Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02100:Rgs8'

279736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs8

Ensembl Gene

ENSMUSG00000042671

Gene Name

regulator of G-protein signaling 8

Synonyms

6530413N01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL02100

Quality Score

Status

Chromosome

Chromosomal Location

153528612-153573415 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 153568469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041776] [ENSMUST00000041776] [ENSMUST00000111810] [ENSMUST00000111810] [ENSMUST00000111812] [ENSMUST00000111812] [ENSMUST00000111814] [ENSMUST00000111814] [ENSMUST00000111815] [ENSMUST00000111815] [ENSMUST00000124500] [ENSMUST00000147482] [ENSMUST00000152114] [ENSMUST00000152114] [ENSMUST00000147700]

AlphaFold

Q8BXT1

Predicted Effect

probably null
Transcript: ENSMUST00000041776

SMART Domains

Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000041776

SMART Domains

Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111810

SMART Domains

Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111810

SMART Domains

Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111812

SMART Domains

Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111812

SMART Domains

Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111814

SMART Domains

Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	54	170	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111814

SMART Domains

Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	54	170	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111815

SMART Domains

Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	54	170	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111815

SMART Domains

Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	54	170	1.83e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124500

SMART Domains

Protein: ENSMUSP00000122518
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
Pfam:RGS	56	99	2.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147482

SMART Domains

Protein: ENSMUSP00000118365
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
Pfam:RGS	54	115	6.5e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000152114

SMART Domains

Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	137	1.52e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152114

SMART Domains

Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
RGS	56	137	1.52e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187154

Predicted Effect

probably benign
Transcript: ENSMUST00000147700

SMART Domains

Protein: ENSMUSP00000123565
Gene: ENSMUSG00000042671

Domain	Start	End	E-Value	Type
Pfam:RGS	56	115	1.1e-18	PFAM

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 is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and Purkinje cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,029 (GRCm39)	Q347L	probably null	Het
Acvr2a	T	C	2: 48,788,630 (GRCm39)		probably benign	Het
Ankrd28	T	C	14: 31,449,582 (GRCm39)		probably benign	Het
Atp6v1b1	A	G	6: 83,735,426 (GRCm39)	Y498C	probably damaging	Het
Cdh3	G	A	8: 107,270,322 (GRCm39)	V400I	probably benign	Het
Chrnb1	G	T	11: 69,684,281 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,524,177 (GRCm39)		probably benign	Het
Cyp2j7	A	G	4: 96,124,793 (GRCm39)	L35P	probably damaging	Het
Dennd2c	G	A	3: 103,060,991 (GRCm39)	S561N	probably damaging	Het
Dennd4a	A	T	9: 64,816,988 (GRCm39)		probably benign	Het
Dnai4	A	G	4: 102,907,346 (GRCm39)	C647R	probably damaging	Het
Dynll1	A	C	5: 115,436,852 (GRCm39)	V58G	probably damaging	Het
Eif3a	A	T	19: 60,755,442 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,239,052 (GRCm39)	S47P	probably benign	Het
Fam76b	A	G	9: 13,755,416 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,269,941 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,606,373 (GRCm39)	F140L	probably benign	Het
Gm28043	T	C	17: 29,910,400 (GRCm39)		probably null	Het
Gm5117	T	A	8: 32,227,412 (GRCm39)		noncoding transcript	Het
Gstm6	G	T	3: 107,849,653 (GRCm39)	N85K	probably benign	Het
Hip1r	C	T	5: 124,137,006 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,839,706 (GRCm39)	I671T	probably benign	Het
Insrr	T	G	3: 87,718,927 (GRCm39)	F961C	probably damaging	Het
Kbtbd8	T	C	6: 95,099,663 (GRCm39)	Y314H	probably damaging	Het
Kif26b	C	A	1: 178,743,512 (GRCm39)	L756I	probably damaging	Het
Lcor	G	A	19: 41,547,193 (GRCm39)	R259Q	possibly damaging	Het
Mad1l1	T	A	5: 140,129,689 (GRCm39)	S449C	probably damaging	Het
Map1a	T	G	2: 121,133,327 (GRCm39)	L1381R	probably damaging	Het
Mdn1	G	T	4: 32,715,708 (GRCm39)	V1992L	possibly damaging	Het
Pigp	G	A	16: 94,165,626 (GRCm39)	Q99*	probably null	Het
Pip4p2	T	C	4: 14,893,536 (GRCm39)	I133T	probably benign	Het
Rnf170	T	A	8: 26,614,012 (GRCm39)	L36H	probably damaging	Het
Rpap1	T	C	2: 119,599,807 (GRCm39)	S1004G	probably benign	Het
Rpl10a-ps2	T	C	13: 8,990,779 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Scn7a	T	G	2: 66,505,843 (GRCm39)	*1682S	probably null	Het
Sema3d	A	G	5: 12,634,958 (GRCm39)	T675A	probably benign	Het
Slc1a2	T	C	2: 102,586,434 (GRCm39)	F346S	probably damaging	Het
St14	G	T	9: 31,011,426 (GRCm39)		probably benign	Het
Stard5	T	C	7: 83,289,653 (GRCm39)	V173A	possibly damaging	Het
Taf1b	A	G	12: 24,594,394 (GRCm39)	Y309C	possibly damaging	Het
Tet1	T	C	10: 62,648,507 (GRCm39)	N1975S	possibly damaging	Het
Them5	T	A	3: 94,251,782 (GRCm39)	I131N	probably damaging	Het
Tnc	A	C	4: 63,918,398 (GRCm39)	V1171G	possibly damaging	Het
Ttc12	C	A	9: 49,351,482 (GRCm39)	G672W	probably damaging	Het
Usp8	T	C	2: 126,579,774 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,624,807 (GRCm39)	N92S	probably benign	Het
Was	A	T	X: 7,956,554 (GRCm39)	F38L	possibly damaging	Het

Other mutations in Rgs8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02163:Rgs8	APN	1	153,547,511 (GRCm39)	missense	possibly damaging	0.71
IGL02826:Rgs8	APN	1	153,546,545 (GRCm39)	missense	probably damaging	1.00
IGL03345:Rgs8	APN	1	153,568,556 (GRCm39)	missense	probably benign	0.34
R0561:Rgs8	UTSW	1	153,541,668 (GRCm39)	splice site	probably null
R0801:Rgs8	UTSW	1	153,546,557 (GRCm39)	missense	probably damaging	1.00
R3618:Rgs8	UTSW	1	153,566,742 (GRCm39)	missense	probably null	0.35
R4058:Rgs8	UTSW	1	153,566,742 (GRCm39)	missense	probably null	0.35
R4059:Rgs8	UTSW	1	153,566,742 (GRCm39)	missense	probably null	0.35
R4877:Rgs8	UTSW	1	153,568,633 (GRCm39)	unclassified	probably benign
R5070:Rgs8	UTSW	1	153,541,650 (GRCm39)	missense	probably damaging	0.97
R5841:Rgs8	UTSW	1	153,568,574 (GRCm39)	missense	probably damaging	1.00
R6028:Rgs8	UTSW	1	153,566,734 (GRCm39)	missense	probably damaging	1.00
R6413:Rgs8	UTSW	1	153,568,619 (GRCm39)	missense	probably damaging	1.00
R7682:Rgs8	UTSW	1	153,566,668 (GRCm39)	missense	probably damaging	1.00
R8746:Rgs8	UTSW	1	153,547,537 (GRCm39)	missense	probably damaging	1.00
R8951:Rgs8	UTSW	1	153,546,567 (GRCm39)	missense	probably damaging	0.98
X0028:Rgs8	UTSW	1	153,546,592 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16