Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Rab1b'

453341

Institutional Source

Beutler Lab

Gene Symbol

Rab1b

Ensembl Gene

ENSMUSG00000024870

Gene Name

RAB1B, member RAS oncogene family

Synonyms

1110011F09Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

IGL03014 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

5149235-5157024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5154923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 41 (I41V)

Ref Sequence

ENSEMBL: ENSMUSP00000025804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000025804] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563]

AlphaFold

Q9D1G1

Predicted Effect

probably benign
Transcript: ENSMUST00000025798

SMART Domains

Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	239	4.1e-64	PFAM
Pfam:TPR_10	197	238	9.5e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
Pfam:TPR_10	448	483	1.5e-4	PFAM
low complexity region	496	507	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	592	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025804
AA Change: I41V

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025804
Gene: ENSMUSG00000024870
AA Change: I41V

Domain	Start	End	E-Value	Type
RAB	9	172	4.57e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113727

SMART Domains

Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	239	4.1e-64	PFAM
Pfam:TPR_10	197	238	9.5e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
Pfam:TPR_10	448	483	1.5e-4	PFAM
low complexity region	496	507	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	592	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113728

SMART Domains

Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	69	239	4.1e-64	PFAM
Pfam:TPR_10	197	238	9.5e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
Pfam:TPR_10	448	483	1.5e-4	PFAM
low complexity region	496	507	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	592	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116563

SMART Domains

Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862

Domain	Start	End	E-Value	Type
coiled coil region	80	140	N/A	INTRINSIC
Pfam:TPR_10	197	238	3.1e-9	PFAM
TPR	240	273	6.19e-1	SMART
TPR	282	315	1.16e-5	SMART
TPR	324	357	2.16e0	SMART
TPR	366	399	1.6e-3	SMART
low complexity region	416	428	N/A	INTRINSIC
Pfam:TPR_10	450	486	1.1e-4	PFAM
low complexity region	498	509	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	594	617	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142255

Meta Mutation Damage Score

0.3671

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion do not exhibit a detectable mutant phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
AW112010	A	G	19: 11,025,456 (GRCm39)		noncoding transcript	Het
Ccdc134	T	C	15: 82,014,306 (GRCm39)	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,329,861 (GRCm39)	V395F	probably damaging	Het
Cdh22	G	T	2: 164,954,331 (GRCm39)	S730*	probably null	Het
Cfap20dc	A	G	14: 8,431,608 (GRCm38)	*675Q	probably null	Het
Chrng	G	T	1: 87,138,759 (GRCm39)		probably null	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd2	G	T	4: 128,190,222 (GRCm39)	M387I	probably benign	Het
Cux1	T	C	5: 136,594,379 (GRCm39)		probably benign	Het
D130043K22Rik	C	T	13: 25,042,075 (GRCm39)	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,174,351 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dsn1	A	T	2: 156,838,739 (GRCm39)	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,876,218 (GRCm39)	Y461C	probably damaging	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Fbln2	T	C	6: 91,242,901 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,420,393 (GRCm39)	Y1010F	probably damaging	Het
Igha	A	G	12: 113,222,713 (GRCm39)	V236A	unknown	Het
Igsf9b	T	C	9: 27,233,932 (GRCm39)	M377T	probably benign	Het
Itga9	A	G	9: 118,457,212 (GRCm39)	T108A	probably benign	Het
Kcna3	A	T	3: 106,945,206 (GRCm39)	M490L	probably benign	Het
Lama3	A	T	18: 12,673,024 (GRCm39)	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,931,371 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Odr4	C	A	1: 150,258,804 (GRCm39)		probably benign	Het
Or1a1b	G	A	11: 74,097,653 (GRCm39)	L130F	probably damaging	Het
Or51a39	A	T	7: 102,362,753 (GRCm39)	V289E	probably null	Het
Pex10	A	G	4: 155,155,076 (GRCm39)		probably benign	Het
Plcl2	G	A	17: 50,918,029 (GRCm39)	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,329,294 (GRCm39)	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,212,308 (GRCm39)	L910Q	probably damaging	Het
Scpep1	T	A	11: 88,824,271 (GRCm39)		probably null	Het
Sergef	T	C	7: 46,240,180 (GRCm39)	T288A	probably damaging	Het
Setdb1	G	A	3: 95,248,726 (GRCm39)	P397S	probably damaging	Het
Setx	T	A	2: 29,029,423 (GRCm39)	D230E	probably damaging	Het
Sin3a	C	A	9: 57,002,539 (GRCm39)		probably benign	Het
Smad5	T	C	13: 56,883,754 (GRCm39)	L380P	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,532,675 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,715,500 (GRCm39)	D346G	probably benign	Het
Trav7d-4	T	A	14: 53,007,353 (GRCm39)	W12R	unknown	Het
Trmt1l	G	T	1: 151,333,681 (GRCm39)	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,458,198 (GRCm39)	T559K	probably damaging	Het
Vmn1r72	T	A	7: 11,403,711 (GRCm39)	I246F	possibly damaging	Het
Zfp618	A	T	4: 62,998,325 (GRCm39)	Q109L	probably damaging	Het

Other mutations in Rab1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01645:Rab1b	APN	19	5,154,962 (GRCm39)	unclassified	probably benign
R0594:Rab1b	UTSW	19	5,150,684 (GRCm39)	unclassified	probably benign
R0842:Rab1b	UTSW	19	5,154,697 (GRCm39)	missense	probably damaging	0.99
R1163:Rab1b	UTSW	19	5,154,684 (GRCm39)	nonsense	probably null
R1792:Rab1b	UTSW	19	5,150,513 (GRCm39)	missense	probably benign	0.02
R7231:Rab1b	UTSW	19	5,155,229 (GRCm39)	missense	probably damaging	0.98
R7636:Rab1b	UTSW	19	5,150,810 (GRCm39)	missense	probably damaging	1.00
R7895:Rab1b	UTSW	19	5,150,524 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGGAAGTGATGGTCCTG -3'
(R):5'- TTGCAAGTCCTAAGAACCAAGAGTG -3'

Sequencing Primer
(F):5'- TGAACCGCTCCTGACCAG -3'
(R):5'- CCAAGAGTGAGGCTGCTG -3'

Posted On

2017-02-01