Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02793:Rab18'

359859

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab18

Ensembl Gene

ENSMUSG00000073639

Gene Name

RAB18, member RAS oncogene family

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.782) question?

Stock #

IGL02793

Quality Score

Status

Chromosome

Chromosomal Location

6765167-6791606 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 6788474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097680]

AlphaFold

P35293

Predicted Effect

probably benign
Transcript: ENSMUST00000097680

SMART Domains

Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639

Domain	Start	End	E-Value	Type
RAB	9	172	1.83e-104	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Ras-related small GTPases, which regulate membrane trafficking in organelles and transport vesicles. This protein is expressed predominantly in lipid droplets, organelles that store neutral lipids, and is proposed to play a role in lipolysis and lipogenesis. In humans mutations in this gene are associated with Warburg micro syndrome type 3. A pseudogene of this gene is located on chromosome X. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice show partial perinatal lethality and abnormal eye development, and develop nuclear cataracts, atonic pupils, progressive limb weakness, disruption of neuronal cytoskeleton, and accumulation of neurofilament and microtubule proteins in synaptic terminals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,293 (GRCm39)	I397V	possibly damaging	Het
Bco2	A	T	9: 50,455,834 (GRCm39)	V173E	probably damaging	Het
Bdnf	T	C	2: 109,554,196 (GRCm39)	V150A	probably damaging	Het
Cdh15	T	A	8: 123,587,721 (GRCm39)	V215E	probably damaging	Het
Col6a2	A	T	10: 76,432,144 (GRCm39)	I1003N	possibly damaging	Het
Daam2	A	C	17: 49,771,056 (GRCm39)	I887S	probably damaging	Het
Dnajb13	C	T	7: 100,156,648 (GRCm39)	D143N	probably damaging	Het
Fabp3-ps1	T	A	10: 86,567,943 (GRCm39)		probably benign	Het
Gid4	G	A	11: 60,323,256 (GRCm39)	R116Q	probably benign	Het
Hectd2	A	G	19: 36,564,821 (GRCm39)	E34G	probably damaging	Het
Hyal6	A	T	6: 24,734,378 (GRCm39)	K104*	probably null	Het
Il1b	A	G	2: 129,209,171 (GRCm39)	I153T	probably benign	Het
Kdm3b	A	G	18: 34,962,072 (GRCm39)	M1499V	probably damaging	Het
Kntc1	C	A	5: 123,916,340 (GRCm39)		probably null	Het
Lmbr1	A	G	5: 29,497,186 (GRCm39)	S72P	probably damaging	Het
Lrrc2	T	C	9: 110,808,695 (GRCm39)		probably null	Het
Map2k5	T	C	9: 63,164,321 (GRCm39)	I328V	probably benign	Het
Mphosph9	T	A	5: 124,421,800 (GRCm39)		probably null	Het
Mpp4	C	T	1: 59,175,993 (GRCm39)		probably null	Het
Ndrg3	A	G	2: 156,791,952 (GRCm39)		probably null	Het
Ndufa10	A	C	1: 92,397,639 (GRCm39)	Y136D	probably damaging	Het
Or10ak9	A	T	4: 118,726,794 (GRCm39)	D271V	probably damaging	Het
Or2b7	T	A	13: 21,740,172 (GRCm39)	S7C	probably damaging	Het
Or4a72	T	C	2: 89,405,896 (GRCm39)	Y58C	probably damaging	Het
Or8g34	A	G	9: 39,372,802 (GRCm39)	E22G	probably benign	Het
Rad1	T	C	15: 10,493,365 (GRCm39)	I264T	probably benign	Het
Rhbdf1	A	G	11: 32,163,293 (GRCm39)	V393A	possibly damaging	Het
Rrp12	A	G	19: 41,860,005 (GRCm39)	L1025P	probably damaging	Het
Rtca	A	G	3: 116,286,726 (GRCm39)	F302S	probably damaging	Het
Slc9b1	T	A	3: 135,080,167 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,464,828 (GRCm39)		probably benign	Het
Ssrp1	T	A	2: 84,871,264 (GRCm39)	I257N	probably damaging	Het
Sval2	A	C	6: 41,838,795 (GRCm39)	Y11S	probably benign	Het
Tcl1b2	T	C	12: 105,120,358 (GRCm39)	*118Q	probably null	Het
Thsd7b	A	G	1: 129,879,130 (GRCm39)	Y989C	probably damaging	Het
Tlr4	A	C	4: 66,757,681 (GRCm39)	H158P	probably damaging	Het
Vmn2r42	T	C	7: 8,197,852 (GRCm39)	T256A	probably benign	Het
Xdh	T	C	17: 74,207,576 (GRCm39)	E927G	probably damaging	Het
Yap1	T	C	9: 7,973,907 (GRCm39)	N178S	probably benign	Het

Other mutations in Rab18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2018:Rab18	UTSW	18	6,770,113 (GRCm39)	splice site	probably null
R2248:Rab18	UTSW	18	6,788,629 (GRCm39)	missense	probably damaging	1.00
R2314:Rab18	UTSW	18	6,788,516 (GRCm39)	missense	probably damaging	1.00
R3976:Rab18	UTSW	18	6,778,529 (GRCm39)	missense	probably benign	0.00
R6240:Rab18	UTSW	18	6,784,635 (GRCm39)	missense	probably benign	0.23
R7081:Rab18	UTSW	18	6,778,529 (GRCm39)	missense	probably benign	0.00
R7652:Rab18	UTSW	18	6,783,123 (GRCm39)	missense	possibly damaging	0.95
R8696:Rab18	UTSW	18	6,788,635 (GRCm39)	missense	probably damaging	1.00
R9628:Rab18	UTSW	18	6,788,647 (GRCm39)	missense	probably benign	0.01
R9687:Rab18	UTSW	18	6,784,622 (GRCm39)	missense	probably benign	0.10
X0026:Rab18	UTSW	18	6,788,615 (GRCm39)	missense	probably benign

Posted On

2015-12-18