Mutagenetix > Incidental Mutation

Incidental Mutation 'R1029:Rab7'

95135

Institutional Source

Beutler Lab

Gene Symbol

Rab7

Ensembl Gene

ENSMUSG00000079477

Gene Name

RAB7, member RAS oncogene family

Synonyms

MMRRC Submission

039131-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R1029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87976088-88022252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87990624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 17 (S17P)

Ref Sequence

ENSEMBL: ENSMUSP00000109230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095048] [ENSMUST00000113596] [ENSMUST00000113597] [ENSMUST00000113598] [ENSMUST00000113600] [ENSMUST00000203674] [ENSMUST00000204126]

AlphaFold

P51150

Predicted Effect

probably damaging
Transcript: ENSMUST00000095048
AA Change: S17P

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

SMART Domains

Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
RAB	9	176	9.3e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113596
AA Change: S17P

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

SMART Domains

Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
RAB	9	176	9.3e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113597
AA Change: S17P

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

SMART Domains

Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
RAB	9	176	9.3e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113598
AA Change: S17P

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

SMART Domains

Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
RAB	9	176	9.3e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113600
AA Change: S17P

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

SMART Domains

Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
RAB	9	176	9.3e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203674
AA Change: S17P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
small_GTPase	6	87	3.5e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000204126
AA Change: S17P

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

SMART Domains

Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477
AA Change: S17P

Domain	Start	End	E-Value	Type
small_GTPase	6	99	6.6e-6	SMART

Meta Mutation Damage Score

0.5361

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.2%
20x: 94.5%

Validation Efficiency

92% (36/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted alleles exhibit abnormal endocytosis within the visceral endoderm, failure of elongation along the primitive streak and incomplete gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	A	G	11: 30,376,177 (GRCm39)	L230S	probably damaging	Het
4930505A04Rik	A	G	11: 30,396,389 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,602,032 (GRCm39)	I1648T	probably damaging	Het
Ccdc110	T	C	8: 46,394,817 (GRCm39)	F236S	probably damaging	Het
Ccdc178	T	C	18: 22,230,782 (GRCm39)	D363G	possibly damaging	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Cog7	C	T	7: 121,529,752 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,651,881 (GRCm39)	K1365E	probably damaging	Het
Dock9	T	C	14: 121,837,096 (GRCm39)		probably null	Het
Ehd3	T	A	17: 74,123,321 (GRCm39)	I108N	probably benign	Het
Erbb4	A	G	1: 68,348,773 (GRCm39)	S535P	probably damaging	Het
Fam170a	T	C	18: 50,414,741 (GRCm39)	V129A	probably damaging	Het
Gfra3	T	C	18: 34,823,892 (GRCm39)	T361A	probably benign	Het
Gm10295	A	T	7: 71,000,448 (GRCm39)	I44K	unknown	Het
Gm10553	T	C	1: 85,078,170 (GRCm39)	S96P	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Hspa13	A	T	16: 75,562,125 (GRCm39)	Y25N	probably damaging	Het
Lrfn3	G	A	7: 30,055,347 (GRCm39)	P533S	probably damaging	Het
Lrp4	A	G	2: 91,317,372 (GRCm39)		probably benign	Het
Mical3	T	C	6: 120,911,639 (GRCm39)	D1991G	probably benign	Het
Myoz1	A	G	14: 20,700,600 (GRCm39)	Y206H	probably damaging	Het
Or2at1	A	T	7: 99,416,431 (GRCm39)	I21F	probably benign	Het
Otog	A	G	7: 45,924,019 (GRCm39)	E1126G	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,472,613 (GRCm39)		probably benign	Het
Pttg1ip2	C	T	5: 5,505,919 (GRCm39)	A121T	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sppl2a	A	G	2: 126,765,514 (GRCm39)	S203P	probably benign	Het
Taar7a	A	G	10: 23,868,439 (GRCm39)	I314T	possibly damaging	Het
Tgs1	T	C	4: 3,593,471 (GRCm39)	I453T	probably damaging	Het
Tmem117	C	A	15: 94,909,217 (GRCm39)	T210N	probably benign	Het
Trim55	A	G	3: 19,698,906 (GRCm39)	N45S	probably damaging	Het
Ugt2b34	G	C	5: 87,052,246 (GRCm39)	S250*	probably null	Het
Vmn2r67	G	A	7: 84,785,974 (GRCm39)	T677I	probably damaging	Het
Zfp335	C	G	2: 164,734,598 (GRCm39)		probably benign	Het
Znrf1	T	A	8: 112,263,986 (GRCm39)	Y72N	probably damaging	Het

Other mutations in Rab7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0242:Rab7	UTSW	6	87,982,114 (GRCm39)	missense	probably damaging	0.98
R0242:Rab7	UTSW	6	87,982,114 (GRCm39)	missense	probably damaging	0.98
R2025:Rab7	UTSW	6	87,981,161 (GRCm39)	missense	probably damaging	1.00
R2086:Rab7	UTSW	6	87,989,300 (GRCm39)	missense	probably benign	0.08
R2177:Rab7	UTSW	6	87,982,063 (GRCm39)	missense	probably damaging	1.00
R5047:Rab7	UTSW	6	87,982,205 (GRCm39)	splice site	probably null
R5564:Rab7	UTSW	6	87,990,632 (GRCm39)	missense	probably damaging	1.00
R7491:Rab7	UTSW	6	87,990,624 (GRCm39)	missense	probably damaging	1.00
R8263:Rab7	UTSW	6	87,989,292 (GRCm39)	missense	probably benign	0.01
R8513:Rab7	UTSW	6	87,981,250 (GRCm39)	missense	probably benign	0.26
R8714:Rab7	UTSW	6	87,989,369 (GRCm39)	missense	probably damaging	0.99
R8715:Rab7	UTSW	6	87,989,369 (GRCm39)	missense	probably damaging	0.99
R8716:Rab7	UTSW	6	87,989,369 (GRCm39)	missense	probably damaging	0.99
R8717:Rab7	UTSW	6	87,989,369 (GRCm39)	missense	probably damaging	0.99
R8980:Rab7	UTSW	6	87,977,502 (GRCm39)	missense	probably benign
R9642:Rab7	UTSW	6	87,981,187 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTTCTACCCAGTTCTGCAACAC -3'
(R):5'- TGATGCCAGTAATGGACCCAGCAC -3'

Sequencing Primer
(F):5'- GGGCAGGAGACACTATTCCTATAC -3'
(R):5'- TAATGGACCCAGCACTTGAGG -3'

Posted On

2014-01-05