Mutagenetix > Incidental Mutation

Incidental Mutation 'R7169:Rabggta'

558144

Institutional Source

Beutler Lab

Gene Symbol

Rabggta

Ensembl Gene

ENSMUSG00000040472

Gene Name

Rab geranylgeranyl transferase, a subunit

Synonyms

MMRRC Submission

045229-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7169 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

55953321-55959720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 55958358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 101 (R101P)

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

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: R101P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: R101P

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: R101P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: R101P

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 damaging
Transcript: ENSMUST00000227061
AA Change: R101P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,040,707 (GRCm39)	V870A	probably damaging	Het
Ahi1	T	G	10: 20,930,918 (GRCm39)	D919E	probably damaging	Het
Angptl6	T	A	9: 20,786,475 (GRCm39)	R390S	probably damaging	Het
Arhgef11	A	G	3: 87,634,755 (GRCm39)	I873V	possibly damaging	Het
BC024063	T	C	10: 81,946,293 (GRCm39)	Y638H	possibly damaging	Het
Brsk1	T	C	7: 4,718,403 (GRCm39)	S751P	probably benign	Het
Calhm5	T	A	10: 33,968,160 (GRCm39)	T298S	probably damaging	Het
Cdh20	G	A	1: 104,875,078 (GRCm39)	A287T	possibly damaging	Het
Clic3	G	A	2: 25,348,731 (GRCm39)	R237H	probably benign	Het
Cog6	G	T	3: 52,897,387 (GRCm39)	P562H	possibly damaging	Het
Csnk2a2	A	G	8: 96,215,006 (GRCm39)	Y24H		Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Cyria	A	G	12: 12,409,233 (GRCm39)	D71G	possibly damaging	Het
Dennd6b	A	T	15: 89,073,055 (GRCm39)	F161I	possibly damaging	Het
Dnah14	G	T	1: 181,529,930 (GRCm39)	V2235L	probably benign	Het
Dnah6	A	T	6: 73,015,729 (GRCm39)	V3636D	probably damaging	Het
Dpm1	A	T	2: 168,053,343 (GRCm39)	Y207*	probably null	Het
Eml3	A	G	19: 8,910,828 (GRCm39)	T227A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	C	A	15: 75,990,114 (GRCm39)	A2256S	probably benign	Het
Etnppl	A	T	3: 130,414,345 (GRCm39)	N80I	probably damaging	Het
Eya4	A	T	10: 23,031,845 (GRCm39)	N236K	probably benign	Het
Gm12886	T	G	4: 121,273,948 (GRCm39)	Q89H	probably damaging	Het
Gsdme	T	C	6: 50,204,358 (GRCm39)	T200A	probably benign	Het
Hipk1	C	T	3: 103,651,533 (GRCm39)	A1122T	probably benign	Het
Icos	A	G	1: 61,034,705 (GRCm39)	D176G	probably damaging	Het
Igkv5-43	T	A	6: 69,800,519 (GRCm39)	Y56F	probably damaging	Het
Il1r1	T	C	1: 40,332,519 (GRCm39)		probably null	Het
Ildr2	G	A	1: 166,135,503 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,306,722 (GRCm39)	H305Q	probably damaging	Het
Insrr	A	G	3: 87,715,901 (GRCm39)	H532R	probably benign	Het
Lmbr1l	CACTACATACTACATACTACATACTACATACTACATACTACATAC	CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC	15: 98,807,039 (GRCm39)		probably null	Het
Lmbr1l	ACTACAT	ACTACATGCTACAT	15: 98,807,075 (GRCm39)		probably benign	Het
Lratd1	A	G	12: 14,200,619 (GRCm39)	F36S	probably damaging	Het
Lrrc25	T	G	8: 71,070,437 (GRCm39)	S73A	probably benign	Het
Lrrn1	T	C	6: 107,544,565 (GRCm39)	L121P	probably damaging	Het
Ly6c1	C	A	15: 74,916,495 (GRCm39)	V116L	probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Mroh7	T	A	4: 106,548,836 (GRCm39)	D1009V	probably damaging	Het
Mybpc3	T	C	2: 90,948,524 (GRCm39)	V4A	possibly damaging	Het
Mycbp2	A	G	14: 103,497,636 (GRCm39)	S979P	possibly damaging	Het
Ntn5	C	T	7: 45,336,198 (GRCm39)	R210*	probably null	Het
Nuak1	T	C	10: 84,210,609 (GRCm39)	D493G	probably damaging	Het
Oprk1	T	A	1: 5,659,304 (GRCm39)	D11E	probably benign	Het
Or13a1	G	T	6: 116,471,025 (GRCm39)	A152S	probably benign	Het
Or4f14	A	G	2: 111,742,939 (GRCm39)	M112T	possibly damaging	Het
Or4k37	T	A	2: 111,158,943 (GRCm39)	Y60N	probably damaging	Het
Or56a41	T	C	7: 104,740,397 (GRCm39)	I150V	possibly damaging	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pkm	A	G	9: 59,578,908 (GRCm39)	D296G	possibly damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pop5	T	A	5: 115,378,287 (GRCm39)	V77E	possibly damaging	Het
Ppp1r10	T	C	17: 36,240,365 (GRCm39)	S552P	probably damaging	Het
Rorc	A	T	3: 94,296,487 (GRCm39)	E243V	probably benign	Het
Setmar	C	A	6: 108,042,049 (GRCm39)	A3E	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc12a7	G	A	13: 73,932,679 (GRCm39)	V56M	probably benign	Het
Snph	T	A	2: 151,436,307 (GRCm39)	N207I	probably damaging	Het
Snx14	A	G	9: 88,280,362 (GRCm39)	V531A	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tlr3	A	T	8: 45,850,056 (GRCm39)	M871K	probably damaging	Het
Tnfrsf11a	A	T	1: 105,772,421 (GRCm39)	R569S	possibly damaging	Het
Trim66	A	G	7: 109,054,328 (GRCm39)	V1294A	probably benign	Het
Vldlr	G	A	19: 27,221,728 (GRCm39)	V698I	probably benign	Het
Vmn2r73	G	A	7: 85,507,663 (GRCm39)	Q550*	probably null	Het
Zdhhc5	A	T	2: 84,532,675 (GRCm39)		probably null	Het
Zfhx3	T	A	8: 109,678,030 (GRCm39)	Y3027N	possibly damaging	Het
Zfp663	C	T	2: 165,194,359 (GRCm39)	S620N	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
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
R8038:Rabggta	UTSW	14	55,956,387 (GRCm39)	missense	probably benign	0.07
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'- CTGGTGCTAGATCCTGTGTATCC -3'
(R):5'- AGTAGTTCAGGTCTCTGCCC -3'

Sequencing Primer
(F):5'- TCTGAGGACCCAGTACCAGGATG -3'
(R):5'- CCTGGGTGCAGAACTGGAG -3'

Posted On

2019-06-26