Mutagenetix > Incidental Mutation

Incidental Mutation 'R8038:Rabggta'

618356

Institutional Source

Beutler Lab

Gene Symbol

Rabggta

Ensembl Gene

ENSMUSG00000040472

Gene Name

Rab geranylgeranyl transferase, a subunit

Synonyms

MMRRC Submission

067475-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R8038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55953321-55959720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55956387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 361 (S361T)

Ref Sequence

ENSEMBL: ENSMUSP00000128668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000169237] [ENSMUST00000227061]

AlphaFold

Q9JHK4

Predicted Effect

probably benign
Transcript: ENSMUST00000062861
AA Change: S91T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: S91T

Domain	Start	End	E-Value	Type
Pfam:PPTA	47	77	2.9e-8	PFAM
Pfam:PPTA	91	121	2e-12	PFAM
Pfam:PPTA	127	156	7.6e-11	PFAM
Pfam:PPTA	162	192	3.8e-12	PFAM
Pfam:PPTA	210	240	7.8e-12	PFAM
Pfam:RabGGT_insert	243	346	5.3e-47	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163889
AA Change: S361T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: S361T

Domain	Start	End	E-Value	Type
Pfam:PPTA	47	77	2.9e-8	PFAM
Pfam:PPTA	91	121	2e-12	PFAM
Pfam:PPTA	127	156	7.6e-11	PFAM
Pfam:PPTA	162	192	3.8e-12	PFAM
Pfam:PPTA	210	240	7.8e-12	PFAM
Pfam:RabGGT_insert	243	346	5.3e-47	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169237
AA Change: S361T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: S361T

Domain	Start	End	E-Value	Type
Pfam:PPTA	92	119	3.6e-12	PFAM
Pfam:PPTA	128	154	1.2e-10	PFAM
Pfam:PPTA	163	190	2e-11	PFAM
Pfam:PPTA	211	238	9e-12	PFAM
Pfam:RabGGT_insert	244	346	1.9e-46	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227061
AA Change: S361T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0634

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,106,730 (GRCm39)	M143K	probably damaging	Het
Accs	A	T	2: 93,673,262 (GRCm39)		probably null	Het
Alkbh5	T	C	11: 60,429,811 (GRCm39)	V188A	probably damaging	Het
Cacna1h	C	T	17: 25,594,865 (GRCm39)	V2098I	probably damaging	Het
Chuk	A	G	19: 44,067,416 (GRCm39)	Y580H	probably damaging	Het
Col7a1	A	G	9: 108,786,360 (GRCm39)	N530S	unknown	Het
Cops2	A	T	2: 125,674,206 (GRCm39)	H420Q	probably benign	Het
Ctcfl	A	T	2: 172,943,698 (GRCm39)	C551S	probably damaging	Het
Depdc5	T	C	5: 33,116,692 (GRCm39)		probably null	Het
Dnmt1	A	C	9: 20,852,860 (GRCm39)	V82G	probably damaging	Het
Fam90a1a	A	T	8: 22,453,455 (GRCm39)	N270I	possibly damaging	Het
Foxn4	T	C	5: 114,394,658 (GRCm39)	D423G	probably damaging	Het
Hoxa5	A	G	6: 52,181,309 (GRCm39)	S8P	probably damaging	Het
Ighe	A	T	12: 113,233,053 (GRCm39)	V456D		Het
Ighv1-52	A	G	12: 115,109,210 (GRCm39)	F83S	probably damaging	Het
Itga2	A	T	13: 114,990,291 (GRCm39)	N921K	probably damaging	Het
Kdm2b	T	C	5: 123,098,958 (GRCm39)		probably benign	Het
Llgl2	T	G	11: 115,741,929 (GRCm39)	M657R	probably benign	Het
Lrrcc1	T	A	3: 14,630,890 (GRCm39)	I1019K	possibly damaging	Het
Lrriq3	A	T	3: 154,869,638 (GRCm39)	D321V	probably benign	Het
Lsm10	T	C	4: 125,991,890 (GRCm39)	V82A	probably damaging	Het
Mettl3	A	G	14: 52,537,421 (GRCm39)	S154P	possibly damaging	Het
Naip2	T	C	13: 100,298,570 (GRCm39)	I489V	probably benign	Het
Nat8f5	T	A	6: 85,794,667 (GRCm39)	T98S	possibly damaging	Het
Or10w1	G	A	19: 13,632,719 (GRCm39)	V309M	possibly damaging	Het
Or4c113	A	T	2: 88,885,212 (GRCm39)	L186Q	probably damaging	Het
Or7e166	G	T	9: 19,624,976 (GRCm39)	M284I	possibly damaging	Het
Or8d6	T	A	9: 39,854,177 (GRCm39)	V207D	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pld5	T	C	1: 175,872,463 (GRCm39)	I225V	probably benign	Het
Ppfia1	C	A	7: 144,068,653 (GRCm39)	A414S	possibly damaging	Het
Ppib	T	C	9: 65,967,615 (GRCm39)	V23A	probably benign	Het
Rap1gap2	T	C	11: 74,283,109 (GRCm39)	S664G	probably benign	Het
Recql5	A	G	11: 115,818,178 (GRCm39)	V285A	possibly damaging	Het
Rtn4rl1	G	C	11: 75,156,707 (GRCm39)	E380Q	possibly damaging	Het
Scarb2	A	T	5: 92,599,307 (GRCm39)	S338T	probably damaging	Het
Skint4	T	G	4: 111,977,003 (GRCm39)		probably benign	Het
Slc13a5	T	C	11: 72,144,196 (GRCm39)	K294R	probably benign	Het
Spib	A	G	7: 44,179,310 (GRCm39)	F32S	probably benign	Het
Spint2	A	G	7: 28,959,554 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,045,571 (GRCm39)	D16E	probably damaging	Het
Tab1	A	G	15: 80,044,471 (GRCm39)	T500A	probably benign	Het
Tecpr2	T	C	12: 110,902,854 (GRCm39)	F860L	probably benign	Het
Tg	A	G	15: 66,560,724 (GRCm39)	M1029V	probably benign	Het
Tmem126b	C	T	7: 90,118,830 (GRCm39)	V153I	probably benign	Het
Uba2	A	T	7: 33,847,022 (GRCm39)	Y440N	probably damaging	Het
Vwa2	A	G	19: 56,886,320 (GRCm39)	E129G	probably benign	Het
Wapl	A	G	14: 34,413,639 (GRCm39)	D167G	probably benign	Het
Zfp64	A	G	2: 168,741,932 (GRCm39)	F332S	probably damaging	Het
Zfp786	C	T	6: 47,798,188 (GRCm39)	R250H	probably benign	Het

Other mutations in Rabggta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Rabggta	APN	14	55,956,128 (GRCm39)	missense	probably damaging	0.98
IGL02263:Rabggta	APN	14	55,956,418 (GRCm39)	splice site	probably benign
IGL02293:Rabggta	APN	14	55,959,153 (GRCm39)	missense	probably benign	0.27
IGL02377:Rabggta	APN	14	55,955,952 (GRCm39)	missense	possibly damaging	0.66
IGL02901:Rabggta	APN	14	55,959,138 (GRCm39)	missense	probably benign	0.41
IGL03004:Rabggta	APN	14	55,956,687 (GRCm39)	splice site	probably benign
R0334:Rabggta	UTSW	14	55,958,268 (GRCm39)	missense	probably damaging	1.00
R1914:Rabggta	UTSW	14	55,958,646 (GRCm39)	missense	possibly damaging	0.73
R2926:Rabggta	UTSW	14	55,956,747 (GRCm39)	missense	probably benign	0.00
R4469:Rabggta	UTSW	14	55,953,944 (GRCm39)	missense	probably benign	0.00
R5584:Rabggta	UTSW	14	55,958,289 (GRCm39)	missense	probably benign
R6721:Rabggta	UTSW	14	55,954,660 (GRCm39)	missense	probably damaging	1.00
R6960:Rabggta	UTSW	14	55,959,299 (GRCm39)	critical splice donor site	probably null
R7169:Rabggta	UTSW	14	55,958,358 (GRCm39)	missense	probably damaging	0.99
R7447:Rabggta	UTSW	14	55,956,773 (GRCm39)	missense	probably null	0.11
R7805:Rabggta	UTSW	14	55,956,969 (GRCm39)	missense	probably benign	0.00
R8422:Rabggta	UTSW	14	55,955,915 (GRCm39)	missense	probably benign	0.21
R9008:Rabggta	UTSW	14	55,955,913 (GRCm39)	missense	probably damaging	1.00
R9018:Rabggta	UTSW	14	55,957,880 (GRCm39)	missense	probably damaging	1.00
R9050:Rabggta	UTSW	14	55,959,056 (GRCm39)	missense	probably benign	0.18
R9232:Rabggta	UTSW	14	55,956,745 (GRCm39)	missense	probably benign	0.01
R9301:Rabggta	UTSW	14	55,957,083 (GRCm39)	missense	probably benign
R9664:Rabggta	UTSW	14	55,956,375 (GRCm39)	nonsense	probably null
R9782:Rabggta	UTSW	14	55,955,944 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CCAACTTGCTTTGAGGGTACTG -3'
(R):5'- TGTTCAGGTGACAAGAAACCC -3'

Sequencing Primer
(F):5'- ATGATGGTCAGCAGGCACC -3'
(R):5'- CCCATGGACAAACAGAGGGTC -3'

Posted On

2020-01-23