Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03233:Rab32'

413986

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 #

IGL03233

Quality Score

Status

Chromosome

Chromosomal Location

10420783-10433951 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 10422057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 221 (Q221*)

Ref Sequence

ENSEMBL: ENSMUSP00000019974 (fasta)

Gene Model

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

AlphaFold

Q9CZE3

Predicted Effect

probably null
Transcript: ENSMUST00000019974
AA Change: Q221*

SMART Domains

Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: Q221*

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	T	C	4: 86,260,357 (GRCm39)	F856S	probably damaging	Het
Ak7	A	G	12: 105,727,739 (GRCm39)	D457G	probably damaging	Het
Ankrd26	G	T	6: 118,512,107 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,220,116 (GRCm39)	P405T	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Atg4c	A	T	4: 99,117,740 (GRCm39)	Y343F	probably benign	Het
Cab39	T	A	1: 85,770,044 (GRCm39)	M175K	probably benign	Het
Cadps2	T	C	6: 23,263,600 (GRCm39)	E1257G	probably benign	Het
Ces1d	A	G	8: 93,921,707 (GRCm39)	Y19H	probably benign	Het
Cst6	T	C	19: 5,399,289 (GRCm39)	D25G	probably damaging	Het
Cyp4a30b	A	T	4: 115,316,167 (GRCm39)	T298S	probably benign	Het
Dgkk	T	C	X: 6,770,077 (GRCm39)	L352P	probably damaging	Het
Dnai7	A	T	6: 145,127,611 (GRCm39)	Y433N	probably damaging	Het
Dync2h1	A	C	9: 7,101,525 (GRCm39)	F482V	possibly damaging	Het
Esco1	A	G	18: 10,574,877 (GRCm39)	W208R	probably damaging	Het
Fbn2	T	C	18: 58,235,449 (GRCm39)	D676G	probably benign	Het
Foxp3	T	C	X: 7,453,662 (GRCm39)		probably benign	Het
Gpr108	T	A	17: 57,552,042 (GRCm39)	I123F	probably benign	Het
Gsdmc4	A	T	15: 63,774,709 (GRCm39)	V24E	probably damaging	Het
Jam3	C	A	9: 27,013,217 (GRCm39)	V118F	probably damaging	Het
Kif23	T	A	9: 61,833,735 (GRCm39)	I489F	probably benign	Het
Lama3	T	A	18: 12,614,095 (GRCm39)	V1288D	probably damaging	Het
Mark2	G	T	19: 7,262,091 (GRCm39)	H308N	possibly damaging	Het
Mms19	T	C	19: 41,935,352 (GRCm39)		probably null	Het
Neb	A	T	2: 52,198,313 (GRCm39)	I477N	possibly damaging	Het
Npm1	G	T	11: 33,106,717 (GRCm39)	Q204K	probably benign	Het
Nsun5	G	A	5: 135,404,299 (GRCm39)	V369M	probably damaging	Het
Or7a39	C	A	10: 78,715,406 (GRCm39)	Y133*	probably null	Het
Pcdhb13	T	A	18: 37,577,318 (GRCm39)	N565K	probably damaging	Het
Pla2r1	A	G	2: 60,258,924 (GRCm39)	F1155L	possibly damaging	Het
Pus10	T	A	11: 23,662,241 (GRCm39)	W304R	probably damaging	Het
Rlf	A	G	4: 121,039,797 (GRCm39)		probably benign	Het
Robo1	A	T	16: 72,767,081 (GRCm39)	I418F	probably damaging	Het
Slc44a2	T	C	9: 21,259,918 (GRCm39)	I642T	possibly damaging	Het
Ston2	T	A	12: 91,614,627 (GRCm39)	T594S	probably damaging	Het
Szt2	T	C	4: 118,229,726 (GRCm39)	T2802A	unknown	Het
Tshz3	T	A	7: 36,469,504 (GRCm39)	Y498N	probably damaging	Het
Zfp280b	T	A	10: 75,875,603 (GRCm39)	I494N	probably damaging	Het
Zfp281	A	G	1: 136,554,567 (GRCm39)	Q515R	possibly damaging	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
IGL02193:Rab32	APN	10	10,422,199 (GRCm39)	splice site	probably benign
IGL02814:Rab32	APN	10	10,422,171 (GRCm39)	missense	probably benign
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

2016-08-02