Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Rab32'

52031

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

Genbank: NM_026405; MGI: 1915094

Is this an essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

10545002-10558265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10557874 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 72 (L72P)

Ref Sequence

ENSEMBL: ENSMUSP00000152210 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019974
AA Change: L72P

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: L72P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220018
AA Change: L72P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kdelc2	A	G	9: 53,388,587		probably benign	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Myh1	T	A	11: 67,217,862	M1368K	probably benign	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Snx27	T	A	3: 94,528,980		probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tgm5	A	T	2: 121,071,496	C231S	probably benign	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ttll8	G	A	15: 88,917,250	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	possibly damaging	Het

Other mutations in Rab32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Rab32	APN	10	10550812	missense	probably benign	0.07
IGL01071:Rab32	APN	10	10557847	missense	probably damaging	1.00
IGL02193:Rab32	APN	10	10546455	splice site	probably benign
IGL02814:Rab32	APN	10	10546427	missense	probably benign
IGL03233:Rab32	APN	10	10546313	nonsense	probably null
A5278:Rab32	UTSW	10	10557973	missense	possibly damaging	0.94
R0135:Rab32	UTSW	10	10550840	missense	probably damaging	1.00
R0514:Rab32	UTSW	10	10550896	missense	probably damaging	1.00
R0826:Rab32	UTSW	10	10550867	missense	possibly damaging	0.95
R1406:Rab32	UTSW	10	10550893	missense	probably damaging	1.00
R1406:Rab32	UTSW	10	10550893	missense	probably damaging	1.00
R2045:Rab32	UTSW	10	10550833	missense	probably damaging	1.00
R4701:Rab32	UTSW	10	10550854	missense	probably benign	0.04
R6665:Rab32	UTSW	10	10558102	start gained	probably benign
R7880:Rab32	UTSW	10	10546415	missense	probably damaging	1.00

Posted On

2013-06-21