Incidental Mutation 'IGL02741:Rgs11'
ID305891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs11
Ensembl Gene ENSMUSG00000024186
Gene Nameregulator of G-protein signaling 11
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.256) question?
Stock #IGL02741
Quality Score
Status
Chromosome17
Chromosomal Location26202951-26211324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 26207631 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik T C 2: 18,027,196 Y37C unknown Het
Arhgap20 T A 9: 51,848,645 C599S probably benign Het
Bcl6b C A 11: 70,229,116 R15L probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dchs1 C T 7: 105,757,323 D2262N probably damaging Het
Dsg4 A G 18: 20,471,496 M1007V probably benign Het
Fgd6 A G 10: 94,123,290 K1032R possibly damaging Het
Fras1 T A 5: 96,691,371 M1583K probably benign Het
Gjc3 A T 5: 137,957,464 C186* probably null Het
Gm14496 A G 2: 181,991,343 R40G probably benign Het
Ibtk T C 9: 85,726,612 R416G probably damaging Het
Kcnc4 A G 3: 107,447,978 F385L probably damaging Het
Mapk8ip2 T C 15: 89,457,497 S304P probably damaging Het
Mbd6 A G 10: 127,287,394 probably null Het
Mroh2b T C 15: 4,905,632 F183S probably benign Het
Nrg1 T A 8: 31,822,288 T334S probably damaging Het
Pigw C T 11: 84,878,366 V46I probably benign Het
Pkdrej T C 15: 85,817,430 E1435G probably benign Het
Pkhd1 T C 1: 20,220,029 probably benign Het
Prkdc A T 16: 15,752,726 probably benign Het
Ptprd A T 4: 76,133,284 I247N probably damaging Het
Rfx1 A G 8: 84,095,842 Q923R possibly damaging Het
Rps6ka2 T A 17: 7,296,016 F608I probably benign Het
Slc13a1 A T 6: 24,150,708 probably null Het
Slc6a20b C T 9: 123,607,602 V249M probably damaging Het
Slc9c1 A G 16: 45,581,598 I783V possibly damaging Het
Swap70 G T 7: 110,274,649 M401I probably benign Het
Tmco4 A T 4: 139,029,877 I407F probably damaging Het
Trpm4 T A 7: 45,318,488 S340C possibly damaging Het
Tsc2 T C 17: 24,629,969 E79G probably damaging Het
Ubr1 A C 2: 120,941,091 S439A probably benign Het
Vmn1r73 T C 7: 11,756,783 V176A probably benign Het
Vmn2r17 G A 5: 109,420,211 D67N probably benign Het
Wasf1 C T 10: 40,930,709 T116M probably damaging Het
Zkscan3 A T 13: 21,393,994 M241K probably benign Het
Other mutations in Rgs11
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02670: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
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
R8025:Rgs11 UTSW 17 26204385 critical splice donor site probably null
Z1088:Rgs11 UTSW 17 26205772 missense probably benign 0.01
Posted On2015-04-16