Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Rab34'

412164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab34

Ensembl Gene

ENSMUSG00000002059

Gene Name

RAB34, member RAS oncogene family

Synonyms

Rah1, Narr

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

78079256-78083019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78081144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 87 (Y87F)

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: Y81F

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

SMART Domains

Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059
AA Change: Y81F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056241
AA Change: Y81F

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

SMART Domains

Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059
AA Change: Y81F

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: Y81F

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

SMART Domains

Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059
AA Change: Y81F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126864

Predicted Effect

probably damaging
Transcript: ENSMUST00000150941
AA Change: Y87F

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

SMART Domains

Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059
AA Change: Y87F

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

Predicted Effect

unknown
Transcript: ENSMUST00000156435
AA Change: Y32F

SMART Domains

Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059
AA Change: Y32F

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

Coding Region Coverage

Validation Efficiency

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
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	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
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
R7015:Rab34	UTSW	11	78,080,978 (GRCm39)	missense	probably damaging	1.00
R7127:Rab34	UTSW	11	78,082,056 (GRCm39)	nonsense	probably null

Posted On

2016-08-02