Mutagenetix > Incidental Mutation

Incidental Mutation 'R8696:Rab18'

668742

Institutional Source

Beutler Lab

Gene Symbol

Rab18

Ensembl Gene

ENSMUSG00000073639

Gene Name

RAB18, member RAS oncogene family

Synonyms

MMRRC Submission

068550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.782) question?

Stock #

R8696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6765167-6791606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6788635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 201 (G201S)

Ref Sequence

ENSEMBL: ENSMUSP00000095285 (fasta)

Gene Model

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

AlphaFold

P35293

Predicted Effect

probably damaging
Transcript: ENSMUST00000097680
AA Change: G201S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639
AA Change: G201S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,687,235 (GRCm39)	N423S	probably benign	Het
Adgrl4	T	C	3: 151,248,344 (GRCm39)	L672P	probably damaging	Het
Akr1b10	C	T	6: 34,369,067 (GRCm39)	T182I	possibly damaging	Het
Ankrd33	A	G	15: 101,014,864 (GRCm39)	I84V	probably benign	Het
Arhgap32	A	G	9: 32,159,799 (GRCm39)	Y272C	possibly damaging	Het
Arid4a	T	C	12: 71,110,090 (GRCm39)	S144P	probably damaging	Het
Bicd1	A	G	6: 149,415,285 (GRCm39)	D666G	probably damaging	Het
Blk	A	T	14: 63,618,149 (GRCm39)		probably benign	Het
Btbd2	C	T	10: 80,480,515 (GRCm39)	R366Q	possibly damaging	Het
Cacna1i	T	C	15: 80,266,175 (GRCm39)	V1554A	probably damaging	Het
Camsap3	T	C	8: 3,653,614 (GRCm39)	L428P	probably damaging	Het
Ccdc30	T	G	4: 119,234,505 (GRCm39)	Y69S	possibly damaging	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdk11b	T	C	4: 155,732,779 (GRCm39)	V539A	unknown	Het
Ceacam3	A	T	7: 16,893,937 (GRCm39)	N483Y		Het
Cenpf	C	T	1: 189,390,194 (GRCm39)	A1213T	probably benign	Het
Chrna6	G	T	8: 27,897,195 (GRCm39)	Y227*	probably null	Het
Cntnap5c	A	T	17: 58,601,294 (GRCm39)	D814V	probably damaging	Het
Csl	A	T	10: 99,594,826 (GRCm39)	Y80N	probably damaging	Het
Ctsm	A	G	13: 61,685,521 (GRCm39)	L297P	probably damaging	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dhx8	T	C	11: 101,623,958 (GRCm39)	V31A	unknown	Het
Dis3l2	G	T	1: 86,719,162 (GRCm39)	G131*	probably null	Het
Dkk1	G	A	19: 30,526,688 (GRCm39)	A31V	probably damaging	Het
Dlx3	C	T	11: 95,012,596 (GRCm39)	R130*	probably null	Het
Dnajc24	T	C	2: 105,832,315 (GRCm39)	M23V	probably benign	Het
Dnmbp	T	A	19: 43,862,662 (GRCm39)	N76I	probably damaging	Het
Ezh1	T	C	11: 101,100,305 (GRCm39)	N226S	probably benign	Het
Fabp9	C	T	3: 10,259,047 (GRCm39)	V120M	possibly damaging	Het
Fcrlb	A	G	1: 170,739,648 (GRCm39)	C85R	probably damaging	Het
Gnai2	A	C	9: 107,496,968 (GRCm39)	L131R		Het
Gprin1	A	G	13: 54,885,764 (GRCm39)	W837R	probably damaging	Het
Grm3	C	T	5: 9,562,311 (GRCm39)	C513Y	probably damaging	Het
H60c	T	A	10: 3,210,265 (GRCm39)	I95F	possibly damaging	Het
Hecw1	A	G	13: 14,531,743 (GRCm39)	V177A	possibly damaging	Het
Herc6	T	A	6: 57,624,134 (GRCm39)	C635S	probably benign	Het
Itga4	A	T	2: 79,112,125 (GRCm39)	M347L	probably benign	Het
Kif20b	A	G	19: 34,914,752 (GRCm39)	H436R	probably benign	Het
Klrg2	G	T	6: 38,613,430 (GRCm39)	P191Q	possibly damaging	Het
Krt5	A	G	15: 101,618,742 (GRCm39)	Y340H	probably damaging	Het
Map9	T	A	3: 82,270,668 (GRCm39)	H77Q	possibly damaging	Het
Mfsd13a	A	G	19: 46,356,557 (GRCm39)	T221A	probably benign	Het
Myo10	C	G	15: 25,799,572 (GRCm39)	H1378Q	probably damaging	Het
Nkx6-1	T	C	5: 101,807,513 (GRCm39)	T290A	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Notch1	T	A	2: 26,368,004 (GRCm39)		probably benign	Het
Nr1d2	A	T	14: 18,216,661 (GRCm38)	M169K	probably damaging	Het
Or10ak8	C	T	4: 118,774,635 (GRCm39)	V10I	probably benign	Het
Or11g1	A	G	14: 50,651,420 (GRCm39)	M140V	possibly damaging	Het
Or13c7c	A	G	4: 43,836,193 (GRCm39)	V99A	probably benign	Het
Or6c69b	A	T	10: 129,626,562 (GRCm39)	F299I	possibly damaging	Het
Or8b41	A	G	9: 38,054,433 (GRCm39)	M1V	probably null	Het
Pdia6	T	A	12: 17,329,662 (GRCm39)	I266K	probably damaging	Het
Phactr4	T	C	4: 132,091,105 (GRCm39)		probably null	Het
Polr1b	T	A	2: 128,967,571 (GRCm39)	L988Q	probably damaging	Het
Por	A	T	5: 135,763,112 (GRCm39)	M541L	probably benign	Het
Ppid	T	C	3: 79,498,689 (GRCm39)		probably benign	Het
Prp2	A	T	6: 132,577,322 (GRCm39)	Q203L	unknown	Het
Psme4	T	G	11: 30,759,896 (GRCm39)	F340V	probably damaging	Het
Ptges2	T	C	2: 32,290,077 (GRCm39)	S164P	probably damaging	Het
Rbm19	A	G	5: 120,265,132 (GRCm39)	E391G	probably damaging	Het
Rcbtb2	T	G	14: 73,404,305 (GRCm39)	V259G	probably damaging	Het
Rpn1	C	A	6: 88,080,359 (GRCm39)	Q553K	possibly damaging	Het
Sash1	A	G	10: 8,609,459 (GRCm39)	S697P	probably damaging	Het
Sdad1	T	G	5: 92,437,645 (GRCm39)	H603P	probably damaging	Het
Serpini1	T	C	3: 75,520,544 (GRCm39)	L47P	probably damaging	Het
Sorbs2	T	A	8: 46,248,686 (GRCm39)	S646T	possibly damaging	Het
Spdye4a	T	A	5: 143,210,754 (GRCm39)	E105D	probably benign	Het
Srsf12	G	A	4: 33,231,181 (GRCm39)	C230Y	possibly damaging	Het
Stard9	A	T	2: 120,531,595 (GRCm39)	R2617S	probably benign	Het
Tas2r118	G	T	6: 23,969,344 (GRCm39)	T239K	probably damaging	Het
Tlr1	A	G	5: 65,084,094 (GRCm39)	L161P	probably benign	Het
Ttc21a	T	G	9: 119,772,977 (GRCm39)	V218G	possibly damaging	Het
Ttc6	T	C	12: 57,784,492 (GRCm39)	S1854P	probably benign	Het
Unc93a	A	G	17: 13,341,852 (GRCm39)	L93P	probably damaging	Het
Vcan	A	T	13: 89,839,217 (GRCm39)	I2109N	probably benign	Het
Vmn1r225	A	T	17: 20,723,419 (GRCm39)	S287C	probably damaging	Het
Vmn1r43	A	G	6: 89,847,321 (GRCm39)	F55S	probably damaging	Het
Zfp772	T	C	7: 7,208,518 (GRCm39)	T109A	possibly damaging	Het
Zfp87	A	G	13: 74,520,599 (GRCm39)	Y160H	probably damaging	Het

Other mutations in Rab18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02793:Rab18	APN	18	6,788,474 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCCGTAATCAGTAGAAACACATGAG -3'
(R):5'- AAAGCCAATGAGGGAGTTTCTTG -3'

Sequencing Primer
(F):5'- GTACAGTGTGCCTTTGAG -3'
(R):5'- GGGAGTTTCTTGCAAATACTCACTGC -3'

Posted On

2021-04-30