Mutagenetix > Incidental Mutation

Incidental Mutation 'R8330:Rab31'

644330

Institutional Source

Beutler Lab

Gene Symbol

Rab31

Ensembl Gene

ENSMUSG00000056515

Gene Name

RAB31, member RAS oncogene family

Synonyms

1700093E07Rik

MMRRC Submission

067799-MU

Accession Numbers

Essential gene?

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

Stock #

R8330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65958724-66079747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66003269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 126 (I126N)

Ref Sequence

ENSEMBL: ENSMUSP00000068195 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070673
AA Change: I126N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068195
Gene: ENSMUSG00000056515
AA Change: I126N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,381,750 (GRCm39)	D1405V	probably damaging	Het
Acsl6	A	G	11: 54,236,034 (GRCm39)	I514V	probably benign	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Ahnak	T	C	19: 8,987,026 (GRCm39)	V2770A	possibly damaging	Het
B4galt1	A	G	4: 40,812,787 (GRCm39)	V246A	probably damaging	Het
Cdr2l	T	C	11: 115,284,939 (GRCm39)	V425A	probably benign	Het
Celsr1	T	A	15: 85,816,501 (GRCm39)	D1814V	probably damaging	Het
Exoc2	A	G	13: 31,061,556 (GRCm39)	V495A	probably benign	Het
Ifi47	A	G	11: 48,986,637 (GRCm39)	T135A	possibly damaging	Het
Klhl23	T	C	2: 69,654,496 (GRCm39)	V122A	probably damaging	Het
Klri2	T	A	6: 129,710,694 (GRCm39)	N142Y	probably damaging	Het
Kmt2c	A	T	5: 25,509,692 (GRCm39)	F3161L	probably null	Het
Mgl2	A	G	11: 70,026,785 (GRCm39)	T144A	probably benign	Het
Mpp3	T	C	11: 101,899,453 (GRCm39)	E356G	probably benign	Het
Neb	T	G	2: 52,117,420 (GRCm39)	T872P		Het
Nek9	A	G	12: 85,376,727 (GRCm39)	M218T	probably damaging	Het
Or10a49	A	T	7: 108,468,046 (GRCm39)	L105H	probably damaging	Het
Or4f14	A	G	2: 111,742,724 (GRCm39)	F184L	probably benign	Het
Or51k2	T	G	7: 103,596,610 (GRCm39)	I279S	possibly damaging	Het
Pabpc1l	G	A	2: 163,869,568 (GRCm39)	G123R	probably damaging	Het
Parp3	T	C	9: 106,352,069 (GRCm39)		probably null	Het
Pcdhga1	A	T	18: 37,796,376 (GRCm39)	Y460F	probably benign	Het
Pclo	A	G	5: 14,725,311 (GRCm39)	T1390A	unknown	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex6	T	C	17: 47,023,060 (GRCm39)	L212P	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppib	T	C	9: 65,968,755 (GRCm39)	F48L	probably damaging	Het
Psme4	A	G	11: 30,793,583 (GRCm39)	E1228G	probably benign	Het
Ptpdc1	G	T	13: 48,751,390 (GRCm39)	H37N	probably benign	Het
Rsad2	A	T	12: 26,506,405 (GRCm39)	V5E	probably benign	Het
S1pr3	G	A	13: 51,573,173 (GRCm39)	S118N	probably damaging	Het
Sbsn	T	A	7: 30,451,366 (GRCm39)	I127N	possibly damaging	Het
Scart2	C	T	7: 139,876,231 (GRCm39)	Q568*	probably null	Het
Selenoh	G	T	2: 84,500,691 (GRCm39)	Q50K	probably damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Stkld1	A	T	2: 26,841,515 (GRCm39)	I487L	probably benign	Het
Tep1	T	A	14: 51,085,162 (GRCm39)	I874F	possibly damaging	Het
Tmem43	T	C	6: 91,455,746 (GRCm39)	V119A	possibly damaging	Het
Vmn2r80	T	A	10: 79,007,550 (GRCm39)	W509R	probably damaging	Het
Xpr1	A	C	1: 155,189,001 (GRCm39)	Y290*	probably null	Het
Zfp160	T	C	17: 21,246,313 (GRCm39)	C288R	probably damaging	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het

Other mutations in Rab31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02445:Rab31	APN	17	66,028,998 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GGGGCCATCAGTTAAATCGTTAC -3'
(R):5'- CATCTTAGCTAATGTTAACCCCTAC -3'

Sequencing Primer
(F):5'- TCAGATAAGTTGCGTACACATCAC -3'
(R):5'- GCTAATGTTAACCCCTACAAAATGTC -3'

Posted On

2020-09-02