Mutagenetix > Incidental Mutation

Incidental Mutation 'R9050:Rabggta'

688314

Institutional Source

Beutler Lab

Gene Symbol

Rabggta

Ensembl Gene

ENSMUSG00000040472

Gene Name

Rab geranylgeranyl transferase, a subunit

Synonyms

MMRRC Submission

068876-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55953321-55959720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55959056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 37 (Q37L)

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 benign
Transcript: ENSMUST00000163889
AA Change: Q37L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: Q37L

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: Q37L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: Q37L

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: Q37L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,208,605 (GRCm39)	Y332H	probably benign	Het
Apoc3	A	G	9: 46,144,592 (GRCm39)	F77L	probably benign	Het
Atp5f1c	A	T	2: 10,069,049 (GRCm39)	D99E	probably damaging	Het
Atxn3	A	T	12: 101,924,387 (GRCm39)		probably benign	Het
Calcoco1	A	G	15: 102,618,400 (GRCm39)	V463A	probably damaging	Het
Cby3	A	G	11: 50,248,617 (GRCm39)	T20A	possibly damaging	Het
Cdhr2	A	G	13: 54,883,133 (GRCm39)	D1256G	probably benign	Het
Cep350	A	T	1: 155,738,687 (GRCm39)	D2385E	possibly damaging	Het
Clec9a	G	C	6: 129,396,561 (GRCm39)	A170P	possibly damaging	Het
Col5a3	C	T	9: 20,697,691 (GRCm39)	G871S	probably damaging	Het
Fmo4	A	G	1: 162,635,099 (GRCm39)	S159P	probably benign	Het
Gabbr2	A	G	4: 46,798,659 (GRCm39)	F272L	probably benign	Het
Glp1r	G	A	17: 31,137,892 (GRCm39)	G108S	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Hps5	T	C	7: 46,422,607 (GRCm39)	D574G	probably benign	Het
Il7	A	G	3: 7,669,170 (GRCm39)	V22A	possibly damaging	Het
Kmt5c	A	G	7: 4,745,281 (GRCm39)	T91A	probably benign	Het
Mrpl39	A	C	16: 84,531,844 (GRCm39)		probably benign	Het
Mtr	T	C	13: 12,231,748 (GRCm39)	D652G	probably null	Het
Neb	C	T	2: 52,079,901 (GRCm39)	V5768M	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nicol1	G	C	5: 34,140,874 (GRCm39)	A29P	unknown	Het
Nmrk1	T	A	19: 18,618,539 (GRCm39)	M74K	probably benign	Het
Obox8	A	G	7: 14,066,870 (GRCm39)	L58P	unknown	Het
Oga	T	C	19: 45,756,354 (GRCm39)	T430A	probably damaging	Het
Or1o4	A	G	17: 37,590,820 (GRCm39)	Y164H	probably damaging	Het
Or2b2	A	G	13: 21,887,150 (GRCm39)		probably benign	Het
Or2y1e	T	C	11: 49,218,930 (GRCm39)	S231P	possibly damaging	Het
Or5p62	A	C	7: 107,771,087 (GRCm39)	L288W	probably damaging	Het
Pcdhb17	T	G	18: 37,620,286 (GRCm39)	V692G	probably damaging	Het
Pfas	A	G	11: 68,882,567 (GRCm39)	V829A	probably benign	Het
Pramel24	A	T	4: 143,453,329 (GRCm39)	T146S	probably benign	Het
Pth	A	G	7: 112,985,043 (GRCm39)	V110A	probably benign	Het
Rin3	A	G	12: 102,335,738 (GRCm39)	T550A	probably damaging	Het
Scn8a	G	A	15: 100,906,161 (GRCm39)	V785I	possibly damaging	Het
Sec24d	T	C	3: 123,144,374 (GRCm39)	V617A	probably benign	Het
Slc47a1	T	C	11: 61,235,160 (GRCm39)	I558V	probably benign	Het
Slc6a15	A	T	10: 103,252,516 (GRCm39)	M560L	possibly damaging	Het
Slfn9	G	A	11: 82,879,120 (GRCm39)	T3I	probably benign	Het
Spag9	A	G	11: 93,935,294 (GRCm39)	H35R	probably damaging	Het
Spats2	G	T	15: 99,110,010 (GRCm39)	R469L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Ssx2ip	C	T	3: 146,144,512 (GRCm39)	S592L	possibly damaging	Het
Ston1	A	G	17: 88,944,228 (GRCm39)	T545A	probably benign	Het
Suz12	C	T	11: 79,913,023 (GRCm39)	L379F	probably damaging	Het
Tbc1d24	C	A	17: 24,404,899 (GRCm39)	V82L	probably benign	Het
Tbc1d24	A	T	17: 24,404,898 (GRCm39)	V82E	possibly damaging	Het
Thada	A	G	17: 84,736,629 (GRCm39)	I884T	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Togaram2	T	C	17: 72,007,878 (GRCm39)	L401P	probably damaging	Het
Ttbk2	A	T	2: 120,637,319 (GRCm39)	N115K	probably benign	Het
Tubgcp4	G	A	2: 121,004,079 (GRCm39)	S40N	probably benign	Het
Wrn	T	C	8: 33,833,021 (GRCm39)	D157G	probably damaging	Het
Zer1	A	T	2: 30,001,294 (GRCm39)	F70Y	probably damaging	Het
Zfp791	T	C	8: 85,837,334 (GRCm39)	I177V	possibly damaging	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
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'- TTCCCCAGCTCTAGGTTAAAC -3'
(R):5'- ATGGTGAGAACCCTGAGCTC -3'

Sequencing Primer
(F):5'- GGTACTGTGCAAAACCTTACATGGC -3'
(R):5'- ATCCCACGTGGCTATCTCGG -3'

Posted On

2021-11-19