Mutagenetix > Incidental Mutation

Incidental Mutation 'R7015:Rab34'

545265

Institutional Source

Beutler Lab

Gene Symbol

Rab34

Ensembl Gene

ENSMUSG00000002059

Gene Name

RAB34, member RAS oncogene family

Synonyms

Rah1, Narr

MMRRC Submission

045116-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78079256-78083019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78080978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 63 (V63F)

Ref Sequence

ENSEMBL: ENSMUSP00000123033 (fasta)

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 damaging
Transcript: ENSMUST00000002128
AA Change: V57F

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

SMART Domains

Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059
AA Change: V57F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056241
AA Change: V57F

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059
AA Change: V57F

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 damaging
Transcript: ENSMUST00000108322
AA Change: V57F

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

SMART Domains

Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059
AA Change: V57F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150941
AA Change: V63F

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

SMART Domains

Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059
AA Change: V63F

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059
AA Change: V8F

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

probably benign
Transcript: ENSMUST00000207728

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

93% (55/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,902,738 (GRCm39)	R3G	possibly damaging	Het
Abcc2	A	G	19: 43,786,617 (GRCm39)	I150V	probably benign	Het
Adgrb1	T	C	15: 74,445,959 (GRCm39)	L1085P	probably damaging	Het
Agbl4	A	G	4: 110,335,697 (GRCm39)	N24D	probably damaging	Het
Aox1	A	G	1: 58,321,917 (GRCm39)	T70A	probably benign	Het
Aplf	G	A	6: 87,618,884 (GRCm39)	A399V	probably damaging	Het
Asxl3	A	G	18: 22,656,978 (GRCm39)	S1663G	probably benign	Het
Bcat1	G	C	6: 144,985,309 (GRCm39)	P43R	probably damaging	Het
Camk1	T	C	6: 113,318,887 (GRCm39)	R9G	probably benign	Het
Casp8ap2	T	C	4: 32,644,278 (GRCm39)	V1117A	probably damaging	Het
Cd300ld4	A	T	11: 114,913,533 (GRCm39)	V174E	probably benign	Het
Cep85l	T	C	10: 53,225,151 (GRCm39)	D146G	possibly damaging	Het
Clip1	T	C	5: 123,751,675 (GRCm39)		probably benign	Het
Cog3	C	T	14: 75,950,716 (GRCm39)	V719I	possibly damaging	Het
Col4a4	G	A	1: 82,484,671 (GRCm39)	P532L	unknown	Het
Col6a4	C	T	9: 105,910,954 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,632,521 (GRCm39)	Q4547*	probably null	Het
Ergic1	G	A	17: 26,873,853 (GRCm39)		probably benign	Het
Foxn4	G	A	5: 114,394,916 (GRCm39)	T337M	possibly damaging	Het
Gemin5	A	T	11: 58,047,566 (GRCm39)	I336N	probably damaging	Het
Gm21905	A	T	5: 68,103,705 (GRCm39)		probably null	Het
Grik2	C	A	10: 49,411,532 (GRCm39)	R202L	probably damaging	Het
Iglon5	T	C	7: 43,126,351 (GRCm39)	D184G	probably benign	Het
Il11ra1	A	T	4: 41,765,421 (GRCm39)	Q172L	probably benign	Het
Me2	G	T	18: 73,914,218 (GRCm39)		probably null	Het
Med24	A	G	11: 98,609,678 (GRCm39)	V73A	possibly damaging	Het
Mmp24	A	G	2: 155,634,544 (GRCm39)	Q88R	probably damaging	Het
Mroh3	A	T	1: 136,111,069 (GRCm39)	V819E	probably damaging	Het
Mrps9	A	G	1: 42,937,706 (GRCm39)	K247R	probably benign	Het
Myo15b	G	A	11: 115,762,670 (GRCm39)	R1254H		Het
Ncoa5	A	G	2: 164,844,001 (GRCm39)	L134P	probably benign	Het
Or4d5	A	T	9: 40,012,751 (GRCm39)	F12I	probably benign	Het
Or51e2	C	A	7: 102,391,651 (GRCm39)	L186F	probably damaging	Het
Or52a24	T	C	7: 103,382,024 (GRCm39)	V297A	probably null	Het
Pdcd11	A	G	19: 47,086,665 (GRCm39)	I224V	probably benign	Het
Ptprh	C	A	7: 4,555,626 (GRCm39)		probably null	Het
Rack1	T	C	11: 48,692,592 (GRCm39)	I71T	probably benign	Het
Rai14	G	A	15: 10,589,401 (GRCm39)	R266*	probably null	Het
Rsph9	A	G	17: 46,440,382 (GRCm39)	V238A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sel1l3	A	T	5: 53,329,916 (GRCm39)	C480S	probably benign	Het
Sh3pxd2a	C	T	19: 47,256,562 (GRCm39)	A747T	probably benign	Het
Slc1a3	T	C	15: 8,679,052 (GRCm39)	N181S	probably damaging	Het
Slit1	T	A	19: 41,618,325 (GRCm39)	K784*	probably null	Het
Sos2	T	A	12: 69,632,009 (GRCm39)	Q1297L	probably benign	Het
Srd5a2	T	A	17: 74,334,114 (GRCm39)	T102S	probably benign	Het
Ss18l2	A	T	9: 121,541,674 (GRCm39)	I64F	probably damaging	Het
Tas2r120	T	C	6: 132,634,128 (GRCm39)	F70S	possibly damaging	Het
Tjap1	G	A	17: 46,574,700 (GRCm39)	A5V	possibly damaging	Het
Tln2	A	T	9: 67,269,929 (GRCm39)	M488K	possibly damaging	Het
Tnks	T	G	8: 35,305,701 (GRCm39)	I42L	probably benign	Het
Togaram2	A	T	17: 72,016,563 (GRCm39)	Q640L	possibly damaging	Het
Triobp	C	A	15: 78,878,260 (GRCm39)	Q1682K	probably damaging	Het
Trip11	C	T	12: 101,859,942 (GRCm39)	E311K	probably damaging	Het
Ugt2b5	A	G	5: 87,287,655 (GRCm39)	Y171H	probably damaging	Het
Vmn2r66	T	C	7: 84,644,766 (GRCm39)	D548G	possibly damaging	Het
Zfp990	G	T	4: 145,263,205 (GRCm39)	D68Y	probably damaging	Het
Zranb2	A	T	3: 157,242,370 (GRCm39)		probably null	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
R5952:Rab34	UTSW	11	78,081,094 (GRCm39)	unclassified	probably benign
R6261:Rab34	UTSW	11	78,082,028 (GRCm39)	splice site	probably null
R7127:Rab34	UTSW	11	78,082,056 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAACATGTGCAGAGCCCTCC -3'
(R):5'- AATCCACTCCGATGGTAGCC -3'

Sequencing Primer
(F):5'- TCACTCCAGAAAAACAGGTCTG -3'
(R):5'- ACTCCGATGGTAGCCTTGTAATTC -3'

Posted On

2019-05-13