Mutagenetix > Incidental Mutation

Incidental Mutation 'R0348:Rabggtb'

35978

Institutional Source

Beutler Lab

Gene Symbol

Rabggtb

Ensembl Gene

ENSMUSG00000038975

Gene Name

Rab geranylgeranyl transferase, b subunit

Synonyms

MMRRC Submission

038555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R0348 (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 153615954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 128 (V128A)

Ref Sequence

ENSEMBL: ENSMUSP00000143452 (fasta)

Gene Model

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

AlphaFold

P53612

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 benign
Transcript: ENSMUST00000089950
AA Change: V120A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975
AA Change: V120A

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 benign
Transcript: ENSMUST00000167111
AA Change: V128A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975
AA Change: V128A

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 damaging
Transcript: ENSMUST00000196266
AA Change: V128A

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

SMART Domains

Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975
AA Change: V128A

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 damaging
Transcript: ENSMUST00000200209
AA Change: V128A

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

SMART Domains

Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975
AA Change: V128A

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: ENSMUST00000196956
AA Change: V128A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975
AA Change: V128A

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

probably benign
Transcript: ENSMUST00000200631
AA Change: W115R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975
AA Change: W115R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198094
AA Change: V126A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000198350
AA Change: V123A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000197829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197147

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: ENSMUST00000196565

SMART Domains

Protein: ENSMUSP00000143258
Gene: ENSMUSG00000038975

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,987 (GRCm39)	D34G	probably benign	Het
Adam6a	T	C	12: 113,508,337 (GRCm39)	S237P	probably damaging	Het
Adamts13	A	C	2: 26,871,092 (GRCm39)	D235A	probably benign	Het
Adgb	T	A	10: 10,233,623 (GRCm39)	M1259L	probably benign	Het
Apbb1	T	C	7: 105,214,510 (GRCm39)	Q529R	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camta1	T	C	4: 151,670,888 (GRCm39)	T96A	possibly damaging	Het
Ccdc148	A	T	2: 58,894,084 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,703,240 (GRCm39)	Y568H	probably damaging	Het
Clca4b	A	T	3: 144,627,741 (GRCm39)	I410N	probably damaging	Het
Cnot10	G	A	9: 114,427,838 (GRCm39)	T592I	probably benign	Het
Col6a3	C	T	1: 90,755,771 (GRCm39)	A173T	probably damaging	Het
Ctcf	T	A	8: 106,402,789 (GRCm39)	C560*	probably null	Het
Daglb	G	A	5: 143,472,951 (GRCm39)	V369I	probably benign	Het
Defb19	G	A	2: 152,422,146 (GRCm39)	L8F	unknown	Het
Emcn	G	T	3: 137,078,608 (GRCm39)	E65*	probably null	Het
Etl4	G	T	2: 20,782,940 (GRCm39)	R753L	probably damaging	Het
Fam151b	T	C	13: 92,586,689 (GRCm39)	Y248C	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gjd4	A	G	18: 9,280,964 (GRCm39)	V38A	possibly damaging	Het
Hivep1	T	C	13: 42,311,855 (GRCm39)	V1365A	possibly damaging	Het
Hivep2	T	C	10: 14,005,702 (GRCm39)	S767P	possibly damaging	Het
Hoxa6	T	C	6: 52,183,548 (GRCm39)	T166A	possibly damaging	Het
Ift80	G	T	3: 68,843,232 (GRCm39)	L367I	probably benign	Het
Igf2bp1	T	C	11: 95,859,719 (GRCm39)	N369S	possibly damaging	Het
Igsf11	C	A	16: 38,829,179 (GRCm39)	D24E	probably benign	Het
Ints5	C	T	19: 8,873,114 (GRCm39)	L358F	probably damaging	Het
Kbtbd3	A	G	9: 4,330,519 (GRCm39)	T298A	possibly damaging	Het
Kif28	C	A	1: 179,558,818 (GRCm39)	V297F	probably damaging	Het
Krt12	T	C	11: 99,308,771 (GRCm39)	Y422C	probably damaging	Het
Lig1	T	A	7: 13,043,122 (GRCm39)	W856R	probably damaging	Het
Liph	C	T	16: 21,786,730 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,849,317 (GRCm39)	C1012*	probably null	Het
Lrit1	A	G	14: 36,782,182 (GRCm39)	E285G	probably damaging	Het
Lrrc31	A	G	3: 30,743,377 (GRCm39)	V196A	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Mllt10	T	C	2: 18,167,424 (GRCm39)	Y372H	probably damaging	Het
Mrpl50	A	T	4: 49,514,515 (GRCm39)	V52E	probably damaging	Het
Mthfd1l	T	C	10: 4,006,766 (GRCm39)	V676A	probably damaging	Het
Ncl	C	T	1: 86,284,362 (GRCm39)	D245N	possibly damaging	Het
Neil1	A	T	9: 57,054,065 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,818,827 (GRCm39)	E515G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,108 (GRCm39)	E70G	possibly damaging	Het
Nme3	A	T	17: 25,115,491 (GRCm39)	I2F	possibly damaging	Het
Nup210	G	A	6: 91,051,292 (GRCm39)	H364Y	probably benign	Het
Nxpe3	T	A	16: 55,686,898 (GRCm39)	T37S	probably benign	Het
Olfm1	T	A	2: 28,102,554 (GRCm39)	M76K	probably benign	Het
Pgbd5	A	T	8: 125,160,771 (GRCm39)	V32E	probably damaging	Het
Plcb4	T	C	2: 135,810,339 (GRCm39)	M646T	probably damaging	Het
Plekha7	G	A	7: 115,757,255 (GRCm39)	P565L	probably damaging	Het
Poc5	A	G	13: 96,535,374 (GRCm39)	D213G	probably null	Het
Poli	A	G	18: 70,656,452 (GRCm39)	I125T	probably benign	Het
Ppm1f	T	C	16: 16,721,254 (GRCm39)	M1T	probably null	Het
Psmd7	T	C	8: 108,307,523 (GRCm39)	K320R	unknown	Het
Rasa2	A	T	9: 96,454,012 (GRCm39)	L308H	probably damaging	Het
Serpina1d	C	T	12: 103,730,034 (GRCm39)	V383M	probably benign	Het
Sipa1l1	T	C	12: 82,431,530 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,740 (GRCm39)	T1006A	probably benign	Het
Sugp1	T	A	8: 70,522,658 (GRCm39)	Y453N	probably damaging	Het
Taf3	A	T	2: 10,047,455 (GRCm39)	D64E	probably benign	Het
Tcf19	A	T	17: 35,826,801 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,868 (GRCm39)	H127L	probably damaging	Het
Tubb4a	C	T	17: 57,387,770 (GRCm39)	V419M	probably damaging	Het
Vmn2r22	G	T	6: 123,614,684 (GRCm39)	T302K	probably damaging	Het
Vmn2r68	T	G	7: 84,870,884 (GRCm39)	T800P	possibly damaging	Het
Zfhx2	A	C	14: 55,300,965 (GRCm39)	V2262G	probably damaging	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
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
R5220:Rabggtb	UTSW	3	153,615,024 (GRCm39)	missense	probably damaging	1.00
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'- CTGCTTAGTGGGACCTGAAAAGACG -3'
(R):5'- GACCTTGGAAGGTGAACTCCTTGTG -3'

Sequencing Primer
(F):5'- CCTGAAAAGACGGAACAACTTG -3'
(R):5'- GTTAATTGAAGCACAGTCCAGTTC -3'

Posted On

2013-05-09