Incidental Mutation 'IGL02669:Rgs11'
ID302836
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? Probably non essential (E-score: 0.182) question?
Stock #IGL02669
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A G 6: 48,931,473 Y469C probably damaging Het
A930003A15Rik T A 16: 19,883,755 noncoding transcript Het
Acap1 G A 11: 69,894,595 probably benign Het
Adam7 T C 14: 68,507,894 Y627C probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Bace2 T C 16: 97,436,893 *515R probably null Het
Baiap3 C T 17: 25,244,348 V958M probably damaging Het
Brms1l A T 12: 55,841,616 D63V probably damaging Het
Cnksr1 A T 4: 134,230,463 I435N probably damaging Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Cpne6 A G 14: 55,513,826 N201S probably benign Het
Dnajc12 A G 10: 63,397,292 S71G probably damaging Het
Dpp3 A T 19: 4,923,682 probably null Het
E2f3 A G 13: 29,916,991 S239P probably benign Het
Eif3e T A 15: 43,282,692 M1L probably benign Het
Erap1 A G 13: 74,675,868 T867A probably benign Het
Erlin1 G T 19: 44,039,219 A260E probably damaging Het
Esrp1 A G 4: 11,386,324 V38A possibly damaging Het
Foxn1 T C 11: 78,371,160 R128G probably damaging Het
Gnb3 A G 6: 124,837,725 L70P probably benign Het
Gon4l T C 3: 88,895,499 V1139A probably damaging Het
Gpt2 G T 8: 85,523,279 M463I probably benign Het
Gtpbp3 C A 8: 71,490,902 A201D probably damaging Het
Jaml A C 9: 45,104,191 K331T possibly damaging Het
Kntc1 G A 5: 123,755,664 probably benign Het
Ksr2 A G 5: 117,555,381 K298R probably damaging Het
Mfge8 T C 7: 79,145,681 D46G probably benign Het
Ncam2 T A 16: 81,517,541 N468K probably benign Het
Nup88 A G 11: 70,956,284 M300T probably damaging Het
Olfr1223 T A 2: 89,144,220 K268* probably null Het
Olfr1298 A T 2: 111,645,891 Y35* probably null Het
Olfr547 A G 7: 102,535,661 M305V probably benign Het
Prdm1 A T 10: 44,439,884 M752K probably benign Het
Prl3b1 A T 13: 27,245,812 M78L probably benign Het
Ralgps2 T C 1: 156,832,698 E268G probably damaging Het
Slc4a5 A G 6: 83,263,543 D279G possibly damaging Het
Tanc1 T A 2: 59,799,986 I770K probably damaging Het
Tbl2 G A 5: 135,152,998 R64H probably damaging Het
Tg T A 15: 66,748,726 probably benign Het
Tmprss13 A T 9: 45,332,526 I187F probably benign Het
Tubb3 T C 8: 123,421,117 L263P probably damaging Het
Vmn2r109 T G 17: 20,554,256 D279A possibly damaging Het
Vps33b A G 7: 80,276,038 probably benign Het
Yeats2 A G 16: 20,186,283 S338G probably benign Het
Zfp142 T C 1: 74,571,273 Q1121R probably benign Het
Zic1 G T 9: 91,364,433 H195Q possibly damaging 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
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
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 splice site 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
R8755:Rgs11 UTSW 17 26203372 missense probably damaging 0.98
Z1088:Rgs11 UTSW 17 26205772 missense probably benign 0.01
Posted On2015-04-16