Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02193:Rab32'

283983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab32

Ensembl Gene

ENSMUSG00000019832

Gene Name

RAB32, member RAS oncogene family

Synonyms

2810011A17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

IGL02193

Quality Score

Status

Chromosome

Chromosomal Location

10420783-10433951 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 10422199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]

AlphaFold

Q9CZE3

Predicted Effect

probably benign
Transcript: ENSMUST00000019974

SMART Domains

Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832

Domain	Start	End	E-Value	Type
RAB	24	193	3.44e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220018

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,572,815 (GRCm39)	L812P	probably damaging	Het
Ankmy1	A	T	1: 92,808,767 (GRCm39)	F714I	probably benign	Het
Armh3	G	T	19: 45,961,323 (GRCm39)	T118K	probably benign	Het
Celf5	A	G	10: 81,306,507 (GRCm39)	I52T	probably damaging	Het
Clstn1	T	C	4: 149,729,809 (GRCm39)	V771A	probably benign	Het
Enpep	G	T	3: 129,075,336 (GRCm39)	L661I	possibly damaging	Het
Faxc	A	G	4: 21,993,486 (GRCm39)	N377D	possibly damaging	Het
Gabrb3	A	G	7: 57,442,264 (GRCm39)	E190G	probably damaging	Het
Gm4787	C	T	12: 81,425,302 (GRCm39)	M285I	probably benign	Het
Gm5900	A	C	7: 104,599,231 (GRCm39)		noncoding transcript	Het
Gm6133	A	G	18: 78,393,308 (GRCm39)	N101D	probably benign	Het
Gtse1	A	G	15: 85,746,531 (GRCm39)	K116E	probably benign	Het
H2-D1	T	G	17: 35,484,785 (GRCm39)	H215Q	possibly damaging	Het
Hdc	A	T	2: 126,443,700 (GRCm39)		probably benign	Het
Hnrnph3	T	C	10: 62,853,056 (GRCm39)	H195R	probably damaging	Het
Ipo8	T	C	6: 148,678,782 (GRCm39)	T939A	probably damaging	Het
Irag1	A	T	7: 110,498,162 (GRCm39)	L411Q	probably damaging	Het
Krt79	G	T	15: 101,848,340 (GRCm39)	P104T	possibly damaging	Het
Lama4	A	T	10: 38,918,670 (GRCm39)	M384L	probably benign	Het
Lamb2	T	G	9: 108,366,559 (GRCm39)	D1590E	probably benign	Het
Ly6i	A	T	15: 74,854,879 (GRCm39)	C10*	probably null	Het
Mamdc4	G	A	2: 25,454,458 (GRCm39)	A1082V	probably benign	Het
Nlrp4a	T	A	7: 26,159,117 (GRCm39)	L799H	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or2y13	C	T	11: 49,414,571 (GRCm39)	T7I	possibly damaging	Het
Or5al6	A	T	2: 85,977,059 (GRCm39)	N6K	probably benign	Het
Or6b1	T	C	6: 42,815,753 (GRCm39)		probably benign	Het
Otud6b	T	C	4: 14,812,543 (GRCm39)	H268R	probably damaging	Het
Peg3	T	C	7: 6,714,927 (GRCm39)	E138G	probably damaging	Het
Phactr1	T	C	13: 42,863,176 (GRCm39)		probably benign	Het
Psmf1	A	G	2: 151,562,733 (GRCm39)		probably benign	Het
Rfwd3	C	T	8: 111,999,647 (GRCm39)		probably benign	Het
Scart2	A	G	7: 139,828,913 (GRCm39)	T191A	probably benign	Het
Slc25a3	A	G	10: 90,953,977 (GRCm39)	V245A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc1	A	G	18: 9,992,863 (GRCm39)	D545G	probably benign	Het
Tpst1	T	A	5: 130,130,737 (GRCm39)	M69K	possibly damaging	Het
Trank1	T	C	9: 111,196,344 (GRCm39)	V1456A	probably benign	Het
Trappc6a	T	A	7: 19,249,144 (GRCm39)	C124S	possibly damaging	Het
Tsc22d2	T	A	3: 58,367,628 (GRCm39)		probably benign	Het

Other mutations in Rab32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Rab32	APN	10	10,426,556 (GRCm39)	missense	probably benign	0.07
IGL01061:Rab32	APN	10	10,433,618 (GRCm39)	missense	probably damaging	0.99
IGL01071:Rab32	APN	10	10,433,591 (GRCm39)	missense	probably damaging	1.00
IGL02814:Rab32	APN	10	10,422,171 (GRCm39)	missense	probably benign
IGL03233:Rab32	APN	10	10,422,057 (GRCm39)	nonsense	probably null
A5278:Rab32	UTSW	10	10,433,717 (GRCm39)	missense	possibly damaging	0.94
R0135:Rab32	UTSW	10	10,426,584 (GRCm39)	missense	probably damaging	1.00
R0514:Rab32	UTSW	10	10,426,640 (GRCm39)	missense	probably damaging	1.00
R0826:Rab32	UTSW	10	10,426,611 (GRCm39)	missense	possibly damaging	0.95
R1406:Rab32	UTSW	10	10,426,637 (GRCm39)	missense	probably damaging	1.00
R1406:Rab32	UTSW	10	10,426,637 (GRCm39)	missense	probably damaging	1.00
R2045:Rab32	UTSW	10	10,426,577 (GRCm39)	missense	probably damaging	1.00
R4701:Rab32	UTSW	10	10,426,598 (GRCm39)	missense	probably benign	0.04
R6665:Rab32	UTSW	10	10,433,846 (GRCm39)	start gained	probably benign
R7880:Rab32	UTSW	10	10,422,159 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16