Mutagenetix > Incidental Mutation

Incidental Mutation 'R3883:Rabggtb'

308810

Institutional Source

Beutler Lab

Gene Symbol

Rabggtb

Ensembl Gene

ENSMUSG00000038975

Gene Name

Rab geranylgeranyl transferase, b subunit

Synonyms

MMRRC Submission

040796-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R3883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153612926-153618603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153616417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 82 (F82L)

Ref Sequence

ENSEMBL: ENSMUSP00000143551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000089950] [ENSMUST00000167111] [ENSMUST00000196266] [ENSMUST00000196956] [ENSMUST00000197438] [ENSMUST00000200209] [ENSMUST00000200631] [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: F74L

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975
AA Change: F74L

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: F82L

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

SMART Domains

Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975
AA Change: F82L

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: F82L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975
AA Change: F82L

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

Predicted Effect

unknown
Transcript: ENSMUST00000198094
AA Change: F80L

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196956
AA Change: F82L

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975
AA Change: F82L

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 damaging
Transcript: ENSMUST00000197438
AA Change: F82L

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

SMART Domains

Protein: ENSMUSP00000143551
Gene: ENSMUSG00000038975
AA Change: F82L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200209
AA Change: F82L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975
AA Change: F82L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200631
AA Change: F82L

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975
AA Change: F82L

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

Predicted Effect

unknown
Transcript: ENSMUST00000198350
AA Change: F77L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197147

Predicted Effect

probably benign
Transcript: ENSMUST00000197829

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

Meta Mutation Damage Score

0.8200

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (45/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	C	T	8: 46,980,228 (GRCm39)	S423L	probably benign	Het
Ankmy1	T	G	1: 92,813,874 (GRCm39)	E435A	probably damaging	Het
Ano5	T	A	7: 51,216,052 (GRCm39)	M343K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
C3	T	C	17: 57,524,173 (GRCm39)		probably null	Het
Cdk17	T	C	10: 93,047,939 (GRCm39)		probably null	Het
Cntn2	A	G	1: 132,456,677 (GRCm39)	V123A	probably damaging	Het
Cracd	T	A	5: 77,004,421 (GRCm39)	W261R	unknown	Het
Dchs1	A	G	7: 105,411,770 (GRCm39)	Y1449H	probably damaging	Het
Ddx42	T	A	11: 106,138,518 (GRCm39)	N772K	probably benign	Het
Dnah11	T	C	12: 117,942,188 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,455,382 (GRCm39)	F4L	probably benign	Het
Epb41l3	C	T	17: 69,581,111 (GRCm39)	R552*	probably null	Het
Epc1	T	C	18: 6,452,258 (GRCm39)	D267G	possibly damaging	Het
Fbxo22	A	T	9: 55,130,546 (GRCm39)	T169S	probably benign	Het
Fmnl1	A	G	11: 103,072,940 (GRCm39)	N144D	probably damaging	Het
Folh1	A	G	7: 86,424,864 (GRCm39)	L35P	possibly damaging	Het
Gm10220	A	C	5: 26,321,908 (GRCm39)	S255A	possibly damaging	Het
Gm15446	G	T	5: 110,088,313 (GRCm39)	V9L	probably damaging	Het
Hipk2	A	G	6: 38,676,200 (GRCm39)	L1011P	probably damaging	Het
Kif4-ps	G	T	12: 101,112,473 (GRCm39)	V201L	probably damaging	Het
Klk1b16	T	C	7: 43,788,887 (GRCm39)	V40A	possibly damaging	Het
Lgsn	C	A	1: 31,215,540 (GRCm39)	D3E	probably benign	Het
Mavs	T	C	2: 131,087,218 (GRCm39)	S239P	probably benign	Het
Mrtfb	T	A	16: 13,219,322 (GRCm39)	V667D	probably damaging	Het
Mtrf1	A	G	14: 79,656,707 (GRCm39)	Y403C	probably damaging	Het
Mycbp2	A	C	14: 103,532,686 (GRCm39)	L390V	probably damaging	Het
Neto2	A	G	8: 86,389,894 (GRCm39)	S190P	probably damaging	Het
Ngly1	A	G	14: 16,270,574 (GRCm38)	I195V	probably damaging	Het
Or10d4c	A	G	9: 39,558,420 (GRCm39)	I133V	probably benign	Het
Or13p5	T	C	4: 118,591,882 (GRCm39)	I52T	probably benign	Het
Pde4dip	T	C	3: 97,620,504 (GRCm39)	K1632E	probably damaging	Het
Pigk	T	C	3: 152,419,832 (GRCm39)	S21P	probably benign	Het
Reep6	G	A	10: 80,171,369 (GRCm39)	R415Q	probably benign	Het
Serpinb13	T	C	1: 106,926,302 (GRCm39)	V159A	probably benign	Het
Slc5a8	T	A	10: 88,738,325 (GRCm39)	M196K	possibly damaging	Het
Sprr1a	G	A	3: 92,391,827 (GRCm39)	P58L	probably damaging	Het
Taf1a	A	T	1: 183,172,288 (GRCm39)	T10S	possibly damaging	Het
Tap1	T	A	17: 34,412,232 (GRCm39)	V479E	probably damaging	Het
Trpm4	C	T	7: 44,971,422 (GRCm39)		probably null	Het
Ush2a	T	C	1: 187,995,579 (GRCm39)	Y117H	probably benign	Het
Vmn2r58	A	T	7: 41,513,914 (GRCm39)	L243*	probably null	Het
Zbtb32	A	G	7: 30,290,569 (GRCm39)	I242T	probably benign	Het
Zbtb7a	T	C	10: 80,983,859 (GRCm39)	C434R	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
R0348:Rabggtb	UTSW	3	153,615,954 (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'- AACTTGCATCAGGTTAGCATTCAG -3'
(R):5'- CGCCACTCTAAAGCCTTACGAG -3'

Sequencing Primer
(F):5'- GCATTCAGCTAATACATGCCATG -3'
(R):5'- ACGAGTTGTTCACAGCTGAC -3'

Posted On

2015-04-17