Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:Rab7'

236933

Institutional Source

Beutler Lab

Gene Symbol

Rab7

Ensembl Gene

ENSMUSG00000079477

Gene Name

RAB7, member RAS oncogene family

Synonyms

MMRRC Submission

040179-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87976088-88022252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87982063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 104 (D104G)

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: D104G

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

SMART Domains

Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: D104G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113596
AA Change: D104G

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

SMART Domains

Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: D104G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113597
AA Change: D104G

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

SMART Domains

Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: D104G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113598
AA Change: D104G

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

SMART Domains

Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: D104G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113600
AA Change: D104G

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

SMART Domains

Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: D104G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153372

SMART Domains

Protein: ENSMUSP00000122496
Gene: ENSMUSG00000084950

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	65	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203674

SMART Domains

Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204126

SMART Domains

Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477

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

Meta Mutation Damage Score

0.4532

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,312 (GRCm39)	N356K	probably damaging	Het
Acap2	C	T	16: 30,952,346 (GRCm39)		probably null	Het
Adamts19	T	C	18: 59,087,626 (GRCm39)	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,668,055 (GRCm39)	M539K	probably damaging	Het
Aplp1	A	T	7: 30,141,946 (GRCm39)	C210*	probably null	Het
Apoa1	A	T	9: 46,141,371 (GRCm39)	K156*	probably null	Het
AW551984	G	A	9: 39,511,111 (GRCm39)	R159C	probably benign	Het
Bok	C	T	1: 93,622,787 (GRCm39)	Q112*	probably null	Het
Cemip2	T	C	19: 21,789,149 (GRCm39)	S528P	possibly damaging	Het
Cfap57	T	G	4: 118,463,885 (GRCm39)	I323L	probably benign	Het
Cfap69	T	A	5: 5,675,803 (GRCm39)	E270D	probably damaging	Het
Ch25h	G	T	19: 34,452,097 (GRCm39)	L144M	probably damaging	Het
Clcn6	T	A	4: 148,099,057 (GRCm39)	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,320,611 (GRCm39)	T115S	probably benign	Het
Csf1r	T	A	18: 61,248,015 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,539,028 (GRCm39)	T279A	probably damaging	Het
Dnah8	A	G	17: 30,872,367 (GRCm39)	H452R	probably benign	Het
Dscam	T	A	16: 96,411,524 (GRCm39)	D1784V	probably damaging	Het
Exo1	T	A	1: 175,710,456 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,164,905 (GRCm39)	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,911,393 (GRCm39)	A56T	probably damaging	Het
Gbf1	T	C	19: 46,254,109 (GRCm39)	S599P	probably benign	Het
Iqce	T	C	5: 140,677,348 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,601,648 (GRCm39)	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,618,695 (GRCm39)	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,877,275 (GRCm39)	V43A	probably damaging	Het
Maea	C	G	5: 33,529,034 (GRCm39)	Q326E	probably benign	Het
Man1a2	A	T	3: 100,539,847 (GRCm39)	I308N	probably damaging	Het
Marf1	G	T	16: 13,970,471 (GRCm39)	R83S	probably benign	Het
Me3	A	C	7: 89,282,278 (GRCm39)	T54P	probably benign	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Mmel1	A	G	4: 154,978,560 (GRCm39)	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,128 (GRCm39)	V199A	probably benign	Het
Mrpl36	T	A	13: 73,479,588 (GRCm39)	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,054,686 (GRCm39)	T947S	probably benign	Het
Or14c45	G	A	7: 86,176,870 (GRCm39)	V302I	probably benign	Het
Or4b1d	T	A	2: 89,968,808 (GRCm39)	H225L	possibly damaging	Het
Or8b55	A	T	9: 38,727,482 (GRCm39)	I228F	possibly damaging	Het
Parp4	A	T	14: 56,896,746 (GRCm39)	R1923S	unknown	Het
Pcm1	T	C	8: 41,729,002 (GRCm39)	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,322,791 (GRCm39)	S26G	probably benign	Het
Prom1	A	T	5: 44,184,081 (GRCm39)	H433Q	possibly damaging	Het
Rabgap1l	A	G	1: 160,551,632 (GRCm39)	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,430,666 (GRCm39)	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263 (GRCm39)	R1270T	probably benign	Het
Sdhaf4	C	T	1: 24,035,370 (GRCm39)	G93R	probably damaging	Het
Sec24a	T	C	11: 51,595,228 (GRCm39)	T910A	probably benign	Het
Sesn1	A	G	10: 41,779,778 (GRCm39)	H345R	possibly damaging	Het
Snx4	T	A	16: 33,106,428 (GRCm39)		probably null	Het
Tchh	A	G	3: 93,351,439 (GRCm39)	E293G	unknown	Het
Ulk2	T	A	11: 61,682,335 (GRCm39)	T727S	probably benign	Het
Usp53	T	C	3: 122,729,706 (GRCm39)	E756G	probably damaging	Het
Vmn2r68	G	A	7: 84,871,123 (GRCm39)	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,645,839 (GRCm39)	N56S	possibly damaging	Het
Washc5	A	T	15: 59,235,118 (GRCm39)	Y263*	probably null	Het
Zfp119b	A	T	17: 56,245,639 (GRCm39)	C516S	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
R1029:Rab7	UTSW	6	87,990,624 (GRCm39)	missense	probably damaging	1.00
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
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'- ATTCTGAGCCTGGTAGAGAGC -3'
(R):5'- GCTTCGTGTTCTAGGTACATACC -3'

Sequencing Primer
(F):5'- GAGAGCGCTCTGAACTCTC -3'
(R):5'- AGAAAGGAGCCATGTCACTC -3'

Posted On

2014-10-02