Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02670:Rgs11'

302883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs11

Ensembl Gene

ENSMUSG00000024186

Gene Name

regulator of G-protein signaling 11

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

IGL02670

Quality Score

Status

Chromosome

Chromosomal Location

26202951-26211324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26207631 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 279 (V279I)

Ref Sequence

ENSEMBL: ENSMUSP00000025020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025020] [ENSMUST00000114988] [ENSMUST00000122058]

Predicted Effect

probably benign
Transcript: ENSMUST00000025020
AA Change: V279I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: V279I

Domain	Start	End	E-Value	Type
DEP	34	109	7.78e-17	SMART
G_gamma	220	284	1.38e-19	SMART
GGL	223	284	1.1e-26	SMART
RGS	303	418	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114988

SMART Domains

Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122058
AA Change: V277I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: V277I

Domain	Start	End	E-Value	Type
DEP	32	107	7.78e-17	SMART
G_gamma	218	282	1.38e-19	SMART
GGL	221	282	1.1e-26	SMART
RGS	301	416	6.23e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176847

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal cone and rod b-wave electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,967,305	Q2193*	probably null	Het
Asb1	T	C	1: 91,546,918		probably benign	Het
Cnot6	G	A	11: 49,685,114	Q178*	probably null	Het
Col5a1	C	T	2: 27,974,715	A737V	unknown	Het
Cyp27b1	T	C	10: 127,050,358	S303P	probably benign	Het
Dnah5	T	C	15: 28,409,296	L3620P	probably damaging	Het
Dock7	A	T	4: 98,966,286		probably null	Het
Fam161b	T	C	12: 84,357,594	D104G	probably benign	Het
Fam8a1	A	G	13: 46,673,604	M284V	possibly damaging	Het
Fkbp3	T	A	12: 65,069,103	K65*	probably null	Het
Gatb	A	G	3: 85,613,551		probably null	Het
Gm572	A	T	4: 148,651,228	H38L	probably benign	Het
Gm6576	A	C	15: 27,025,512		noncoding transcript	Het
L2hgdh	G	A	12: 69,692,480	R406W	possibly damaging	Het
Lmo7	A	T	14: 101,880,980	T214S	probably damaging	Het
Map3k12	T	C	15: 102,503,546	H361R	probably benign	Het
Mios	T	C	6: 8,235,378		probably benign	Het
Mta1	T	C	12: 113,130,121	L315P	probably damaging	Het
Pask	A	C	1: 93,310,818	V1315G	probably damaging	Het
Pias4	A	T	10: 81,164,070	C50S	probably damaging	Het
Sgk1	T	A	10: 21,928,546	C92S	probably benign	Het
Slc2a13	C	T	15: 91,497,509	G259E	probably damaging	Het
Slc5a4b	A	G	10: 76,075,100	C301R	probably damaging	Het
Sstr4	G	T	2: 148,396,533	G355*	probably null	Het
Tnrc6a	T	A	7: 123,171,312	L775Q	possibly damaging	Het
Vmn1r218	A	G	13: 23,137,004	I94V	probably benign	Het
Xpa	A	G	4: 46,185,682	F99L	probably benign	Het

Other mutations in Rgs11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Rgs11	APN	17	26207397	missense	probably damaging	1.00
IGL01617:Rgs11	APN	17	26208250	missense	probably damaging	1.00
IGL02150:Rgs11	APN	17	26202994	missense	probably benign	0.05
IGL02610:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02612:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02617:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02669:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02674:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02706:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02707:Rgs11	APN	17	26207631	missense	probably benign	0.31
IGL02741:Rgs11	APN	17	26207631	missense	probably benign	0.31
R0147:Rgs11	UTSW	17	26207459	critical splice donor site	probably null
R0148:Rgs11	UTSW	17	26207459	critical splice donor site	probably null
R0508:Rgs11	UTSW	17	26207469	splice site	probably benign
R0744:Rgs11	UTSW	17	26203318	missense	probably damaging	1.00
R1479:Rgs11	UTSW	17	26208283	unclassified	probably null
R1599:Rgs11	UTSW	17	26208249	missense	probably damaging	1.00
R1779:Rgs11	UTSW	17	26210666	missense	probably damaging	1.00
R3692:Rgs11	UTSW	17	26204328	unclassified	probably benign
R3807:Rgs11	UTSW	17	26203500	missense	probably damaging	0.99
R3889:Rgs11	UTSW	17	26207587	missense	probably damaging	0.98
R4689:Rgs11	UTSW	17	26204547	critical splice donor site	probably null
R4832:Rgs11	UTSW	17	26207568	missense	probably benign	0.00
R5052:Rgs11	UTSW	17	26207973	intron	probably benign
R5330:Rgs11	UTSW	17	26202973	start codon destroyed	probably benign	0.01
R5331:Rgs11	UTSW	17	26202973	start codon destroyed	probably benign	0.01
R5683:Rgs11	UTSW	17	26205181	missense	probably benign	0.32
R5879:Rgs11	UTSW	17	26203463	unclassified	probably benign
R6156:Rgs11	UTSW	17	26210465	nonsense	probably null
R6671:Rgs11	UTSW	17	26208298	missense	probably damaging	1.00
R7432:Rgs11	UTSW	17	26207760	missense	probably damaging	0.99
R7609:Rgs11	UTSW	17	26207441	missense	probably damaging	1.00
R7795:Rgs11	UTSW	17	26207578	missense	possibly damaging	0.88
R7820:Rgs11	UTSW	17	26205195	splice site	probably null
R8025:Rgs11	UTSW	17	26204385	critical splice donor site	probably null
Z1088:Rgs11	UTSW	17	26205772	missense	probably benign	0.01

Posted On

2015-04-16