Mutagenetix > Incidental Mutation

Incidental Mutation 'R3703:Rab1a'

258617

Institutional Source

Beutler Lab

Gene Symbol

Rab1a

Ensembl Gene

ENSMUSG00000020149

Gene Name

RAB1A, member RAS oncogene family

Synonyms

Rab-1, Ypt1, ras-related YPT1 protein, Gtbp, Rab1

MMRRC Submission

040696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R3703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20151432-20176856 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 20174506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020358] [ENSMUST00000050611] [ENSMUST00000109601] [ENSMUST00000109602] [ENSMUST00000163483]

AlphaFold

P62821

Predicted Effect

probably benign
Transcript: ENSMUST00000020358

SMART Domains

Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149

Domain	Start	End	E-Value	Type
RAB	9	172	2.9e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050611

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
SPEC	605	706	1.28e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109601

SMART Domains

Protein: ENSMUSP00000105230
Gene: ENSMUSG00000020149

Domain	Start	End	E-Value	Type
Pfam:Ras	10	63	1.4e-18	PFAM
Pfam:Miro	10	93	8.4e-7	PFAM
Pfam:Ras	61	95	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109602

SMART Domains

Protein: ENSMUSP00000105231
Gene: ENSMUSG00000020149

Domain	Start	End	E-Value	Type
Pfam:Ras	10	31	7.6e-6	PFAM
Pfam:Ras	29	107	8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152728

Predicted Effect

probably benign
Transcript: ENSMUST00000163483

SMART Domains

Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149

Domain	Start	End	E-Value	Type
RAB	12	175	2.9e-107	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	C	T	8: 77,985,685 (GRCm39)		probably null	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brf1	T	C	12: 112,932,991 (GRCm39)		probably null	Het
Btnl7-ps	T	A	17: 34,752,941 (GRCm39)		noncoding transcript	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,682 (GRCm39)		probably null	Het
Csrp2	G	A	10: 110,773,735 (GRCm39)		probably benign	Het
Ctla2a	T	A	13: 61,083,821 (GRCm39)	D37V	probably damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dxo	T	C	17: 35,057,745 (GRCm39)		probably benign	Het
Edil3	A	T	13: 89,325,417 (GRCm39)	M269L	probably benign	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hnrnpul2	A	G	19: 8,801,773 (GRCm39)	E327G	probably damaging	Het
Ifi207	A	T	1: 173,555,029 (GRCm39)	Y884*	probably null	Het
Ifi47	T	C	11: 48,986,352 (GRCm39)	S40P	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mug1	C	T	6: 121,865,515 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,080,427 (GRCm39)	I1214V	probably benign	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nap1l3	A	T	X: 121,305,221 (GRCm39)	I499N	possibly damaging	Het
Nfat5	T	A	8: 108,078,053 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nt5c3	A	G	6: 56,860,652 (GRCm39)		probably benign	Het
Pklr	C	T	3: 89,050,008 (GRCm39)	R328C	probably damaging	Het
Prrc2c	G	A	1: 162,538,260 (GRCm39)	R457C	probably damaging	Het
Rasa3	A	T	8: 13,638,972 (GRCm39)	D278E	probably benign	Het
Rdh8	C	T	9: 20,734,629 (GRCm39)	P99S	probably damaging	Het
Snx9	T	A	17: 5,978,475 (GRCm39)		probably null	Het
Spns3	C	T	11: 72,390,356 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,774,486 (GRCm39)	Y421C	probably damaging	Het
Tas1r2	G	A	4: 139,394,729 (GRCm39)	C495Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tmprss15	T	C	16: 78,851,030 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Trdmt1	T	A	2: 13,526,108 (GRCm39)	Q170L	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Zfp616	G	A	11: 73,974,145 (GRCm39)	W138*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het

Other mutations in Rab1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Rab1a	APN	11	20,174,727 (GRCm39)	missense	possibly damaging	0.92
IGL01639:Rab1a	APN	11	20,173,185 (GRCm39)	splice site	probably benign
IGL01982:Rab1a	APN	11	20,174,717 (GRCm39)	missense	probably benign	0.17
R0504:Rab1a	UTSW	11	20,173,169 (GRCm39)	missense	probably damaging	0.99
R1167:Rab1a	UTSW	11	20,173,172 (GRCm39)	missense	possibly damaging	0.93
R2967:Rab1a	UTSW	11	20,173,068 (GRCm39)	splice site	probably null
R5623:Rab1a	UTSW	11	20,151,626 (GRCm39)	utr 5 prime	probably benign
R5897:Rab1a	UTSW	11	20,168,867 (GRCm39)	nonsense	probably null
R7864:Rab1a	UTSW	11	20,165,673 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTTCCTTAGTTAGAGCAGCAGTG -3'
(R):5'- CGTTGCGTTCTTAGCACTGG -3'

Sequencing Primer
(F):5'- CTTAGTTAGAGCAGCAGTGGCCTC -3'
(R):5'- AGCACTGGTTTCCAAAAATGG -3'

Posted On

2015-01-23