Incidental Mutation 'IGL02617:Rgs11'
ID300698
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: 0.218) question?
Stock #IGL02617
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,574,444 Q172* probably null Het
Adgrg5 A G 8: 94,933,982 D79G probably benign Het
Aga G A 8: 53,520,313 D249N possibly damaging Het
Aifm3 A G 16: 17,500,533 Q170R probably null Het
Cdh2 T A 18: 16,627,604 N512Y probably damaging Het
Chd8 A G 14: 52,235,191 I385T probably benign Het
Clic6 A G 16: 92,499,318 K289E probably benign Het
Ctcf G T 8: 105,677,210 probably benign Het
Fam129a T A 1: 151,571,545 S6T probably benign Het
Fam160a1 A T 3: 85,673,037 D620E probably benign Het
Fat1 T C 8: 45,035,591 Y3447H probably benign Het
Fmo2 T A 1: 162,876,921 Q472L probably damaging Het
Gcnt3 C A 9: 70,034,162 G375W probably damaging Het
Golga3 T A 5: 110,188,746 V417E probably benign Het
Hivep3 T C 4: 120,095,444 L319P probably benign Het
Kctd13 A G 7: 126,942,332 K248R possibly damaging Het
Magel2 G A 7: 62,380,198 R950H unknown Het
Nmt2 A G 2: 3,314,713 I247V probably benign Het
Olfr294 T G 7: 86,615,664 H327P probably benign Het
Olfr390 T A 11: 73,787,734 N265K probably benign Het
Pcdhb12 T C 18: 37,437,046 V415A probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prr27 T A 5: 87,842,659 N43K probably benign Het
Sec24a A T 11: 51,712,187 probably null Het
Srek1ip1 C A 13: 104,837,476 H130Q possibly damaging Het
Trio C T 15: 27,841,849 probably benign Het
Ttn A G 2: 76,778,270 probably benign Het
Vmn2r65 C A 7: 84,940,341 S789I probably damaging Het
Zbtb17 A G 4: 141,465,088 Q448R probably 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
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
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
Z1088:Rgs11 UTSW 17 26205772 missense probably benign 0.01
Posted On2015-04-16