Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03260:Rab33a'

414790

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab33a

Ensembl Gene

ENSMUSG00000031104

Gene Name

RAB33A, member RAS oncogene family

Synonyms

Rabs10

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03260

Quality Score

Status

Chromosome

Chromosomal Location

47608162-47619109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47608545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 23 (E23G)

Ref Sequence

ENSEMBL: ENSMUSP00000033430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033430]

AlphaFold

P97950

Predicted Effect

probably benign
Transcript: ENSMUST00000033430
AA Change: E23G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033430
Gene: ENSMUSG00000031104
AA Change: E23G

Domain	Start	End	E-Value	Type
RAB	37	205	1.09e-93	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Ras-related small GTPases, which regulate membrane trafficking in organelles and transport vesicles. This protein has been reported to be expressed in lymphocytes and in regions of the mouse brain, specifically the cortex, hippocampus and also the olfactory bulb. The ortholog of this protein in rat has been characterized and may participate in anterograde trafficking of synaptophysin-positive vesicles to the plasma membrane. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	A	G	10: 20,187,071 (GRCm39)		probably benign	Het
Abca12	A	G	1: 71,323,258 (GRCm39)	L1608P	probably damaging	Het
Akr1b8	G	T	6: 34,340,394 (GRCm39)		probably benign	Het
Appbp2	A	G	11: 85,107,283 (GRCm39)	V69A	probably benign	Het
Ces1e	T	C	8: 93,950,545 (GRCm39)	N79D	probably benign	Het
Cldn34b3	A	G	X: 75,310,479 (GRCm39)	T16A	probably damaging	Het
Frmd4b	A	T	6: 97,373,185 (GRCm39)	F103Y	probably damaging	Het
Ifi47	T	C	11: 48,986,932 (GRCm39)	F233S	probably damaging	Het
Igkv8-30	A	T	6: 70,094,339 (GRCm39)	M24K	probably damaging	Het
Krt72	C	T	15: 101,686,708 (GRCm39)	A413T	probably damaging	Het
Lingo4	A	G	3: 94,309,250 (GRCm39)	T63A	probably benign	Het
Naa35	T	G	13: 59,775,699 (GRCm39)	S125A	probably benign	Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or6z7	A	T	7: 6,483,658 (GRCm39)	C166S	probably damaging	Het
Padi1	T	C	4: 140,555,505 (GRCm39)	H240R	probably benign	Het
Ppp1r12a	A	G	10: 108,097,106 (GRCm39)	T240A	probably benign	Het
Ppp2ca	A	G	11: 52,003,975 (GRCm39)	N44S	probably damaging	Het
Prg4	T	A	1: 150,331,378 (GRCm39)		probably benign	Het
Scarb2	G	T	5: 92,594,296 (GRCm39)	A422E	probably damaging	Het
Scn4b	A	T	9: 45,058,987 (GRCm39)	N86I	probably damaging	Het
Serpina1d	G	A	12: 103,730,108 (GRCm39)	T358I	probably damaging	Het
Slc12a3	T	A	8: 95,059,870 (GRCm39)	I172N	probably damaging	Het
Slc18a1	T	C	8: 69,527,766 (GRCm39)	E15G	probably benign	Het
Snx7	A	G	3: 117,575,942 (GRCm39)		probably benign	Het
Srpx	T	A	X: 9,921,987 (GRCm39)	K216*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Unc13c	A	G	9: 73,838,626 (GRCm39)	S742P	probably benign	Het
Vmn2r104	C	T	17: 20,263,083 (GRCm39)	C126Y	probably benign	Het
Vmn2r63	A	T	7: 42,578,616 (GRCm39)	N92K	probably damaging	Het

Other mutations in Rab33a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02399:Rab33a	APN	X	47,608,584 (GRCm39)	missense	probably damaging	1.00
R1616:Rab33a	UTSW	X	47,608,521 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02