Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03345:Rgs8'

417419

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 #

IGL03345

Quality Score

Status

Chromosome

Chromosomal Location

153528612-153573415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153568556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 149 (K149R)

Ref Sequence

ENSEMBL: ENSMUSP00000107443 (fasta)

Gene Model

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

AlphaFold

Q8BXT1

Predicted Effect

probably benign
Transcript: ENSMUST00000041776
AA Change: K149R

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671
AA Change: K149R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111810
AA Change: K149R

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671
AA Change: K149R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111812
AA Change: K149R

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671
AA Change: K149R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111814
AA Change: K147R

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671
AA Change: K147R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111815
AA Change: K147R

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671
AA Change: K147R

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152114

SMART Domains

Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,250,163 (GRCm39)	W987R	probably damaging	Het
Adcy5	T	C	16: 35,069,184 (GRCm39)	V384A	probably benign	Het
Akap12	T	C	10: 4,306,697 (GRCm39)	V1169A	probably benign	Het
Atp8a2	T	C	14: 60,011,460 (GRCm39)	T950A	probably benign	Het
Avil	T	C	10: 126,844,826 (GRCm39)		probably benign	Het
Bccip	A	G	7: 133,311,220 (GRCm39)	D45G	probably benign	Het
Bcl9	A	G	3: 97,116,508 (GRCm39)	S729P	probably benign	Het
C3	T	A	17: 57,526,585 (GRCm39)	I799F	probably damaging	Het
Cstf2	C	T	X: 132,961,794 (GRCm39)	R80C	probably damaging	Het
Degs1l	A	T	1: 180,882,937 (GRCm39)	H233L	probably benign	Het
Dock7	A	G	4: 98,873,056 (GRCm39)	F1130S	possibly damaging	Het
Elapor1	A	G	3: 108,399,332 (GRCm39)	V86A	possibly damaging	Het
Fat2	C	T	11: 55,173,187 (GRCm39)	D2509N	probably damaging	Het
Fut10	T	C	8: 31,750,069 (GRCm39)	S452P	probably damaging	Het
Gabrb1	T	A	5: 72,293,908 (GRCm39)	M394K	possibly damaging	Het
Gkn3	T	A	6: 87,365,798 (GRCm39)	E7V	probably null	Het
Gpld1	G	A	13: 25,171,007 (GRCm39)	G803R	probably damaging	Het
Hipk2	A	G	6: 38,724,937 (GRCm39)		probably benign	Het
Kcnu1	A	T	8: 26,371,321 (GRCm39)		probably benign	Het
Kidins220	A	T	12: 25,053,044 (GRCm39)	S445C	probably damaging	Het
Ltbp1	A	G	17: 75,373,154 (GRCm39)	K266E	probably damaging	Het
Myh4	A	T	11: 67,146,304 (GRCm39)	D1454V	probably damaging	Het
Nrf1	A	C	6: 30,089,947 (GRCm39)	T9P	probably damaging	Het
Nt5dc1	T	C	10: 34,200,458 (GRCm39)	E187G	probably benign	Het
Obscn	T	A	11: 58,886,308 (GRCm39)		probably benign	Het
Pkd2l2	T	C	18: 34,558,142 (GRCm39)	Y274H	probably damaging	Het
Rinl	A	G	7: 28,496,222 (GRCm39)	E401G	possibly damaging	Het
Rsbn1	A	G	3: 103,822,466 (GRCm39)	R234G	possibly damaging	Het
Slc6a3	A	G	13: 73,719,633 (GRCm39)	D554G	probably benign	Het
Slc7a2	A	G	8: 41,369,530 (GRCm39)	S646G	probably benign	Het
Syt5	A	G	7: 4,545,206 (GRCm39)	V231A	probably benign	Het
Timeless	T	G	10: 128,083,455 (GRCm39)	S695A	probably benign	Het
Tmem131l	G	A	3: 83,868,896 (GRCm39)	P160S	probably damaging	Het
Tspear	C	A	10: 77,710,716 (GRCm39)		probably null	Het
Ubn1	T	A	16: 4,899,828 (GRCm39)	H1113Q	probably damaging	Het
Vmn2r49	T	G	7: 9,718,621 (GRCm39)	K481T	probably damaging	Het
Xdh	T	C	17: 74,213,027 (GRCm39)	N872S	probably damaging	Het

Other mutations in Rgs8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02100:Rgs8	APN	1	153,568,469 (GRCm39)	critical splice acceptor site	probably null
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
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

2016-08-02