Mutagenetix > Incidental Mutation

Incidental Mutation 'R9628:Rab18'

725310

Institutional Source

Beutler Lab

Gene Symbol

Rab18

Ensembl Gene

ENSMUSG00000073639

Gene Name

RAB18, member RAS oncogene family

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.782) question?

Stock #

R9628 (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 6788647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 205 (V205M)

Ref Sequence

ENSEMBL: ENSMUSP00000095285 (fasta)

Gene Model

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

AlphaFold

P35293

Predicted Effect

probably benign
Transcript: ENSMUST00000097680
AA Change: V205M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639
AA Change: V205M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,193 (GRCm39)	N635D	probably damaging	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Arhgef38	T	C	3: 132,838,025 (GRCm39)	Y635C	unknown	Het
Avl9	T	A	6: 56,713,460 (GRCm39)	Y239*	probably null	Het
C2cd3	T	A	7: 100,097,961 (GRCm39)	H1449Q		Het
Ccdc141	G	A	2: 76,844,838 (GRCm39)	P1410S	probably damaging	Het
Ccz1	G	A	5: 143,925,043 (GRCm39)	T471M	possibly damaging	Het
Cdh26	T	C	2: 178,083,213 (GRCm39)	S27P		Het
Cdk11b	T	G	4: 155,734,154 (GRCm39)	D756E	unknown	Het
Celsr3	C	A	9: 108,703,559 (GRCm39)	S14*	probably null	Het
Cntrob	T	C	11: 69,213,782 (GRCm39)	T3A	possibly damaging	Het
Cracd	A	G	5: 77,004,923 (GRCm39)	E428G	unknown	Het
Csde1	T	C	3: 102,962,825 (GRCm39)	V738A	probably benign	Het
Dazap1	T	C	10: 80,118,999 (GRCm39)	Y230H	unknown	Het
Dip2a	A	G	10: 76,142,993 (GRCm39)	I264T	probably damaging	Het
Dleu7	C	A	14: 62,530,144 (GRCm39)	A86S	possibly damaging	Het
Dnmbp	T	A	19: 43,858,646 (GRCm39)	D132V	probably damaging	Het
Dppa4	T	C	16: 48,111,672 (GRCm39)	V219A	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Egr4	T	C	6: 85,489,292 (GRCm39)	Y256C	probably benign	Het
Ess2	A	T	16: 17,720,757 (GRCm39)	M363K	probably damaging	Het
Fam124a	A	G	14: 62,825,010 (GRCm39)	E168G	probably damaging	Het
Gata4	T	C	14: 63,478,545 (GRCm39)	Y18C	probably damaging	Het
Gckr	C	A	5: 31,457,934 (GRCm39)	A147D	probably damaging	Het
H1f8	G	A	6: 115,924,700 (GRCm39)	V69I	probably damaging	Het
Hook1	T	C	4: 95,901,560 (GRCm39)	L506P	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Larp1b	T	C	3: 40,916,103 (GRCm39)		probably null	Het
Ldhb	T	C	6: 142,439,862 (GRCm39)	E226G	probably damaging	Het
Lpar5	T	G	6: 125,058,948 (GRCm39)	V223G	probably damaging	Het
Lrrc37a	A	G	11: 103,394,330 (GRCm39)	V365A	probably benign	Het
Lrrtm3	T	C	10: 63,923,776 (GRCm39)	K464E	probably damaging	Het
Ly75	A	G	2: 60,158,285 (GRCm39)	I1000T	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,568,966 (GRCm39)	L35P	probably damaging	Het
Nptx2	G	A	5: 144,490,261 (GRCm39)	R230H	probably benign	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Or1e25	G	A	11: 73,493,864 (GRCm39)	V153I	probably benign	Het
Or4c111	A	G	2: 88,843,670 (GRCm39)	V246A	probably damaging	Het
Or8b1	T	G	9: 38,399,871 (GRCm39)	L182R	probably benign	Het
Padi6	G	A	4: 140,464,626 (GRCm39)	T201I	probably damaging	Het
Plscr4	C	T	9: 92,354,985 (GRCm39)	T13I	possibly damaging	Het
Ppp6r1	G	A	7: 4,636,112 (GRCm39)	A782V	probably benign	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,317,398 (GRCm39)	I722N	probably benign	Het
Slc17a4	A	G	13: 24,089,512 (GRCm39)	V135A	possibly damaging	Het
Slc30a5	A	G	13: 100,961,422 (GRCm39)		probably null	Het
Slc5a6	T	C	5: 31,197,746 (GRCm39)	Y321C	probably benign	Het
Spag7	A	T	11: 70,555,186 (GRCm39)	D178E	probably benign	Het
Swsap1	T	G	9: 21,867,172 (GRCm39)	S39A		Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tor1aip1	C	A	1: 155,893,320 (GRCm39)	G276*	probably null	Het
Usp47	G	A	7: 111,705,999 (GRCm39)	M1220I	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r35	A	G	7: 7,815,702 (GRCm39)	V489A	probably benign	Het
Wif1	T	C	10: 120,932,549 (GRCm39)	V309A	possibly damaging	Het
Xpo4	T	C	14: 57,842,630 (GRCm39)	N434D	probably damaging	Het
Zfp462	A	T	4: 55,009,423 (GRCm39)	H463L	probably benign	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
R8696:Rab18	UTSW	18	6,788,635 (GRCm39)	missense	probably damaging	1.00
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'- GCCGTAATCAGTAGAAACACATG -3'
(R):5'- TCACCTGGGAAAGCCAATGAG -3'

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

Posted On

2022-09-12