (GRCm39)	L161F	probably benign	Het

Other mutations in Rab8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Rab8b	APN	9	66,760,274 (GRCm39)	missense	probably benign	0.30
IGL02145:Rab8b	APN	9	66,755,000 (GRCm39)	utr 3 prime	probably benign
R1178:Rab8b	UTSW	9	66,760,249 (GRCm39)	missense	possibly damaging	0.53
R3836:Rab8b	UTSW	9	66,755,078 (GRCm39)	missense	probably benign
R6411:Rab8b	UTSW	9	66,761,948 (GRCm39)	critical splice donor site	probably null
R8907:Rab8b	UTSW	9	66,826,807 (GRCm39)	missense	probably benign	0.14
R9199:Rab8b	UTSW	9	66,758,641 (GRCm39)	missense	probably damaging	1.00
R9435:Rab8b	UTSW	9	66,755,912 (GRCm39)	missense	probably damaging	1.00
R9694:Rab8b	UTSW	9	66,826,824 (GRCm39)	missense	probably benign	0.01

Posted On

2013-04-17