Mutagenetix > Incidental Mutation

Incidental Mutation 'R9703:Rab36'

729668

Institutional Source

Beutler Lab

Gene Symbol

Rab36

Ensembl Gene

ENSMUSG00000020175

Gene Name

RAB36, member RAS oncogene family

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74872890-74890580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74886474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 151 (W151R)

Ref Sequence

ENSEMBL: ENSMUSP00000121693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020391] [ENSMUST00000139384] [ENSMUST00000146440] [ENSMUST00000147802]

AlphaFold

Q8CAM5

Predicted Effect

probably benign
Transcript: ENSMUST00000020391

SMART Domains

Protein: ENSMUSP00000020391
Gene: ENSMUSG00000020175

Domain	Start	End	E-Value	Type
RAB	59	224	6.4e-45	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175
AA Change: W117R

Domain	Start	End	E-Value	Type
Pfam:Arf	42	134	6.3e-8	PFAM
Pfam:Ras	74	134	1.1e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146440
AA Change: W151R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: W151R

Domain	Start	End	E-Value	Type
RAB	59	224	6.4e-45	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147802
AA Change: W151R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: W151R

Domain	Start	End	E-Value	Type
RAB	59	224	6.4e-45	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 41,248,971 (GRCm39)	N360K	probably damaging	Het
Aoc1l2	A	G	6: 48,909,629 (GRCm39)	T625A	probably benign	Het
Apob	T	A	12: 8,030,507 (GRCm39)	L82Q	probably damaging	Het
Arhgap30	T	G	1: 171,235,339 (GRCm39)	L571R	probably damaging	Het
Atg9a	C	T	1: 75,162,431 (GRCm39)	C493Y	probably damaging	Het
Brip1	T	C	11: 85,952,830 (GRCm39)	T984A	possibly damaging	Het
Btbd9	A	G	17: 30,749,200 (GRCm39)	V38A	possibly damaging	Het
Crocc2	C	A	1: 93,130,444 (GRCm39)	D908E	probably benign	Het
Crybg3	C	G	16: 59,375,939 (GRCm39)	A58P	probably damaging	Het
Cts7	T	C	13: 61,504,350 (GRCm39)	N71S	probably damaging	Het
Ddx46	A	G	13: 55,824,635 (GRCm39)	Y962C	probably damaging	Het
Dock10	G	A	1: 80,517,540 (GRCm39)	R1373C	probably damaging	Het
Dock9	A	T	14: 121,781,989 (GRCm39)	*2043R	probably null	Het
Efs	A	T	14: 55,156,871 (GRCm39)	V388E	possibly damaging	Het
Esyt1	C	T	10: 128,354,796 (GRCm39)		probably null	Het
Extl3	G	T	14: 65,292,103 (GRCm39)	R907S	probably damaging	Het
Fcgbp	G	A	7: 27,806,400 (GRCm39)	V2123M	probably damaging	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Golm1	A	T	13: 59,797,433 (GRCm39)	D137E	probably benign	Het
Grxcr2	T	C	18: 42,124,988 (GRCm39)	D140G	possibly damaging	Het
H2ac19	G	A	3: 96,147,557 (GRCm39)	R4C	probably benign	Het
Hrh1	G	A	6: 114,457,979 (GRCm39)	C420Y	probably benign	Het
Ints13	A	T	6: 146,459,063 (GRCm39)	L316Q	probably damaging	Het
Iws1	T	A	18: 32,212,738 (GRCm39)	D55E	probably damaging	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Klrc2	G	C	6: 129,633,407 (GRCm39)	S215*	probably null	Het
Muc5b	A	G	7: 141,425,535 (GRCm39)	T4727A	possibly damaging	Het
Nsd3	T	C	8: 26,131,228 (GRCm39)	S198P	probably benign	Het
Or2n1b	A	T	17: 38,459,856 (GRCm39)	I126F	possibly damaging	Het
Or6c214	A	T	10: 129,591,286 (GRCm39)	I11N	possibly damaging	Het
Ovch2	T	A	7: 107,383,777 (GRCm39)	I523F	probably damaging	Het
Pals1	T	A	12: 78,843,850 (GRCm39)	I18K	probably benign	Het
Pcdhb1	T	A	18: 37,399,019 (GRCm39)	D323E	probably damaging	Het
Pfkl	T	A	10: 77,826,142 (GRCm39)		probably null	Het
Pigc	T	A	1: 161,798,176 (GRCm39)	F53I	probably benign	Het
Pramel29	T	A	4: 143,939,510 (GRCm39)	D9V	probably damaging	Het
Prph2	G	A	17: 47,234,447 (GRCm39)	A339T	unknown	Het
Prrc2a	T	C	17: 35,378,320 (GRCm39)	K452E	unknown	Het
Sdk1	A	G	5: 142,100,283 (GRCm39)	T1438A	possibly damaging	Het
Slc25a17	A	T	15: 81,224,193 (GRCm39)	I55K	probably damaging	Het
Smg1	A	T	7: 117,739,744 (GRCm39)	I3401N	possibly damaging	Het
Smpd3	T	A	8: 106,991,713 (GRCm39)	H280L	probably damaging	Het
Srsf10	A	G	4: 135,591,153 (GRCm39)	H202R	probably benign	Het
Swap70	C	T	7: 109,872,512 (GRCm39)	R376C	probably damaging	Het
Syde1	G	T	10: 78,421,557 (GRCm39)	L665M	probably damaging	Het
Tha1	A	G	11: 117,761,863 (GRCm39)	V126A	probably damaging	Het
Tln2	T	C	9: 67,293,938 (GRCm39)	H230R	probably damaging	Het
Tnc	G	A	4: 63,889,412 (GRCm39)	A1698V	probably benign	Het
Twist2	C	A	1: 91,729,744 (GRCm39)	S132R	probably damaging	Het
Ubr1	C	T	2: 120,732,092 (GRCm39)	C1170Y	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het

Other mutations in Rab36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Rab36	APN	10	74,884,298 (GRCm39)	missense	probably damaging	1.00
IGL01554:Rab36	APN	10	74,886,520 (GRCm39)	missense	possibly damaging	0.50
IGL02197:Rab36	APN	10	74,887,874 (GRCm39)	missense	probably damaging	0.96
R2022:Rab36	UTSW	10	74,888,306 (GRCm39)	missense	probably benign	0.13
R2907:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R2991:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3012:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3033:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3034:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3035:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3036:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3440:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3686:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3687:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3688:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4398:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4426:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4427:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4433:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4456:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4457:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4467:Rab36	UTSW	10	74,887,875 (GRCm39)	nonsense	probably null
R4689:Rab36	UTSW	10	74,877,765 (GRCm39)	critical splice donor site	probably null
R5043:Rab36	UTSW	10	74,886,837 (GRCm39)	missense	probably benign	0.00
R5568:Rab36	UTSW	10	74,888,311 (GRCm39)	missense	probably benign
R8354:Rab36	UTSW	10	74,884,291 (GRCm39)	missense	probably damaging	1.00
R8523:Rab36	UTSW	10	74,888,335 (GRCm39)	missense	probably benign
R9594:Rab36	UTSW	10	74,887,873 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCAGGCCCTATGAAAGAGAC -3'
(R):5'- CAGTATCATTCGGTGTCCCTCG -3'

Sequencing Primer
(F):5'- AGGTCTCACAGTAGGAGTCTTCAC -3'
(R):5'- TCGAGTTGGCTGCAAACAC -3'

Posted On

2022-10-06