Mutagenetix > Incidental Mutations

Incidental Mutation 'R0334:Rabggta'

26159

Institutional Source

Beutler Lab

Gene Symbol

Rabggta

Ensembl Gene

ENSMUSG00000040472

Gene Name

Rab geranylgeranyl transferase, a subunit

Synonyms

MMRRC Submission

038543-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55715416-55722263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55720811 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 131 (L131Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154725 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062861

SMART Domains

Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472

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 damaging
Transcript: ENSMUST00000163889
AA Change: L131Q

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

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: L131Q

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 damaging
Transcript: ENSMUST00000169237
AA Change: L131Q

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

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: L131Q

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

noncoding transcript
Transcript: ENSMUST00000226209

Predicted Effect

probably damaging
Transcript: ENSMUST00000227061
AA Change: L131Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228899

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,617,129		probably benign	Het
Aggf1	T	C	13: 95,371,597	N87S	probably benign	Het
Ap2b1	T	C	11: 83,367,874		probably benign	Het
Arfgef3	A	G	10: 18,592,281	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,583,926	Q243*	probably null	Het
Atp8a2	A	T	14: 59,691,512	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,114,760		probably null	Het
Brinp2	G	T	1: 158,295,585	T37K	probably benign	Het
Bsph1	T	A	7: 13,450,939	L9*	probably null	Het
C6	T	G	15: 4,755,367	N238K	probably benign	Het
Cbs	T	C	17: 31,619,156	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,969,370	F191S	possibly damaging	Het
Cpz	A	G	5: 35,503,681	V530A	probably damaging	Het
Ctsc	G	T	7: 88,278,342	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,103,796	Y53S	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb4	T	C	8: 19,201,204	I29T	probably benign	Het
Disc1	A	T	8: 125,261,097		probably null	Het
Dnah2	A	G	11: 69,436,836	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,433,054	I3518N	possibly damaging	Het
Dnah8	A	T	17: 30,871,351	H4609L	probably damaging	Het
Evi5	C	A	5: 107,820,535	C182F	probably damaging	Het
Fam149b	G	A	14: 20,363,424	R237H	probably damaging	Het
Fut8	T	A	12: 77,393,762	D174E	possibly damaging	Het
Ghr	T	C	15: 3,341,098		probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm12794	T	C	4: 101,941,584	F251L	probably benign	Het
Gm8882	T	A	6: 132,364,058	Q17L	unknown	Het
Gm9573	A	G	17: 35,622,722		probably benign	Het
Gpr176	T	C	2: 118,279,708	S357G	probably benign	Het
Grwd1	A	T	7: 45,827,177		probably null	Het
H2-T24	A	G	17: 36,014,880	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,956,038		probably benign	Het
Herc3	A	G	6: 58,918,817	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 193,242,168		probably benign	Het
Igsf23	T	C	7: 19,941,753	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,617,906	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,198,359		probably null	Het
Kdm5b	A	G	1: 134,604,522	I479M	probably damaging	Het
Kidins220	A	G	12: 25,008,069	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,552,329	I216S	probably damaging	Het
Myo1g	A	G	11: 6,511,084		probably benign	Het
Nrxn3	T	C	12: 89,813,642		probably null	Het
Olfr706	A	G	7: 106,886,415	V134A	probably benign	Het
Olfr921	A	T	9: 38,775,239		probably null	Het
Olfr943	A	G	9: 39,184,684	I169V	probably benign	Het
Pdia5	A	T	16: 35,464,390	S66T	possibly damaging	Het
Plec	T	C	15: 76,178,006	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,282,180	A654S	probably benign	Het
Pnpla2	G	A	7: 141,459,520		probably null	Het
Prkdc	A	G	16: 15,736,799	D2128G	probably benign	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Rnf139	A	G	15: 58,899,473	Y449C	probably damaging	Het
Sbno1	A	G	5: 124,386,868	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,557,301	N321I	probably damaging	Het
Slit3	T	A	11: 35,579,101	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,680,824	S627P	probably benign	Het
Stat2	T	A	10: 128,277,867	F172I	probably damaging	Het
Tchh	C	A	3: 93,445,616	R788S	unknown	Het
Tnks	T	A	8: 34,853,259	K753*	probably null	Het
Trank1	T	A	9: 111,365,353	V815D	probably benign	Het
Trank1	T	A	9: 111,392,940	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,343	S271P	probably damaging	Het
Trpm5	T	C	7: 143,086,876	Q213R	probably benign	Het
Ulk3	C	T	9: 57,594,227		probably benign	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,256,318	S181P	probably damaging	Het
Yipf3	T	C	17: 46,248,312	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,986,556	H1094Q	probably damaging	Het

Other mutations in Rabggta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Rabggta	APN	14	55718671	missense	probably damaging	0.98
IGL02263:Rabggta	APN	14	55718961	splice site	probably benign
IGL02293:Rabggta	APN	14	55721696	missense	probably benign	0.27
IGL02377:Rabggta	APN	14	55718495	missense	possibly damaging	0.66
IGL02901:Rabggta	APN	14	55721681	missense	probably benign	0.41
IGL03004:Rabggta	APN	14	55719230	splice site	probably benign
R1914:Rabggta	UTSW	14	55721189	missense	possibly damaging	0.73
R2926:Rabggta	UTSW	14	55719290	missense	probably benign	0.00
R4469:Rabggta	UTSW	14	55716487	missense	probably benign	0.00
R5584:Rabggta	UTSW	14	55720832	missense	probably benign
R6721:Rabggta	UTSW	14	55717203	missense	probably damaging	1.00
R6960:Rabggta	UTSW	14	55721842	critical splice donor site	probably null
R7169:Rabggta	UTSW	14	55720901	missense	probably damaging	0.99
R7447:Rabggta	UTSW	14	55719316	missense	probably null	0.11
R7805:Rabggta	UTSW	14	55719512	missense	probably benign	0.00
R8038:Rabggta	UTSW	14	55718930	missense	probably benign	0.07
R8422:Rabggta	UTSW	14	55718458	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGCCCTAGCAATTCCTCC -3'
(R):5'- GAGAAGTGCTCCAGCAGCTAGAAAC -3'

Sequencing Primer
(F):5'- AGACTGCTCCTATACATACATCTGG -3'
(R):5'- ATGTTGGAAGGCTCTAACCC -3'

Posted On

2013-04-16