Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03275:Rab10'

415389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab10

Ensembl Gene

ENSMUSG00000020671

Gene Name

RAB10, member RAS oncogene family

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

IGL03275

Quality Score

Status

Chromosome

Chromosomal Location

3297428-3359969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3306959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 79 (Y79N)

Ref Sequence

ENSEMBL: ENSMUSP00000021001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021001]

AlphaFold

P61027

Predicted Effect

probably damaging
Transcript: ENSMUST00000021001
AA Change: Y79N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021001
Gene: ENSMUSG00000020671
AA Change: Y79N

Domain	Start	End	E-Value	Type
RAB	10	173	1.43e-106	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	A	8: 73,198,968 (GRCm39)	L125H	probably damaging	Het
2210408I21Rik	A	T	13: 77,446,674 (GRCm39)	T816S	possibly damaging	Het
Aspm	T	A	1: 139,415,033 (GRCm39)	I1438N	probably damaging	Het
Bicdl1	A	G	5: 115,869,219 (GRCm39)	Y134H	probably damaging	Het
Btnl1	A	T	17: 34,604,486 (GRCm39)	K422N	probably damaging	Het
Ccdc158	T	A	5: 92,777,491 (GRCm39)	I941F	probably benign	Het
Crnn	A	G	3: 93,056,725 (GRCm39)	K504E	possibly damaging	Het
Csmd1	T	A	8: 16,207,106 (GRCm39)	I1308L	probably benign	Het
Cwf19l1	T	C	19: 44,111,696 (GRCm39)	M246V	probably benign	Het
Desi1	T	A	15: 81,887,963 (GRCm39)	I36F	probably damaging	Het
Foxf2	A	G	13: 31,810,514 (GRCm39)	N151S	probably damaging	Het
Fryl	A	G	5: 73,305,376 (GRCm39)	V35A	possibly damaging	Het
Ftdc1	T	C	16: 58,436,119 (GRCm39)	Y68C	probably damaging	Het
Gabrg3	T	C	7: 56,423,095 (GRCm39)	Y201C	probably damaging	Het
Grb10	T	A	11: 11,883,591 (GRCm39)	T500S	possibly damaging	Het
Hsdl2	A	G	4: 59,617,747 (GRCm39)	*371W	probably null	Het
Irf7	C	A	7: 140,845,059 (GRCm39)	R49L	probably damaging	Het
Itpr2	T	C	6: 146,060,375 (GRCm39)		probably benign	Het
Jam3	T	C	9: 27,012,545 (GRCm39)	T201A	probably damaging	Het
Msantd5f6	T	A	4: 73,321,653 (GRCm39)	R127S	possibly damaging	Het
Mst1	T	C	9: 107,961,587 (GRCm39)	S606P	possibly damaging	Het
Or5p59	T	A	7: 107,702,815 (GRCm39)	C100S	probably damaging	Het
Otog	A	G	7: 45,955,654 (GRCm39)	E2800G	probably damaging	Het
Ptpro	C	T	6: 137,427,004 (GRCm39)	P292S	probably damaging	Het
Rc3h1	T	C	1: 160,787,125 (GRCm39)		probably null	Het
Slc2a3	C	T	6: 122,713,701 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,782,689 (GRCm39)	Y542H	possibly damaging	Het
Tas2r110	T	C	6: 132,845,061 (GRCm39)	F31L	probably damaging	Het
Thoc2l	T	A	5: 104,666,143 (GRCm39)	C222S	probably benign	Het
Ttn	A	G	2: 76,547,688 (GRCm39)	S32161P	probably damaging	Het
Ttn	A	G	2: 76,775,451 (GRCm39)	S1864P	probably damaging	Het
Vmn1r228	A	G	17: 20,997,104 (GRCm39)	I138T	probably damaging	Het
Vmn2r10	T	A	5: 109,151,243 (GRCm39)	T124S	probably benign	Het

Other mutations in Rab10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Rab10	APN	12	3,303,334 (GRCm39)	missense	probably benign	0.01
IGL03151:Rab10	APN	12	3,299,812 (GRCm39)	missense	probably benign	0.05
R0122:Rab10	UTSW	12	3,359,357 (GRCm39)	missense	probably damaging	1.00
R0494:Rab10	UTSW	12	3,302,723 (GRCm39)	splice site	probably null
R0541:Rab10	UTSW	12	3,314,743 (GRCm39)	missense	probably damaging	1.00
R7273:Rab10	UTSW	12	3,306,891 (GRCm39)	missense	probably benign	0.01
R9696:Rab10	UTSW	12	3,306,947 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02