Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Rab31'

293575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab31

Ensembl Gene

ENSMUSG00000056515

Gene Name

RAB31, member RAS oncogene family

Synonyms

1700093E07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

65958724-66079747 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 66028998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070673]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000070673

SMART Domains

Protein: ENSMUSP00000068195
Gene: ENSMUSG00000056515

Domain	Start	End	E-Value	Type
RAB	7	170	9.87e-69	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,383,198 (GRCm39)	T2127M	probably damaging	Het
Acp2	A	G	2: 91,036,606 (GRCm39)	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,798 (GRCm39)	L801P	probably damaging	Het
Adcy10	T	G	1: 165,398,313 (GRCm39)	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,705,524 (GRCm39)	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,274,318 (GRCm39)	Y531C	probably benign	Het
Atm	T	C	9: 53,365,630 (GRCm39)	I2590V	probably benign	Het
Brme1	T	A	8: 84,886,137 (GRCm39)	M31K	probably benign	Het
Cblb	T	C	16: 51,986,668 (GRCm39)	L485P	probably damaging	Het
Col4a1	T	C	8: 11,283,911 (GRCm39)		probably benign	Het
Coprs	T	C	8: 13,935,797 (GRCm39)	K74R	possibly damaging	Het
Cul3	A	T	1: 80,281,886 (GRCm39)	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,033,463 (GRCm39)	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,735,456 (GRCm39)	V402L	probably damaging	Het
Disc1	T	A	8: 125,875,142 (GRCm39)		probably benign	Het
Dsg4	C	T	18: 20,579,307 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,963 (GRCm39)	Y442S	probably damaging	Het
Dtl	C	T	1: 191,290,172 (GRCm39)		probably null	Het
Ezh1	A	C	11: 101,101,513 (GRCm39)	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481 (GRCm39)	G100D	probably damaging	Het
Herc1	T	A	9: 66,340,764 (GRCm39)	H1704Q	possibly damaging	Het
Itprid2	G	A	2: 79,487,842 (GRCm39)	E642K	probably damaging	Het
Kif26a	T	C	12: 112,140,177 (GRCm39)	S469P	probably damaging	Het
Lefty1	T	C	1: 180,765,242 (GRCm39)	M270T	probably benign	Het
Nap1l3	A	T	X: 121,305,752 (GRCm39)	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,387,889 (GRCm39)		probably benign	Het
Or14j5	A	T	17: 38,162,008 (GRCm39)	H175L	probably damaging	Het
Or4p18	G	A	2: 88,232,456 (GRCm39)	T274I	possibly damaging	Het
Or8b55	T	C	9: 38,726,901 (GRCm39)	I34T	possibly damaging	Het
Otol1	A	T	3: 69,935,367 (GRCm39)	D453V	probably damaging	Het
Papolb	G	A	5: 142,514,480 (GRCm39)	H388Y	probably benign	Het
Ppp1r10	A	G	17: 36,237,094 (GRCm39)	E128G	probably damaging	Het
Prss12	T	A	3: 123,280,669 (GRCm39)	D451E	probably damaging	Het
Psmc1	T	C	12: 100,081,087 (GRCm39)		probably benign	Het
Pygo1	T	A	9: 72,833,222 (GRCm39)	I10N	probably benign	Het
Ret	G	A	6: 118,158,860 (GRCm39)	T184I	probably damaging	Het
Rhd	A	T	4: 134,611,481 (GRCm39)	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,834,682 (GRCm39)		probably benign	Het
Sec16a	A	G	2: 26,312,052 (GRCm39)	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,507,051 (GRCm39)	D335E	possibly damaging	Het
Taf6	A	G	5: 138,182,756 (GRCm39)		probably benign	Het
Tnk2	T	C	16: 32,494,408 (GRCm39)	V442A	probably benign	Het
Virma	A	G	4: 11,527,029 (GRCm39)	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,452,848 (GRCm39)	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,227,393 (GRCm39)		noncoding transcript	Het
Zfp473	A	G	7: 44,383,107 (GRCm39)	C408R	probably damaging	Het

Other mutations in Rab31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02493:Rab31	APN	17	66,024,547 (GRCm39)	missense	possibly damaging	0.83
IGL03395:Rab31	APN	17	66,003,362 (GRCm39)	missense	probably benign	0.02
R1967:Rab31	UTSW	17	66,079,499 (GRCm39)	critical splice donor site	probably null
R4343:Rab31	UTSW	17	65,961,414 (GRCm39)	missense	probably benign	0.00
R4810:Rab31	UTSW	17	66,028,998 (GRCm39)	splice site	probably null
R7090:Rab31	UTSW	17	66,005,012 (GRCm39)	missense	possibly damaging	0.92
R7228:Rab31	UTSW	17	66,024,548 (GRCm39)	missense	probably benign	0.00
R8056:Rab31	UTSW	17	66,024,503 (GRCm39)	missense	probably benign	0.33
R8202:Rab31	UTSW	17	65,974,881 (GRCm39)	missense	probably damaging	1.00
R8330:Rab31	UTSW	17	66,003,269 (GRCm39)	missense	possibly damaging	0.94
R8708:Rab31	UTSW	17	65,974,859 (GRCm39)	critical splice donor site	probably benign
R8796:Rab31	UTSW	17	66,079,529 (GRCm39)	missense	possibly damaging	0.68

Posted On

2015-04-16