Mutagenetix > Incidental Mutation

Incidental Mutation 'R9642:Rab7'

726063

Institutional Source

Beutler Lab

Gene Symbol

Rab7

Ensembl Gene

ENSMUSG00000079477

Gene Name

RAB7, member RAS oncogene family

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R9642 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87976088-88022252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87981187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 165 (A165V)

Ref Sequence

ENSEMBL: ENSMUSP00000092658 (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: A165V

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

SMART Domains

Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: A165V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113596
AA Change: A165V

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

SMART Domains

Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: A165V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113597
AA Change: A165V

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

SMART Domains

Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: A165V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113598
AA Change: A165V

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

SMART Domains

Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: A165V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113600
AA Change: A165V

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

SMART Domains

Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: A165V

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,619,412 (GRCm39)		probably null	Het
Aadacl3	A	G	4: 144,182,512 (GRCm39)	S319P	probably benign	Het
Abcc6	C	A	7: 45,639,765 (GRCm39)	D907Y	probably benign	Het
Apol7b	T	C	15: 77,308,103 (GRCm39)	S131G	probably benign	Het
Atg2a	C	T	19: 6,300,198 (GRCm39)	R669*	probably null	Het
Atr	T	A	9: 95,821,294 (GRCm39)	I2260N	probably damaging	Het
Bmper	T	A	9: 23,395,198 (GRCm39)	V643E	probably benign	Het
Cacna2d2	A	G	9: 107,392,627 (GRCm39)	I524V	possibly damaging	Het
Ccdc171	C	A	4: 83,599,525 (GRCm39)	A780E	probably benign	Het
Cdcp3	C	A	7: 130,848,257 (GRCm39)	Q688K	probably benign	Het
Cfhr2	A	G	1: 139,738,620 (GRCm39)	S314P	probably damaging	Het
Cops2	A	T	2: 125,682,410 (GRCm39)	D190E	probably benign	Het
Dmxl1	G	A	18: 50,013,825 (GRCm39)	G1538R	probably damaging	Het
Dyrk4	A	T	6: 126,893,253 (GRCm39)	V43E	probably benign	Het
Eif4a3l2	A	G	6: 116,528,350 (GRCm39)	R76G	probably damaging	Het
Enoph1	T	C	5: 100,188,115 (GRCm39)	I13T	possibly damaging	Het
Eya3	A	T	4: 132,426,374 (GRCm39)	I268F	probably damaging	Het
Ezh2	A	C	6: 47,521,453 (GRCm39)	M439R	probably benign	Het
Fam83c	T	C	2: 155,672,980 (GRCm39)	N259S	probably damaging	Het
Gbf1	A	T	19: 46,258,707 (GRCm39)	M963L	probably benign	Het
Ghr	A	T	15: 3,355,469 (GRCm39)	D271E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gtse1	T	A	15: 85,751,697 (GRCm39)	L297I	probably damaging	Het
Hecw1	T	A	13: 14,515,394 (GRCm39)	H246L	probably damaging	Het
Hmox1	G	A	8: 75,823,881 (GRCm39)	R183H	possibly damaging	Het
Ifi202b	A	T	1: 173,799,850 (GRCm39)	Y210*	probably null	Het
Ighv1-76	A	T	12: 115,811,918 (GRCm39)	I6N	possibly damaging	Het
Ildr1	T	A	16: 36,536,490 (GRCm39)	I173N	probably damaging	Het
Jaml	T	C	9: 45,000,116 (GRCm39)	V138A	probably damaging	Het
Kmt2b	A	T	7: 30,283,340 (GRCm39)		probably null	Het
Krt87	T	C	15: 101,385,074 (GRCm39)	N341D	probably benign	Het
Map3k20	T	C	2: 72,272,181 (GRCm39)	W770R	probably damaging	Het
Mast2	A	G	4: 116,170,966 (GRCm39)	I667T	probably damaging	Het
Mdp1	T	C	14: 55,896,933 (GRCm39)	T71A	probably damaging	Het
Muc5ac	A	T	7: 141,349,601 (GRCm39)	T505S	possibly damaging	Het
Mx1	A	G	16: 97,256,376 (GRCm39)	V181A	probably damaging	Het
Myo15b	A	G	11: 115,772,335 (GRCm39)	E83G	possibly damaging	Het
Ncam2	A	T	16: 81,418,251 (GRCm39)	I769L	probably benign	Het
Notum	T	C	11: 120,550,980 (GRCm39)	D62G	probably damaging	Het
Or4c124	A	T	2: 89,155,907 (GRCm39)	C206S	possibly damaging	Het
Or5ac22	A	T	16: 59,135,610 (GRCm39)	H53Q	possibly damaging	Het
Or7a39	C	T	10: 78,715,395 (GRCm39)	P130S	probably damaging	Het
Or8g32	T	C	9: 39,305,857 (GRCm39)	S254P	probably damaging	Het
P2rx2	A	G	5: 110,489,878 (GRCm39)	S196P	possibly damaging	Het
Pcdh7	A	T	5: 57,876,717 (GRCm39)	I91F	probably damaging	Het
Peak1	A	G	9: 56,167,205 (GRCm39)	V241A	probably benign	Het
Ppl	C	A	16: 4,915,602 (GRCm39)	R623S	probably benign	Het
Prkaca	A	G	8: 84,717,088 (GRCm39)	I151V	probably benign	Het
Psmb11	A	T	14: 54,863,295 (GRCm39)	Q171L	probably benign	Het
Rab3gap2	T	G	1: 184,967,692 (GRCm39)	F166V	probably benign	Het
Ranbp2	T	C	10: 58,318,907 (GRCm39)	Y2473H	probably damaging	Het
Runx3	A	G	4: 134,848,341 (GRCm39)		probably benign	Het
Sh3bp5l	T	A	11: 58,237,085 (GRCm39)	C347*	probably null	Het
Smc5	A	G	19: 23,238,752 (GRCm39)	M208T	probably damaging	Het
Stk11ip	T	C	1: 75,510,899 (GRCm39)		probably null	Het
Tas2r136	A	T	6: 132,754,462 (GRCm39)	C222S	probably benign	Het
Themis2	A	G	4: 132,513,047 (GRCm39)	V393A	possibly damaging	Het
Tln2	A	C	9: 67,157,826 (GRCm39)	V1171G	probably benign	Het
Tmem63a	T	C	1: 180,776,393 (GRCm39)	F68L	probably damaging	Het
Tpst1	T	A	5: 130,130,959 (GRCm39)	L143Q	probably damaging	Het
Trp63	C	A	16: 25,682,508 (GRCm39)	Q284K	probably benign	Het
Ttc17	T	C	2: 94,194,735 (GRCm39)	E546G	probably benign	Het
Ttn	A	G	2: 76,804,570 (GRCm39)	I234T	unknown	Het
Upp1	A	G	11: 9,085,206 (GRCm39)	K231R	probably benign	Het
Uso1	T	A	5: 92,285,967 (GRCm39)	L4H	probably damaging	Het
Vmn1r9	T	A	6: 57,048,216 (GRCm39)	L97Q	probably damaging	Het
Vmn2r107	T	C	17: 20,580,661 (GRCm39)	C533R	probably damaging	Het
Vps35l	C	A	7: 118,437,451 (GRCm39)	D909E	probably benign	Het
Wdr90	A	G	17: 26,072,694 (GRCm39)		probably null	Het
Ydjc	A	G	16: 16,966,073 (GRCm39)	H219R	probably benign	Het
Ykt6	T	C	11: 5,905,917 (GRCm39)	L6P	probably damaging	Het
Zfp236	A	G	18: 82,622,384 (GRCm39)	V1682A	probably benign	Het
Zfp35	C	T	18: 24,137,155 (GRCm39)	Q500*	probably null	Het
Zfp780b	T	A	7: 27,664,135 (GRCm39)	D140V	probably benign	Het
Zyg11b	T	C	4: 108,117,185 (GRCm39)	T352A	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGCTGACGCAGAATCTG -3'
(R):5'- CTGCAGGTCTATAGGCCACATTC -3'

Sequencing Primer
(F):5'- TGACGCAGAATCTGTCATGACCTAG -3'
(R):5'- AGATGTATTCTCACCAGCGTG -3'

Posted On

2022-09-12