Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00918:Rragc'

27234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rragc

Ensembl Gene

ENSMUSG00000028646

Gene Name

Ras-related GTP binding C

Synonyms

YGR163W, TIB929, Gtr2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

IGL00918

Quality Score

Status

Chromosome

Chromosomal Location

123811239-123830790 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 123813636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030399] [ENSMUST00000155757] [ENSMUST00000181410]

AlphaFold

Q99K70

Predicted Effect

probably benign
Transcript: ENSMUST00000030399

SMART Domains

Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646

Domain	Start	End	E-Value	Type
Pfam:Arf	55	234	5.1e-7	PFAM
Pfam:SRPRB	58	154	9.8e-7	PFAM
Pfam:Gtr1_RagA	62	288	2.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155454

Predicted Effect

probably benign
Transcript: ENSMUST00000155757

SMART Domains

Protein: ENSMUSP00000115232
Gene: ENSMUSG00000028646

Domain	Start	End	E-Value	Type
Pfam:Arf	55	157	1.7e-6	PFAM
Pfam:SRPRB	58	156	6.3e-8	PFAM
Pfam:Gtr1_RagA	62	178	1.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181410

SMART Domains

Protein: ENSMUSP00000137693
Gene: ENSMUSG00000096969

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	105	123	N/A	INTRINSIC
low complexity region	164	172	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	G	A	7: 144,198,489 (GRCm39)		probably benign	Het
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cfap43	A	T	19: 47,885,100 (GRCm39)	L505H	probably damaging	Het
Irag2	A	G	6: 145,113,720 (GRCm39)	E296G	probably damaging	Het
Plekhg6	T	A	6: 125,349,514 (GRCm39)	E361V	probably null	Het
Pnp	T	A	14: 51,188,459 (GRCm39)	M233K	probably benign	Het
Ptpre	T	C	7: 135,260,782 (GRCm39)	S140P	probably damaging	Het
Rgs3	C	T	4: 62,619,304 (GRCm39)	T463I	probably damaging	Het
Taar6	C	A	10: 23,861,480 (GRCm39)	C22F	probably damaging	Het
Taok2	T	A	7: 126,471,583 (GRCm39)	Q532L	probably damaging	Het
Tas2r130	T	C	6: 131,607,234 (GRCm39)	N187S	probably damaging	Het

Other mutations in Rragc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Rragc	APN	4	123,823,761 (GRCm39)	missense	probably benign	0.12
IGL01843:Rragc	APN	4	123,814,852 (GRCm39)	missense	probably damaging	1.00
IGL02302:Rragc	APN	4	123,814,879 (GRCm39)	missense	possibly damaging	0.65
IGL02368:Rragc	APN	4	123,814,904 (GRCm39)	missense	probably benign	0.11
R0740:Rragc	UTSW	4	123,818,556 (GRCm39)	missense	probably damaging	1.00
R0988:Rragc	UTSW	4	123,818,575 (GRCm39)	splice site	probably null
R4620:Rragc	UTSW	4	123,818,622 (GRCm39)	missense	probably damaging	0.98
R5169:Rragc	UTSW	4	123,829,457 (GRCm39)	missense	probably damaging	0.96
R5727:Rragc	UTSW	4	123,813,828 (GRCm39)	missense	possibly damaging	0.66
R5729:Rragc	UTSW	4	123,818,645 (GRCm39)	missense	possibly damaging	0.60
R5959:Rragc	UTSW	4	123,817,767 (GRCm39)	missense	probably damaging	1.00
R6197:Rragc	UTSW	4	123,811,340 (GRCm39)	missense	possibly damaging	0.90
R7860:Rragc	UTSW	4	123,823,717 (GRCm39)	missense	probably damaging	0.99
R8008:Rragc	UTSW	4	123,829,340 (GRCm39)	missense	probably damaging	0.96
R9748:Rragc	UTSW	4	123,818,658 (GRCm39)	missense	possibly damaging	0.68

Posted On

2013-04-17