Mutagenetix > Incidental Mutation

Incidental Mutation 'R5952:Rab34'

470963

Institutional Source

Beutler Lab

Gene Symbol

Rab34

Ensembl Gene

ENSMUSG00000002059

Gene Name

RAB34, member RAS oncogene family

Synonyms

Rah1, Narr

MMRRC Submission

044142-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5952 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

78079256-78083019 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 78081094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002128] [ENSMUST00000056241] [ENSMUST00000060539] [ENSMUST00000078099] [ENSMUST00000108317] [ENSMUST00000108322] [ENSMUST00000207728] [ENSMUST00000150941]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002128

SMART Domains

Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059

Domain	Start	End	E-Value	Type
RAB	54	219	2.96e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056241

SMART Domains

Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059

Domain	Start	End	E-Value	Type
Pfam:Arf	43	205	9.5e-13	PFAM
Pfam:Miro	54	166	9.3e-17	PFAM
Pfam:MMR_HSR1	54	204	4.4e-7	PFAM
Pfam:Ras	54	210	4.8e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060539

SMART Domains

Protein: ENSMUSP00000050319
Gene: ENSMUSG00000044122

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078099

SMART Domains

Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122

Domain	Start	End	E-Value	Type
coiled coil region	92	121	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108317

SMART Domains

Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122

Domain	Start	End	E-Value	Type
Blast:PA2c	33	99	2e-12	BLAST
SCOP:d1poc__	55	102	5e-4	SMART
coiled coil region	179	208	N/A	INTRINSIC
low complexity region	235	248	N/A	INTRINSIC
low complexity region	285	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108322

SMART Domains

Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059

Domain	Start	End	E-Value	Type
RAB	54	219	2.96e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148603

Predicted Effect

probably benign
Transcript: ENSMUST00000207728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154542

Predicted Effect

probably benign
Transcript: ENSMUST00000150941

SMART Domains

Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059

Domain	Start	End	E-Value	Type
RAB	60	225	2.96e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156435

SMART Domains

Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059

Domain	Start	End	E-Value	Type
Pfam:Arf	1	167	4.1e-17	PFAM
Pfam:Roc	6	122	4.5e-32	PFAM
Pfam:MMR_HSR1	6	156	2.3e-8	PFAM
Pfam:Ras	6	168	1.9e-44	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

91% (62/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,086,728 (GRCm39)	D296V	probably damaging	Het
Ak9	A	G	10: 41,233,559 (GRCm39)	E599G	possibly damaging	Het
Ank3	A	T	10: 69,822,293 (GRCm39)	I1604F	probably benign	Het
Arid4a	A	G	12: 71,109,980 (GRCm39)	D107G	probably benign	Het
Bltp1	A	G	3: 37,019,770 (GRCm39)	T2060A	probably damaging	Het
Btn2a2	A	T	13: 23,666,978 (GRCm39)	I209N	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,596,901 (GRCm39)	V1979A	probably damaging	Het
Cyp4a12b	C	T	4: 115,271,714 (GRCm39)	R142*	probably null	Het
Ddx23	A	T	15: 98,556,121 (GRCm39)	S66T	unknown	Het
Efcab2	A	G	1: 178,303,439 (GRCm39)	K121R	probably benign	Het
Epb41l1	T	A	2: 156,345,708 (GRCm39)	V237D	probably damaging	Het
Epb41l1	G	T	2: 156,366,903 (GRCm39)	A579S	probably benign	Het
Epn1	G	A	7: 5,096,911 (GRCm39)	R231H	probably damaging	Het
Fbrs	T	C	7: 127,086,924 (GRCm39)	S649P	probably damaging	Het
Fezf1	A	G	6: 23,247,427 (GRCm39)	V216A	probably benign	Het
Gen1	A	T	12: 11,310,897 (GRCm39)	S112T	probably damaging	Het
Glrx2	A	G	1: 143,620,872 (GRCm39)	N84D	probably benign	Het
Gm1818	T	G	12: 48,602,719 (GRCm39)		noncoding transcript	Het
Hira	C	A	16: 18,753,815 (GRCm39)	T553K	possibly damaging	Het
Hnrnph3	A	G	10: 62,851,374 (GRCm39)		probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Jcad	A	G	18: 4,674,554 (GRCm39)	Q772R	probably damaging	Het
Lamb3	A	G	1: 193,014,670 (GRCm39)	T610A	probably benign	Het
Map3k19	T	C	1: 127,750,477 (GRCm39)	D958G	probably benign	Het
Map4k4	G	A	1: 40,039,082 (GRCm39)		probably benign	Het
Mocos	T	C	18: 24,834,444 (GRCm39)	V827A	possibly damaging	Het
Ms4a10	T	A	19: 10,941,486 (GRCm39)	D161V	probably damaging	Het
Myh9	A	G	15: 77,657,532 (GRCm39)	I1071T	possibly damaging	Het
Myo15a	A	G	11: 60,370,246 (GRCm39)	E1002G	possibly damaging	Het
Neurod6	G	A	6: 55,656,002 (GRCm39)	H212Y	probably damaging	Het
Or2v1	A	T	11: 49,025,399 (GRCm39)	I95F	probably damaging	Het
Or52z13	T	A	7: 103,247,174 (GRCm39)	I217N	probably damaging	Het
Or5b12	T	C	19: 12,897,194 (GRCm39)	N160D	probably benign	Het
Pcdhb17	T	C	18: 37,620,133 (GRCm39)	V641A	probably benign	Het
Ppp3ca	A	T	3: 136,634,332 (GRCm39)	M431L	probably benign	Het
Ptprk	A	T	10: 28,461,671 (GRCm39)	I69F	probably damaging	Het
Rb1cc1	A	G	1: 6,318,406 (GRCm39)	N619S	probably benign	Het
Rnf169	T	C	7: 99,574,840 (GRCm39)	H585R	probably damaging	Het
Rps6kc1	A	G	1: 190,617,617 (GRCm39)	V129A	probably benign	Het
Siglecf	C	T	7: 43,005,351 (GRCm39)	T437M	probably benign	Het
Slc25a2	T	C	18: 37,771,335 (GRCm39)	N65D	probably benign	Het
Spire1	A	G	18: 67,639,779 (GRCm39)	S245P	probably benign	Het
Sptb	A	T	12: 76,679,158 (GRCm39)	M99K	probably benign	Het
Tacc1	G	T	8: 25,672,011 (GRCm39)	L406I	possibly damaging	Het
Tas2r140	T	C	6: 40,468,476 (GRCm39)	I102T	probably benign	Het
Trappc11	A	T	8: 47,949,952 (GRCm39)		probably null	Het
Trbv11	A	G	6: 41,084,153 (GRCm39)		noncoding transcript	Het
Trmt11	A	G	10: 30,436,838 (GRCm39)	Y301H	probably benign	Het
Tspo	A	G	15: 83,456,441 (GRCm39)	T75A	possibly damaging	Het
Ttn	T	C	2: 76,710,569 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,462,030 (GRCm39)	Q1210R	probably damaging	Het
Zhx3	A	T	2: 160,623,937 (GRCm39)	Y77N	probably damaging	Het

Other mutations in Rab34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01552:Rab34	APN	11	78,082,264 (GRCm39)	missense	probably damaging	1.00
IGL03180:Rab34	APN	11	78,081,144 (GRCm39)	missense	probably damaging	1.00
R0190:Rab34	UTSW	11	78,082,232 (GRCm39)	missense	possibly damaging	0.95
R0465:Rab34	UTSW	11	78,081,337 (GRCm39)	nonsense	probably null
R1201:Rab34	UTSW	11	78,081,222 (GRCm39)	splice site	probably null
R1907:Rab34	UTSW	11	78,082,081 (GRCm39)	missense	probably damaging	1.00
R4411:Rab34	UTSW	11	78,079,592 (GRCm39)	splice site	probably null
R5564:Rab34	UTSW	11	78,082,458 (GRCm39)	missense	probably damaging	1.00
R6261:Rab34	UTSW	11	78,082,028 (GRCm39)	splice site	probably null
R7015:Rab34	UTSW	11	78,080,978 (GRCm39)	missense	probably damaging	1.00
R7127:Rab34	UTSW	11	78,082,056 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAGGACTTTCTGGGCTTC -3'
(R):5'- CCCAGATAATAGGGTGTGCAAAATG -3'

Sequencing Primer
(F):5'- GAGACCTGCCTATCTATGGTAATG -3'
(R):5'- TGGGATGACAAGGCTATCTGG -3'

Posted On

2017-03-31