Mutagenetix > Incidental Mutation

Incidental Mutation 'R9782:Rabggta'

734134

Institutional Source

Beutler Lab

Gene Symbol

Rabggta

Ensembl Gene

ENSMUSG00000040472

Gene Name

Rab geranylgeranyl transferase, a subunit

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55953321-55959720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55955944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 438 (M438L)

Ref Sequence

ENSEMBL: ENSMUSP00000128668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000168729] [ENSMUST00000169237] [ENSMUST00000178034] [ENSMUST00000227061] [ENSMUST00000227958] [ENSMUST00000228123]

AlphaFold

Q9JHK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062861
AA Change: M168L

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: M168L

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

possibly damaging
Transcript: ENSMUST00000163889
AA Change: M438L

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: M438L

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: ENSMUST00000168729

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218

Domain	Start	End	E-Value	Type
low complexity region	13	45	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
low complexity region	65	95	N/A	INTRINSIC
Pfam:Transglut_N	109	228	5.5e-35	PFAM
TGc	368	461	1.7e-43	SMART
low complexity region	550	561	N/A	INTRINSIC
Pfam:Transglut_C	578	682	1.5e-22	PFAM
Pfam:Transglut_C	690	787	1e-20	PFAM
low complexity region	788	804	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169237
AA Change: M438L

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: M438L

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: ENSMUST00000178034

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218

Domain	Start	End	E-Value	Type
low complexity region	13	45	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
low complexity region	65	95	N/A	INTRINSIC
Pfam:Transglut_N	110	226	1.2e-32	PFAM
TGc	368	461	1.7e-43	SMART
low complexity region	550	561	N/A	INTRINSIC
Pfam:Transglut_C	578	682	3.6e-24	PFAM
Pfam:Transglut_C	690	787	1.3e-20	PFAM
low complexity region	788	804	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227061
AA Change: M438L

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000227958

Predicted Effect

probably benign
Transcript: ENSMUST00000228123

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,053,796 (GRCm39)	M1K	probably null	Het
Atoh8	A	T	6: 72,200,848 (GRCm39)	L281M	possibly damaging	Het
Bckdha	A	G	7: 25,340,880 (GRCm39)		probably null	Het
Chil6	A	T	3: 106,296,121 (GRCm39)	Y371*	probably null	Het
Cilk1	A	T	9: 78,048,520 (GRCm39)	Q108L	probably damaging	Het
Fbxw18	G	T	9: 109,522,376 (GRCm39)	H164Q	probably benign	Het
Gucd1	T	G	10: 75,345,650 (GRCm39)	D135A	probably benign	Het
Hacd1	A	G	2: 14,040,751 (GRCm39)	I168T	possibly damaging	Het
Hfm1	T	C	5: 107,021,896 (GRCm39)	E1013G	probably benign	Het
Hsf4	G	A	8: 105,999,217 (GRCm39)		probably null	Het
Ift140	G	T	17: 25,264,151 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Imp4	T	A	1: 34,482,901 (GRCm39)	L164Q	probably damaging	Het
Jazf1	C	T	6: 52,747,311 (GRCm39)	V204I	probably benign	Het
Kmt2d	T	A	15: 98,764,597 (GRCm39)	D2V	probably damaging	Het
Knl1	T	C	2: 118,899,910 (GRCm39)	V537A	probably benign	Het
Mep1b	A	T	18: 21,208,720 (GRCm39)	D32V	possibly damaging	Het
Mki67	A	G	7: 135,306,066 (GRCm39)		probably null	Het
Morn3	C	T	5: 123,175,822 (GRCm39)	V189M	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Mtmr2	T	C	9: 13,713,293 (GRCm39)	M490T	probably benign	Het
Muc16	T	C	9: 18,548,066 (GRCm39)	T6076A	possibly damaging	Het
Myo1c	A	G	11: 75,549,273 (GRCm39)	E113G	probably damaging	Het
Nat8f4	A	T	6: 85,878,052 (GRCm39)	V157D	probably damaging	Het
Nectin4	T	C	1: 171,214,192 (GRCm39)	V449A	probably damaging	Het
Ogdhl	C	T	14: 32,061,909 (GRCm39)	T528M	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	G	A	2: 88,356,835 (GRCm39)	V303M	probably benign	Het
Or52l1	A	G	7: 104,830,067 (GRCm39)	V166A	probably damaging	Het
Pcdhb12	AT	A	18: 37,570,393 (GRCm39)		probably null	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pkn2	A	C	3: 142,516,237 (GRCm39)	V562G	possibly damaging	Het
Plxna1	C	A	6: 89,333,817 (GRCm39)	A271S	probably benign	Het
Ppp1r3a	C	T	6: 14,718,766 (GRCm39)	S716N	probably damaging	Het
Prss12	G	A	3: 123,271,762 (GRCm39)	G256S	probably benign	Het
Psg28	A	T	7: 18,164,331 (GRCm39)	M127K	probably benign	Het
Psmf1	T	C	2: 151,577,533 (GRCm39)	D48G	possibly damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rbck1	T	C	2: 152,165,113 (GRCm39)	E297G	probably damaging	Het
Rras	A	T	7: 44,669,945 (GRCm39)	I126F	probably damaging	Het
Slc22a28	T	C	19: 8,041,813 (GRCm39)	R465G	probably null	Het
Slc28a2b	T	A	2: 122,352,338 (GRCm39)	I365N	probably damaging	Het
Snx19	A	G	9: 30,340,172 (GRCm39)	T437A	probably benign	Het
Son	A	T	16: 91,444,838 (GRCm39)	S15C	probably damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Sptbn4	G	T	7: 27,107,993 (GRCm39)	Q810K	probably benign	Het
Tmtc2	T	C	10: 105,026,062 (GRCm39)	Y802C	probably damaging	Het
Trrap	T	A	5: 144,758,716 (GRCm39)	M2181K	probably damaging	Het
Ttc23l	A	G	15: 10,530,767 (GRCm39)	S282P	probably damaging	Het
Zbtb7a	G	A	10: 80,979,910 (GRCm39)	D35N	probably damaging	Het
Zc3h3	C	A	15: 75,681,489 (GRCm39)	V531L	probably damaging	Het
Zfhx4	A	G	3: 5,466,514 (GRCm39)	D2249G	probably benign	Het
Zfp87	T	C	13: 74,520,932 (GRCm39)	K49E	probably benign	Het
Zfp942	T	C	17: 22,147,463 (GRCm39)	T389A	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
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

Predicted Primers

PCR Primer
(F):5'- ACACATTCCTAGTCCAGCTTTG -3'
(R):5'- TACCCTCAAAGCAAGTTGGGC -3'

Sequencing Primer
(F):5'- GCTTTGATGGGTCAGGACTTAAAACC -3'
(R):5'- CTCAAAGCAAGTTGGGCCTTGG -3'

Posted On

2022-11-14