Mutagenetix > Incidental Mutation

Incidental Mutation 'R5564:Rab34'

436756

Institutional Source

Beutler Lab

Gene Symbol

Rab34

Ensembl Gene

ENSMUSG00000002059

Gene Name

RAB34, member RAS oncogene family

Synonyms

Rah1, Narr

MMRRC Submission

043121-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78079256-78083019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78082458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 227 (V227G)

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: V221G

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

SMART Domains

Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059
AA Change: V221G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056241
AA Change: V213G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059
AA Change: V213G

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: V221G

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

SMART Domains

Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059
AA Change: V221G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126864

Predicted Effect

unknown
Transcript: ENSMUST00000156435
AA Change: V160G

SMART Domains

Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059
AA Change: V160G

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 damaging
Transcript: ENSMUST00000150941
AA Change: V227G

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

SMART Domains

Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059
AA Change: V227G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148603

Meta Mutation Damage Score

0.1802

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,513 (GRCm39)	V322A	probably benign	Het
Abca8b	G	T	11: 109,825,407 (GRCm39)	L1598M	probably benign	Het
Adam4	T	C	12: 81,466,348 (GRCm39)	T758A	probably benign	Het
B3galnt2	T	C	13: 14,169,814 (GRCm39)	I424T	probably damaging	Het
Cacna1g	T	C	11: 94,321,312 (GRCm39)	Y1316C	probably damaging	Het
Cacna2d1	T	C	5: 16,517,517 (GRCm39)	S388P	probably damaging	Het
Ccdc157	A	G	11: 4,098,765 (GRCm39)	L247S	probably damaging	Het
Cdh8	A	G	8: 99,757,498 (GRCm39)	I700T	possibly damaging	Het
Cdhr3	G	T	12: 33,098,985 (GRCm39)	Y535*	probably null	Het
Clasp2	T	C	9: 113,641,836 (GRCm39)		probably null	Het
Col16a1	T	A	4: 129,947,151 (GRCm39)	D165E	probably damaging	Het
Col9a1	A	T	1: 24,234,436 (GRCm39)		probably benign	Het
Cpa3	A	T	3: 20,296,307 (GRCm39)	I10N	possibly damaging	Het
Cstf3	T	A	2: 104,439,347 (GRCm39)		probably benign	Het
Dnah3	C	A	7: 119,570,689 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,874,706 (GRCm39)	C263R	probably benign	Het
Eps8l2	C	A	7: 140,936,534 (GRCm39)	Q288K	possibly damaging	Het
Fam193a	T	A	5: 34,578,199 (GRCm39)	V231D	probably damaging	Het
Gjd3	C	T	11: 102,691,029 (GRCm39)	G325S	probably benign	Het
Gpatch8	T	A	11: 102,429,111 (GRCm39)	E39D	unknown	Het
Gpr107	C	T	2: 31,042,375 (GRCm39)	A2V	probably damaging	Het
Kansl3	G	T	1: 36,385,045 (GRCm39)	H629N	possibly damaging	Het
Kcna10	C	A	3: 107,101,545 (GRCm39)	H59N	probably benign	Het
Kitl	A	T	10: 99,915,886 (GRCm39)	E138D	possibly damaging	Het
Kpna2	T	C	11: 106,881,571 (GRCm39)	K353R	probably damaging	Het
M1ap	T	A	6: 82,958,798 (GRCm39)	I143N	probably damaging	Het
Macf1	A	G	4: 123,420,538 (GRCm39)	S239P	possibly damaging	Het
Med13l	T	A	5: 118,880,105 (GRCm39)	S1066T	probably damaging	Het
Mettl23	G	T	11: 116,739,865 (GRCm39)	E47*	probably null	Het
Or52i2	T	C	7: 102,319,433 (GRCm39)	F102S	probably damaging	Het
Or5af1	C	T	11: 58,722,039 (GRCm39)	Q20*	probably null	Het
Proca1	T	A	11: 78,092,699 (GRCm39)	D48E	possibly damaging	Het
Rab7	A	T	6: 87,990,632 (GRCm39)	L14Q	probably damaging	Het
Rasgef1c	C	T	11: 49,847,934 (GRCm39)	S23F	probably benign	Het
Rit1	A	G	3: 88,633,457 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,174,568 (GRCm39)	T172A	probably benign	Het
Scmh1	C	A	4: 120,325,575 (GRCm39)	N97K	probably damaging	Het
Skint6	T	C	4: 112,846,162 (GRCm39)	E655G	possibly damaging	Het
Slc22a15	A	G	3: 101,771,905 (GRCm39)	V243A	probably benign	Het
Smg1	A	G	7: 117,789,042 (GRCm39)		probably benign	Het
Smim7	C	T	8: 73,324,867 (GRCm39)	G3R	probably damaging	Het
Snurf	C	T	7: 59,645,282 (GRCm39)	R44H	possibly damaging	Het
Snx13	G	A	12: 35,174,471 (GRCm39)	A667T	possibly damaging	Het
Sowaha	T	G	11: 53,369,590 (GRCm39)	H382P	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem259	G	T	10: 79,814,442 (GRCm39)		probably null	Het
Topbp1	A	G	9: 103,211,277 (GRCm39)	T945A	probably damaging	Het
Tor1aip2	T	C	1: 155,939,307 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,527,136 (GRCm39)	V118A	probably damaging	Het
Usp38	T	C	8: 81,711,717 (GRCm39)	K773E	probably damaging	Het
Wnk1	G	A	6: 119,925,852 (GRCm39)		probably benign	Het
Zfp871	A	G	17: 32,994,842 (GRCm39)	V111A	possibly 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
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'- CCCAAGAGATTAAGGCCGAG -3'
(R):5'- CTTGCTGGCAGTTAGGTACAG -3'

Sequencing Primer
(F):5'- CCCAAGAGATTAAGGCCGAGTACTG -3'
(R):5'- AGGTACAGGTTTTTGTCATCGC -3'

Posted On

2016-10-24