Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Rab34'

41590

Institutional Source

Beutler Lab

Gene Symbol

Rab34

Ensembl Gene

ENSMUSG00000002059

Gene Name

RAB34, member RAS oncogene family

Synonyms

Rah1, Narr

MMRRC Submission

038665-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0465 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78079256-78083019 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 78081337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 67 (C67*)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000002128
AA Change: C116*

SMART Domains

Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059
AA Change: C116*

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

Predicted Effect

probably null
Transcript: ENSMUST00000056241
AA Change: C116*

SMART Domains

Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059
AA Change: C116*

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 null
Transcript: ENSMUST00000108322
AA Change: C116*

SMART Domains

Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059
AA Change: C116*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126864

Predicted Effect

probably null
Transcript: ENSMUST00000150941
AA Change: C122*

SMART Domains

Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059
AA Change: C122*

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

Predicted Effect

probably null
Transcript: ENSMUST00000156435
AA Change: C67*

SMART Domains

Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059
AA Change: C67*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148603

Predicted Effect

probably benign
Transcript: ENSMUST00000207728

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	A	17: 56,092,137 (GRCm39)		probably benign	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Aox1	G	A	1: 58,101,366 (GRCm39)	V446I	probably damaging	Het
Arid1b	G	A	17: 5,046,535 (GRCm39)	G441D	possibly damaging	Het
Bdkrb2	A	T	12: 105,558,118 (GRCm39)	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,083,396 (GRCm39)	V80I	probably damaging	Het
Camkmt	T	A	17: 85,738,950 (GRCm39)	F225L	probably damaging	Het
Carf	T	C	1: 60,171,142 (GRCm39)	M200T	probably damaging	Het
Carmil3	T	C	14: 55,737,318 (GRCm39)	L767P	probably damaging	Het
Cdk14	T	A	5: 5,143,019 (GRCm39)	R237S	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cfap65	G	A	1: 74,956,043 (GRCm39)	R1093C	possibly damaging	Het
Cnot8	T	A	11: 58,004,886 (GRCm39)	V195E	probably damaging	Het
Copa	T	C	1: 171,945,872 (GRCm39)	F936S	probably damaging	Het
Cstdc1	A	G	2: 148,625,345 (GRCm39)	N93S	probably benign	Het
Dnai1	T	A	4: 41,629,988 (GRCm39)		probably null	Het
Dsel	T	C	1: 111,789,992 (GRCm39)	N181S	probably benign	Het
Enpp7	A	G	11: 118,879,607 (GRCm39)	N87S	probably damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm12695	T	C	4: 96,673,312 (GRCm39)	Y29C	probably damaging	Het
Gm5592	T	A	7: 40,805,481 (GRCm39)		probably benign	Het
Gmnc	T	G	16: 26,781,702 (GRCm39)	N109T	probably damaging	Het
Gstcd	A	G	3: 132,688,905 (GRCm39)	I615T	probably benign	Het
Hal	A	C	10: 93,352,146 (GRCm39)	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,227,940 (GRCm39)	I472V	probably null	Het
Ift27	A	T	15: 78,057,958 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,503,783 (GRCm39)	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,838,987 (GRCm39)	V66E	probably benign	Het
Itgb4	T	C	11: 115,870,582 (GRCm39)	M137T	probably damaging	Het
Lca5	T	A	9: 83,277,920 (GRCm39)	K475*	probably null	Het
Lyve1	A	G	7: 110,452,034 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,766,264 (GRCm39)	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204 (GRCm39)		probably benign	Het
Mmp15	T	C	8: 96,094,626 (GRCm39)	W167R	probably damaging	Het
Ms4a13	A	G	19: 11,149,957 (GRCm39)	C135R	probably benign	Het
Myh1	A	G	11: 67,101,243 (GRCm39)	H673R	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Oas2	A	G	5: 120,873,120 (GRCm39)	I645T	probably damaging	Het
Or52s6	A	T	7: 103,092,042 (GRCm39)	F96Y	possibly damaging	Het
Pard3b	T	G	1: 62,250,877 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,423,744 (GRCm39)		probably null	Het
Pcare	A	G	17: 72,057,155 (GRCm39)	C841R	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Rimbp3	T	C	16: 17,029,644 (GRCm39)	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,684 (GRCm39)	N104S	probably benign	Het
Rpa1	T	C	11: 75,203,921 (GRCm39)	T288A	probably damaging	Het
Scn9a	A	G	2: 66,357,340 (GRCm39)	L976P	probably damaging	Het
Serpina12	T	A	12: 104,004,104 (GRCm39)	D176V	probably benign	Het
Sik1	C	T	17: 32,073,996 (GRCm39)	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,612,672 (GRCm39)	R302L	probably benign	Het
Stambp	A	G	6: 83,547,321 (GRCm39)	I56T	probably benign	Het
Tac2	A	G	10: 127,565,039 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,270,714 (GRCm39)	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,481,130 (GRCm39)	R369C	probably benign	Het
Tnpo1	A	G	13: 99,021,142 (GRCm39)	I79T	probably damaging	Het
Ttll5	A	T	12: 85,980,100 (GRCm39)	N895Y	probably benign	Het
Ube2u	T	A	4: 100,389,293 (GRCm39)		probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,751,792 (GRCm39)	V612I	probably damaging	Het
Vmn2r59	G	T	7: 41,696,332 (GRCm39)	H137N	probably benign	Het
Vsig10l	T	C	7: 43,116,866 (GRCm39)	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,805 (GRCm39)		probably benign	Het
Xrra1	T	A	7: 99,528,578 (GRCm39)	D139E	probably benign	Het
Zc3h15	T	C	2: 83,494,159 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,310,716 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,509,413 (GRCm39)		probably benign	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
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
R5952:Rab34	UTSW	11	78,081,094 (GRCm39)	unclassified	probably benign
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'- GATCCAGTTTAACAGGGTAGGCGG -3'
(R):5'- GGATGCCACGTCATTCAGGTTGAAG -3'

Sequencing Primer
(F):5'- TAGGTTCTGCAAAGACACCTTCG -3'
(R):5'- GTCATTCAGGTTGAAGACAATGATG -3'

Posted On

2013-05-23