Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02163:Rgs8'

282546

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 #

IGL02163

Quality Score

Status

Chromosome

Chromosomal Location

153528612-153573415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153547511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 47 (T47K)

Ref Sequence

ENSEMBL: ENSMUSP00000122518 (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: T47K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671
AA Change: T47K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111810
AA Change: T47K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671
AA Change: T47K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111812
AA Change: T47K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671
AA Change: T47K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111814
AA Change: T45K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671
AA Change: T45K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111815
AA Change: T45K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671
AA Change: T45K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124500
AA Change: T47K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122518
Gene: ENSMUSG00000042671
AA Change: T47K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147482
AA Change: T45K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118365
Gene: ENSMUSG00000042671
AA Change: T45K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147700
AA Change: T47K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123565
Gene: ENSMUSG00000042671
AA Change: T47K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152114
AA Change: T47K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671
AA Change: T47K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147794

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,852 (GRCm39)		probably benign	Het
Armh4	A	G	14: 50,011,614 (GRCm39)	V31A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cap1	C	T	4: 122,756,209 (GRCm39)	V396I	probably benign	Het
Ccdc80	T	C	16: 44,916,477 (GRCm39)	V411A	probably benign	Het
Cyp2w1	T	A	5: 139,341,920 (GRCm39)	M111K	probably damaging	Het
Dop1b	T	C	16: 93,559,315 (GRCm39)	V687A	possibly damaging	Het
Fam184a	T	C	10: 53,523,230 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,595,859 (GRCm39)	F342S	possibly damaging	Het
Foxred1	A	T	9: 35,117,192 (GRCm39)	L313H	probably damaging	Het
Gm38392	G	A	3: 88,152,887 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,733,109 (GRCm39)		probably benign	Het
Lrpprc	A	T	17: 85,060,900 (GRCm39)	M591K	probably damaging	Het
Ncr1	A	T	7: 4,344,262 (GRCm39)	S217C	possibly damaging	Het
Or10al7	T	C	17: 38,365,641 (GRCm39)	H281R	probably benign	Het
Or1e1	T	A	11: 73,245,320 (GRCm39)	V247E	probably damaging	Het
Pds5b	T	C	5: 150,679,871 (GRCm39)	F526L	probably benign	Het
Plekhh2	A	T	17: 84,898,223 (GRCm39)	S955C	probably benign	Het
Prpf19	T	A	19: 10,879,800 (GRCm39)	S307R	probably benign	Het
Pwp2	G	A	10: 78,014,119 (GRCm39)	P456S	possibly damaging	Het
Samd9l	T	A	6: 3,374,246 (GRCm39)	N1005I	possibly damaging	Het
Tmc4	A	G	7: 3,669,824 (GRCm39)	L20P	probably damaging	Het
Ttc21a	C	T	9: 119,779,901 (GRCm39)	Q403*	probably null	Het
Zbtb43	T	C	2: 33,343,795 (GRCm39)	R477G	possibly 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
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