Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Rabggtb'

709999

Institutional Source

Beutler Lab

Gene Symbol

Rabggtb

Ensembl Gene

ENSMUSG00000038975

Gene Name

Rab geranylgeranyl transferase, b subunit

Synonyms

MMRRC Submission

068992-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R9381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153612926-153618603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153613817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 252 (W252R)

Ref Sequence

ENSEMBL: ENSMUSP00000129481 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000089950
AA Change: W244R

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

SMART Domains

Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975
AA Change: W244R

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: W252R

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

SMART Domains

Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975
AA Change: W252R

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 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: 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: 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: ENSMUST00000196956

SMART Domains

Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975

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: 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

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: ENSMUST00000200631

SMART Domains

Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9930111J21Rik1	T	A	11: 48,839,204 (GRCm39)	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,135,881 (GRCm39)	Y261C	probably damaging	Het
Acadl	T	C	1: 66,893,805 (GRCm39)	T117A	probably benign	Het
Adamts15	A	G	9: 30,813,816 (GRCm39)	V783A	probably damaging	Het
Aff1	A	T	5: 103,981,733 (GRCm39)	Q624L	possibly damaging	Het
Afg3l2	T	G	18: 67,575,451 (GRCm39)	E74A	probably damaging	Het
Aig1	T	C	10: 13,523,417 (GRCm39)	E238G	probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,272,979 (GRCm39)	Y958F	probably damaging	Het
Arhgef28	C	A	13: 98,036,269 (GRCm39)	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,051,088 (GRCm39)	L475P	probably damaging	Het
Atg9a	T	A	1: 75,162,726 (GRCm39)	M430L	probably benign	Het
Bco1	T	A	8: 117,837,631 (GRCm39)	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,642,244 (GRCm39)	L396P	probably damaging	Het
C5ar2	A	T	7: 15,970,887 (GRCm39)	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 179,969,048 (GRCm39)	S1212P	probably damaging	Het
Ceacam3	C	G	7: 16,893,715 (GRCm39)	Q409E		Het
Ces3b	T	C	8: 105,811,670 (GRCm39)	V62A	probably benign	Het
Dalrd3	A	G	9: 108,448,242 (GRCm39)		probably null	Het
Ddhd2	G	T	8: 26,239,849 (GRCm39)	A288E	probably benign	Het
Dnah17	T	A	11: 117,914,219 (GRCm39)	M4435L	probably benign	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,030,384 (GRCm39)	Y168H	unknown	Het
Elavl2	T	C	4: 91,197,009 (GRCm39)	N23S	probably benign	Het
Elfn1	T	C	5: 139,959,462 (GRCm39)	V822A	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Exoc5	C	T	14: 49,275,194 (GRCm39)	S202N	probably benign	Het
Fryl	T	C	5: 73,240,637 (GRCm39)	D1321G	probably benign	Het
Gm12258	C	T	11: 58,750,007 (GRCm39)	T394I	unknown	Het
Gm28363	T	A	1: 117,654,615 (GRCm39)	S85T	probably damaging	Het
H2-Q1	A	G	17: 35,542,138 (GRCm39)	T237A	probably damaging	Het
Hectd4	A	T	5: 121,472,492 (GRCm39)	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,812,692 (GRCm39)	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,629,598 (GRCm39)	N63S	probably benign	Het
Il20rb	A	G	9: 100,343,541 (GRCm39)	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,668,253 (GRCm39)	F439I	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2a	T	C	11: 100,602,692 (GRCm39)	Q132R	possibly damaging	Het
Kcnq2	A	G	2: 180,751,562 (GRCm39)	I278T	probably damaging	Het
Lama1	T	C	17: 68,044,479 (GRCm39)	V126A		Het
Lama2	T	A	10: 27,064,023 (GRCm39)	R1285*	probably null	Het
Larp1	A	G	11: 57,949,532 (GRCm39)	T1054A	probably benign	Het
Lrp1	A	T	10: 127,441,337 (GRCm39)	M262K	probably benign	Het
Lrrd1	A	G	5: 3,901,074 (GRCm39)	I460V	probably benign	Het
Ltbp1	A	T	17: 75,696,434 (GRCm39)	N1606I	probably damaging	Het
Mdga2	T	C	12: 66,597,304 (GRCm39)	N730S	possibly damaging	Het
Mpzl1	T	C	1: 165,429,323 (GRCm39)	H236R	probably damaging	Het
Mrps31	G	A	8: 22,904,752 (GRCm39)	R47K	probably damaging	Het
Nae1	A	T	8: 105,250,239 (GRCm39)	I218K	probably benign	Het
Npy2r	T	C	3: 82,448,356 (GRCm39)	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,439,468 (GRCm39)	L350F	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or51d1	A	T	7: 102,347,654 (GRCm39)	M70L	probably damaging	Het
Or5b124	G	T	19: 13,610,647 (GRCm39)	M57I	probably damaging	Het
Or5p50	A	C	7: 107,421,812 (GRCm39)	L288W	probably damaging	Het
Pabpc1l	G	T	2: 163,867,423 (GRCm39)	C8F	probably benign	Het
Pafah1b3	A	C	7: 24,994,699 (GRCm39)	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,841,371 (GRCm39)	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,462,441 (GRCm39)	M399L	probably benign	Het
Prpsap2	T	C	11: 61,635,782 (GRCm39)	I173V	probably benign	Het
Raph1	A	G	1: 60,540,959 (GRCm39)	F351L	unknown	Het
Rasd2	T	C	8: 75,948,589 (GRCm39)	S172P	probably damaging	Het
Rbm15	T	C	3: 107,238,752 (GRCm39)	T549A	probably benign	Het
Reln	A	G	5: 22,549,202 (GRCm39)	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,147,643 (GRCm39)	N439K	probably benign	Het
Scap	C	A	9: 110,207,839 (GRCm39)	A516D	probably damaging	Het
Selplg	T	C	5: 113,957,917 (GRCm39)	T130A	probably benign	Het
Slc12a7	A	G	13: 73,949,063 (GRCm39)	M697V	probably benign	Het
Slc22a29	A	G	19: 8,195,841 (GRCm39)	I66T	probably benign	Het
Slco1a7	T	C	6: 141,711,490 (GRCm39)	I74V	probably benign	Het
Snrnp48	A	C	13: 38,404,667 (GRCm39)	I241L	probably damaging	Het
Sptb	C	T	12: 76,634,292 (GRCm39)	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,333 (GRCm39)	S192P	probably benign	Het
Svil	A	T	18: 5,099,013 (GRCm39)	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,101,139 (GRCm39)	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,695,141 (GRCm39)	E277G	probably benign	Het
Tmtc4	T	G	14: 123,163,441 (GRCm39)	I648L	probably benign	Het
Togaram1	T	C	12: 65,014,204 (GRCm39)	V485A	probably damaging	Het
Trim43b	T	C	9: 88,969,642 (GRCm39)	I269V	probably benign	Het
Trpm2	T	A	10: 77,747,191 (GRCm39)	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,168,722 (GRCm39)	I106F	possibly damaging	Het
Vdr	G	A	15: 97,755,333 (GRCm39)	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433 (GRCm39)	S689P	probably benign	Het
Wipf2	A	G	11: 98,787,068 (GRCm39)	T366A	probably damaging	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,373,932 (GRCm39)	T694I	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
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
Z1177:Rabggtb	UTSW	3	153,613,322 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGACTATTTCTTACAGGGCAC -3'
(R):5'- TAGCTACAGTGCTGAGGTGG -3'

Sequencing Primer
(F):5'- TGCCTATAACCATGAAAGTCAATC -3'
(R):5'- AGGCAGCTGTCTTACTG -3'

Posted On

2022-04-18