Mutagenetix > Incidental Mutation

Incidental Mutation 'R0842:Rab1b'

77238

Institutional Source

Beutler Lab

Gene Symbol

Rab1b

Ensembl Gene

ENSMUSG00000024870

Gene Name

RAB1B, member RAS oncogene family

Synonyms

1110011F09Rik

MMRRC Submission

039021-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R0842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5149235-5157024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5154697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 84 (I84N)

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 damaging
Transcript: ENSMUST00000025804
AA Change: I84N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025804
Gene: ENSMUSG00000024870
AA Change: I84N

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl8	C	A	9: 21,746,972 (GRCm39)	Y53*	probably null	Het
Apbb1ip	G	A	2: 22,757,678 (GRCm39)	R432Q	possibly damaging	Het
Catsperb	A	T	12: 101,429,307 (GRCm39)	Q160L	probably damaging	Het
Cdhr18	G	A	14: 13,856,686 (GRCm38)	S475L	probably benign	Het
Cilp2	T	C	8: 70,335,768 (GRCm39)	Y410C	probably damaging	Het
Cntnap5a	G	A	1: 116,369,953 (GRCm39)	G857S	probably damaging	Het
D630045J12Rik	A	T	6: 38,125,400 (GRCm39)	V1538E	probably damaging	Het
Dnah7a	A	G	1: 53,540,833 (GRCm39)	S2514P	possibly damaging	Het
Eme1	C	T	11: 94,541,700 (GRCm39)	A41T	probably benign	Het
F11	T	C	8: 45,705,196 (GRCm39)	Y115C	probably damaging	Het
Fap	A	T	2: 62,367,345 (GRCm39)	W313R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Ggt6	T	A	11: 72,328,088 (GRCm39)	L158*	probably null	Het
Herc2	A	C	7: 55,771,453 (GRCm39)	I1072L	probably benign	Het
Hhat	T	C	1: 192,408,639 (GRCm39)	N164S	probably benign	Het
Klrb1	A	G	6: 128,687,008 (GRCm39)		probably null	Het
L3mbtl4	T	A	17: 68,793,957 (GRCm39)	D320E	probably benign	Het
Lyst	C	A	13: 13,852,826 (GRCm39)	Y2275*	probably null	Het
Map4k3	T	C	17: 80,913,412 (GRCm39)	N611S	probably benign	Het
Morc3	T	C	16: 93,670,284 (GRCm39)		probably null	Het
Mtr	A	C	13: 12,215,133 (GRCm39)	Y864D	probably damaging	Het
Myh2	C	T	11: 67,070,350 (GRCm39)	A431V	possibly damaging	Het
Myo9a	C	A	9: 59,778,350 (GRCm39)	Q1369K	probably benign	Het
Nalf1	T	A	8: 9,820,114 (GRCm39)	D302V	probably benign	Het
Nat3	T	C	8: 68,000,649 (GRCm39)	I176T	probably benign	Het
Ncapd3	C	T	9: 26,948,380 (GRCm39)	T54I	probably benign	Het
Nfyc	C	A	4: 120,616,574 (GRCm39)	E281D	probably benign	Het
Nlrp14	A	G	7: 106,782,342 (GRCm39)	D513G	probably benign	Het
Pacsin2	T	C	15: 83,263,382 (GRCm39)	E83G	probably damaging	Het
Plagl1	G	T	10: 13,004,298 (GRCm39)		probably benign	Het
Pmpcb	T	C	5: 21,953,772 (GRCm39)	L340P	possibly damaging	Het
Pou2af3	T	C	9: 51,183,668 (GRCm39)	E102G	probably benign	Het
Pou2f2	A	T	7: 24,796,355 (GRCm39)	L364Q	probably damaging	Het
Ric3	T	C	7: 108,638,087 (GRCm39)	Y222C	probably damaging	Het
Samhd1	A	G	2: 156,965,251 (GRCm39)	V188A	probably damaging	Het
Socs4	T	A	14: 47,527,426 (GRCm39)	H107Q	probably damaging	Het
Tex15	T	A	8: 34,061,575 (GRCm39)	I335K	possibly damaging	Het
Thoc2l	T	A	5: 104,667,066 (GRCm39)	N529K	possibly damaging	Het
Thop1	C	A	10: 80,911,411 (GRCm39)	T99K	probably damaging	Het
Tnik	A	G	3: 28,648,235 (GRCm39)	E429G	possibly damaging	Het
Vmn2r106	T	A	17: 20,488,465 (GRCm39)	I645F	probably damaging	Het
Zscan29	T	A	2: 120,991,960 (GRCm39)	R609S	possibly 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
IGL03014:Rab1b	UTSW	19	5,154,923 (GRCm39)	missense	probably benign	0.20
R0594:Rab1b	UTSW	19	5,150,684 (GRCm39)	unclassified	probably benign
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'- CCAATTGCTCCTCGAATCTGGAGAC -3'
(R):5'- CCATTGAGCTGGACGGCAAAAC -3'

Sequencing Primer
(F):5'- GGTTCTATCAAGACTCCATGACAGG -3'
(R):5'- TGGACGGCAAAACCATCAAAC -3'

Posted On

2013-10-16