Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00540:Rab25'

13236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab25

Ensembl Gene

ENSMUSG00000008601

Gene Name

RAB25, member RAS oncogene family

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL00540

Quality Score

Status

Chromosome

Chromosomal Location

88449335-88455586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88452546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 21 (S21P)

Ref Sequence

ENSEMBL: ENSMUSP00000008745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008745] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000131775] [ENSMUST00000172699]

AlphaFold

Q9WTL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000008745
AA Change: S21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601
AA Change: S21P

Domain	Start	End	E-Value	Type
RAB	13	176	2.1e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029698

SMART Domains

Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

Domain	Start	End	E-Value	Type
Robl_LC7	7	95	2.65e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119002

SMART Domains

Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

Domain	Start	End	E-Value	Type
Blast:Robl_LC7	1	22	2e-8	BLAST
PDB:3CPT\|B	1	52	2e-32	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000131775

SMART Domains

Protein: ENSMUSP00000120505
Gene: ENSMUSG00000008601

Domain	Start	End	E-Value	Type
RAB	3	122	6.15e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156421

Predicted Effect

probably benign
Transcript: ENSMUST00000172699

SMART Domains

Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	37	51	N/A	INTRINSIC
low complexity region	53	110	N/A	INTRINSIC
KH	130	198	3.35e-9	SMART
KH	222	289	4.59e-16	SMART
low complexity region	406	415	N/A	INTRINSIC
RING	469	508	1.39e-3	SMART

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 is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: On a 129 background, virgin female homozygotes older than 10 months of age develop vaginal cancer while both male and female homozygotes develop distal esophageal stricture due to squamous cell hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	T	13: 19,304,776 (GRCm39)	G398V	probably damaging	Het
C2cd3	T	G	7: 100,040,335 (GRCm39)	S301R	probably benign	Het
Calr	G	A	8: 85,571,373 (GRCm39)	P178S	possibly damaging	Het
Cbll1	G	T	12: 31,537,940 (GRCm39)	P271T	probably damaging	Het
Ccl7	A	T	11: 81,937,888 (GRCm39)	D89V	probably damaging	Het
Cd82	T	A	2: 93,251,004 (GRCm39)	I179F	probably null	Het
Cdh10	A	T	15: 18,964,081 (GRCm39)	D81V	probably damaging	Het
Cenpo	A	G	12: 4,266,685 (GRCm39)	V141A	probably benign	Het
Dnah11	A	G	12: 118,150,657 (GRCm39)	V367A	probably benign	Het
Fam161b	T	C	12: 84,408,525 (GRCm39)		probably benign	Het
Gemin5	G	A	11: 58,051,644 (GRCm39)	P268S	probably damaging	Het
Gm5965	T	A	16: 88,575,228 (GRCm39)	C134S	probably damaging	Het
Icam4	C	A	9: 20,941,382 (GRCm39)	R174S	possibly damaging	Het
Kdm5a	T	A	6: 120,362,680 (GRCm39)		probably null	Het
Klhl10	A	G	11: 100,336,244 (GRCm39)	K77R	probably benign	Het
Mrgprb1	A	T	7: 48,097,291 (GRCm39)	V207E	probably damaging	Het
Myh10	A	G	11: 68,681,534 (GRCm39)	N1067S	probably benign	Het
Myo1b	T	C	1: 51,803,113 (GRCm39)	E856G	possibly damaging	Het
Nbea	T	C	3: 55,535,914 (GRCm39)	Y2890C	probably damaging	Het
Pcdhb16	T	C	18: 37,612,851 (GRCm39)	S604P	probably damaging	Het
Pelp1	A	T	11: 70,285,638 (GRCm39)	D743E	possibly damaging	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Spata31e2	A	G	1: 26,724,058 (GRCm39)	I374T	probably benign	Het
Sspo	G	A	6: 48,475,147 (GRCm39)		probably benign	Het
Ssr1	T	C	13: 38,167,407 (GRCm39)	D252G	probably damaging	Het
Stx1b	T	C	7: 127,409,870 (GRCm39)	E19G	probably damaging	Het
Tbc1d23	T	A	16: 56,992,139 (GRCm39)	E607V	probably damaging	Het
Tchhl1	A	G	3: 93,378,230 (GRCm39)	I311M	probably benign	Het
Trpm6	C	T	19: 18,761,272 (GRCm39)		probably benign	Het

Other mutations in Rab25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02444:Rab25	APN	3	88,450,020 (GRCm39)	missense	probably benign	0.24
IGL03098:Rab25	UTSW	3	88,449,567 (GRCm39)	missense	probably damaging	1.00
R0165:Rab25	UTSW	3	88,455,362 (GRCm39)	missense	probably benign	0.00
R1980:Rab25	UTSW	3	88,450,765 (GRCm39)	missense	probably damaging	0.97
R5175:Rab25	UTSW	3	88,450,728 (GRCm39)	missense	possibly damaging	0.95
R6612:Rab25	UTSW	3	88,450,710 (GRCm39)	missense	probably damaging	0.99
R7688:Rab25	UTSW	3	88,452,270 (GRCm39)	splice site	probably null
R8690:Rab25	UTSW	3	88,452,388 (GRCm39)	missense	probably damaging	0.97

Posted On

2012-12-06