Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01554:Rab36'

90662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab36

Ensembl Gene

ENSMUSG00000020175

Gene Name

RAB36, member RAS oncogene family

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01554

Quality Score

Status

Chromosome

Chromosomal Location

75037058-75054748 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75050688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 166 (I166T)

Ref Sequence

ENSEMBL: ENSMUSP00000119399 (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

noncoding transcript
Transcript: ENSMUST00000122815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136944

Predicted Effect

probably benign
Transcript: ENSMUST00000139384
AA Change: I132T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175
AA Change: I132T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142507

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146440
AA Change: I166T

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: I166T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147802
AA Change: I166T

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: I166T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151432

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	G	1: 134,389,958	N156S	probably damaging	Het
Abca8a	T	C	11: 110,042,166	I1211V	probably benign	Het
Adgre4	A	G	17: 55,817,090	S497G	probably damaging	Het
Ankrd55	T	C	13: 112,323,067	M65T	possibly damaging	Het
Ermard	A	G	17: 15,051,593	D338G	possibly damaging	Het
Espl1	T	C	15: 102,313,225	L983P	probably damaging	Het
Ext2	A	C	2: 93,811,949	L192V	probably damaging	Het
Fam189b	A	G	3: 89,185,581	T257A	probably damaging	Het
Fam83b	T	A	9: 76,502,121	Y241F	probably benign	Het
Fbxl12	G	A	9: 20,638,919	P170S	possibly damaging	Het
Fsip2	C	A	2: 82,977,278	P1314T	possibly damaging	Het
Greb1l	A	G	18: 10,522,144	R747G	probably benign	Het
Hspa1a	G	T	17: 34,970,524	P468T	probably damaging	Het
Lamb1	T	C	12: 31,306,977	C1028R	probably damaging	Het
Lcn8	C	T	2: 25,654,186	A40V	possibly damaging	Het
Lmbrd2	A	G	15: 9,165,819	Y260C	possibly damaging	Het
Mex3d	G	T	10: 80,382,035	N449K	possibly damaging	Het
Ncam2	A	G	16: 81,512,935	K438E	possibly damaging	Het
Nudt7	A	G	8: 114,147,885		probably benign	Het
Nup214	C	A	2: 32,051,072	S39*	probably null	Het
Olfr821	T	C	10: 130,034,183	S186P	probably damaging	Het
Olfr866	T	C	9: 20,027,408	I177V	possibly damaging	Het
Opn5	A	G	17: 42,607,198	S58P	probably damaging	Het
Pcsk1	T	A	13: 75,132,307	N750K	probably benign	Het
Pdzrn3	T	C	6: 101,150,541	N1055D	probably damaging	Het
Phf2	T	A	13: 48,805,879	K884*	probably null	Het
Prkdc	A	G	16: 15,652,302	N191S	probably benign	Het
Prpf8	A	T	11: 75,495,646	Q987L	probably damaging	Het
Prrc2c	G	A	1: 162,710,786	P425L	probably damaging	Het
Rab3gap1	G	T	1: 127,928,008	L461F	possibly damaging	Het
Rnls	A	T	19: 33,391,099	Y27N	possibly damaging	Het
Sncaip	A	T	18: 52,868,934	I176F	possibly damaging	Het
Tagap	G	A	17: 7,932,948	G322S	probably benign	Het
Tas2r130	C	T	6: 131,630,083	A250T	probably benign	Het
Tgs1	A	G	4: 3,593,632	S507G	probably null	Het
Ttn	T	C	2: 76,875,712		probably benign	Het
Zp2	T	C	7: 120,138,325	K246E	possibly damaging	Het

Other mutations in Rab36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Rab36	APN	10	75048466	missense	probably damaging	1.00
IGL02197:Rab36	APN	10	75052042	missense	probably damaging	0.96
R2022:Rab36	UTSW	10	75052474	missense	probably benign	0.13
R2907:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R2991:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3012:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3033:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3034:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3035:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3036:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3440:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3686:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3687:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R3688:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4398:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4426:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4427:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4433:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4456:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4457:Rab36	UTSW	10	75044496	missense	probably damaging	1.00
R4467:Rab36	UTSW	10	75052043	nonsense	probably null
R4689:Rab36	UTSW	10	75041933	critical splice donor site	probably null
R5043:Rab36	UTSW	10	75051005	missense	probably benign	0.00
R5568:Rab36	UTSW	10	75052479	missense	probably benign
R8354:Rab36	UTSW	10	75048459	missense	probably damaging	1.00
R8523:Rab36	UTSW	10	75052503	missense	probably benign
R9594:Rab36	UTSW	10	75052041	missense	probably damaging	0.96
R9703:Rab36	UTSW	10	75050642	missense	possibly damaging	0.81

Posted On

2013-12-09