Mutagenetix > Incidental Mutation

Incidental Mutation 'R5220:Rabggtb'

402257

Institutional Source

Beutler Lab

Gene Symbol

Rabggtb

Ensembl Gene

ENSMUSG00000038975

Gene Name

Rab geranylgeranyl transferase, b subunit

Synonyms

MMRRC Submission

042793-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153612926-153618603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153615024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 189 (F189L)

Ref Sequence

ENSEMBL: ENSMUSP00000129481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000089950] [ENSMUST00000167111] [ENSMUST00000188338] [ENSMUST00000196956] [ENSMUST00000196565] [ENSMUST00000196266] [ENSMUST00000200631] [ENSMUST00000190449] [ENSMUST00000200209] [ENSMUST00000197438]

AlphaFold

P53612

PDB Structure

Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 and lipid substrate GGPP [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS-analogue 14 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000005630

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:MutS_II	177	321	2.3e-20	PFAM
MUTSd	352	679	3.77e-37	SMART
MUTSac	695	888	1.6e-81	SMART
Blast:MUTSac	912	956	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083804

Predicted Effect

probably damaging
Transcript: ENSMUST00000089950
AA Change: F181L

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

SMART Domains

Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975
AA Change: F181L

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	66	109	3e-11	PFAM
Pfam:Prenyltrans_2	72	183	1.1e-19	PFAM
Pfam:Prenyltrans	114	157	2.2e-14	PFAM
Pfam:Prenyltrans_1	116	214	1.7e-9	PFAM
Pfam:Prenyltrans	162	205	8.1e-18	PFAM
Pfam:Prenyltrans	210	253	3.1e-15	PFAM
Pfam:Prenyltrans	258	302	3.3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167111
AA Change: F189L

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

SMART Domains

Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975
AA Change: F189L

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	117	5.9e-12	PFAM
Pfam:Prenyltrans	122	165	8.4e-15	PFAM
Pfam:Prenyltrans	170	213	2.2e-18	PFAM
Pfam:Prenyltrans	218	261	1.2e-15	PFAM
Pfam:Prenyltrans	266	310	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188338

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493

Domain	Start	End	E-Value	Type
Pfam:MutS_II	89	233	5.3e-19	PFAM
MUTSd	264	591	9.4e-40	SMART
MUTSac	607	800	4.2e-84	SMART
Blast:MUTSac	808	866	4e-17	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000196956
AA Change: F189L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975
AA Change: F189L

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	117	2e-9	PFAM
Pfam:Prenyltrans_2	80	191	3.8e-18	PFAM
Pfam:Prenyltrans	122	165	1.4e-12	PFAM
Pfam:Prenyltrans_1	124	202	4.8e-7	PFAM
Pfam:Prenyltrans	170	201	9.5e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197294

Predicted Effect

probably benign
Transcript: ENSMUST00000196565

SMART Domains

Protein: ENSMUSP00000143258
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196266

SMART Domains

Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans_2	32	143	9e-10	PFAM
Pfam:Prenyltrans	74	117	8.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200631

SMART Domains

Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	112	5.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190449

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493

Domain	Start	End	E-Value	Type
Pfam:MutS_II	1	127	3.3e-15	PFAM
MUTSd	158	485	9.4e-40	SMART
MUTSac	501	694	4.2e-84	SMART
Blast:MUTSac	702	760	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000198350

Predicted Effect

probably benign
Transcript: ENSMUST00000200209

SMART Domains

Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans_2	32	143	9e-10	PFAM
Pfam:Prenyltrans	74	117	8.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197438

SMART Domains

Protein: ENSMUSP00000143551
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	112	1.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197829

Predicted Effect

probably benign
Transcript: ENSMUST00000198094

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,738,045 (GRCm39)	E250G	probably damaging	Het
Adgra1	A	G	7: 139,455,512 (GRCm39)	N380S	probably benign	Het
Ap3d1	G	A	10: 80,563,001 (GRCm39)	P160L	probably damaging	Het
Atg9a	C	T	1: 75,162,372 (GRCm39)	V505M	probably damaging	Het
Chsy3	A	T	18: 59,543,102 (GRCm39)	I747F	probably damaging	Het
Clec2g	A	G	6: 128,958,269 (GRCm39)	S100G	probably benign	Het
Cmya5	G	T	13: 93,228,804 (GRCm39)	P2095T	probably damaging	Het
Dcaf10	T	C	4: 45,373,909 (GRCm39)	W445R	possibly damaging	Het
Espl1	T	A	15: 102,207,012 (GRCm39)	L159M	probably benign	Het
Fbxw8	T	C	5: 118,233,776 (GRCm39)	D285G	possibly damaging	Het
Fras1	C	T	5: 96,916,222 (GRCm39)	R3419W	probably damaging	Het
Galc	T	A	12: 98,197,672 (GRCm39)		probably null	Het
Ghdc	T	C	11: 100,660,543 (GRCm39)	E110G	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
H2-T24	T	C	17: 36,325,562 (GRCm39)	T309A	probably benign	Het
Helb	A	C	10: 119,937,391 (GRCm39)	F618V	probably damaging	Het
Hycc1	A	C	5: 24,170,220 (GRCm39)	S376R	possibly damaging	Het
Ifi211	A	G	1: 173,735,262 (GRCm39)	F56L	probably damaging	Het
Kntc1	T	C	5: 123,950,160 (GRCm39)	F1988L	probably damaging	Het
Mapk13	G	A	17: 28,997,465 (GRCm39)	S361N	probably benign	Het
Mapk3	A	G	7: 126,363,408 (GRCm39)	I146V	probably benign	Het
Megf6	G	A	4: 154,338,295 (GRCm39)		probably null	Het
Mug1	G	T	6: 121,838,092 (GRCm39)	V441F	probably benign	Het
Mymk	A	G	2: 26,952,226 (GRCm39)	S173P	probably benign	Het
Nox4	A	G	7: 87,023,616 (GRCm39)	T501A	possibly damaging	Het
Or13c7	C	A	4: 43,854,624 (GRCm39)	S105Y	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52n2	T	C	7: 104,542,104 (GRCm39)	T244A	possibly damaging	Het
Prkcb	C	A	7: 121,888,678 (GRCm39)	H37Q	probably damaging	Het
Setd1b	T	C	5: 123,281,471 (GRCm39)	I75T	unknown	Het
Slc10a5	T	A	3: 10,400,148 (GRCm39)	R171*	probably null	Het
Slc12a4	A	G	8: 106,680,484 (GRCm39)	F211L	probably damaging	Het
Slc1a5	T	A	7: 16,527,759 (GRCm39)	W352R	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
St8sia4	A	G	1: 95,555,460 (GRCm39)	M190T	probably damaging	Het
Tmeff2	A	G	1: 51,018,476 (GRCm39)	M153V	probably benign	Het
Trappc12	T	C	12: 28,796,696 (GRCm39)	T279A	probably damaging	Het
Ubn1	G	T	16: 4,895,818 (GRCm39)	A955S	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Vrk1	T	A	12: 106,039,865 (GRCm39)		probably null	Het
Zdhhc25	T	A	15: 88,485,365 (GRCm39)	Y233*	probably null	Het
Zfp109	A	G	7: 23,928,179 (GRCm39)	V418A	probably benign	Het

Other mutations in Rabggtb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Rabggtb	APN	3	153,615,896 (GRCm39)	critical splice donor site	probably null
IGL01939:Rabggtb	APN	3	153,617,650 (GRCm39)	missense	probably damaging	0.98
R0088:Rabggtb	UTSW	3	153,614,467 (GRCm39)	missense	probably damaging	1.00
R0348:Rabggtb	UTSW	3	153,615,954 (GRCm39)	missense	probably damaging	1.00
R3883:Rabggtb	UTSW	3	153,616,417 (GRCm39)	missense	probably damaging	1.00
R4884:Rabggtb	UTSW	3	153,617,568 (GRCm39)	missense	possibly damaging	0.66
R7090:Rabggtb	UTSW	3	153,615,986 (GRCm39)	missense	probably benign	0.01
R7996:Rabggtb	UTSW	3	153,617,605 (GRCm39)	missense	probably damaging	1.00
R9381:Rabggtb	UTSW	3	153,613,817 (GRCm39)	missense	probably damaging	1.00
Z1177:Rabggtb	UTSW	3	153,613,322 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACAGTAAGCCTCGAGGTC -3'
(R):5'- CAACTTTGGCTCTTTTGGTAAGC -3'

Sequencing Primer
(F):5'- TAAGCCTCGAGGTCAGTTAAC -3'
(R):5'- CTTTGACTGTTGCATTAAAGGACCG -3'

Posted On

2016-07-22