Incidental Mutation 'R3692:Rgs11'
ID 268843
Institutional Source Beutler Lab
Gene Symbol Rgs11
Ensembl Gene ENSMUSG00000024186
Gene Name regulator of G-protein signaling 11
Synonyms
MMRRC Submission 040687-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R3692 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 26421925-26430298 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 26423302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000025020] [ENSMUST00000121959] [ENSMUST00000122058] [ENSMUST00000176961]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025019
SMART Domains Protein: ENSMUSP00000025019
Gene: ENSMUSG00000073433

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
Pfam:Rho_GDI 29 222 1.2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025020
SMART Domains Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186

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: ENSMUST00000121959
SMART Domains Protein: ENSMUSP00000113186
Gene: ENSMUSG00000073433

DomainStartEndE-ValueType
Pfam:Rho_GDI 14 197 6.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122058
SMART Domains Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186

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: ENSMUST00000147220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155556
Predicted Effect probably benign
Transcript: ENSMUST00000176961
SMART Domains Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433

DomainStartEndE-ValueType
Pfam:Rho_GDI 14 222 1.9e-83 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (42/43)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T C 5: 121,657,385 (GRCm39) D636G probably damaging Het
Adgrv1 A G 13: 81,672,719 (GRCm39) V2218A possibly damaging Het
Ano5 T A 7: 51,240,327 (GRCm39) Y752N probably damaging Het
Bltp2 A G 11: 78,160,335 (GRCm39) D598G probably damaging Het
Calca T C 7: 114,233,796 (GRCm39) E45G probably damaging Het
Cdk8 C T 5: 146,220,478 (GRCm39) R166* probably null Het
Chsy1 T A 7: 65,821,001 (GRCm39) M412K probably damaging Het
Cic T A 7: 24,988,338 (GRCm39) Y1675* probably null Het
Col1a2 T A 6: 4,510,710 (GRCm39) D53E possibly damaging Het
Dennd6b A G 15: 89,071,030 (GRCm39) probably benign Het
Fut10 T A 8: 31,726,048 (GRCm39) Y268N possibly damaging Het
Glrx3 T C 7: 137,060,846 (GRCm39) probably benign Het
Gucy1b2 T A 14: 62,642,076 (GRCm39) N697I probably damaging Het
Ifi208 T C 1: 173,510,438 (GRCm39) S198P possibly damaging Het
Krt34 A G 11: 99,929,857 (GRCm39) V213A probably damaging Het
Lats2 T C 14: 57,928,998 (GRCm39) N959S probably damaging Het
Mat1a A G 14: 40,843,338 (GRCm39) Y288C probably damaging Het
Mtif2 A T 11: 29,490,718 (GRCm39) H474L probably benign Het
Myh8 A G 11: 67,192,744 (GRCm39) I1512V probably damaging Het
Nkx2-6 T C 14: 69,409,476 (GRCm39) S76P probably benign Het
Noxred1 G A 12: 87,280,240 (GRCm39) R31W probably benign Het
Or14c46 T A 7: 85,918,703 (GRCm39) Q98L probably damaging Het
Or4a69 T A 2: 89,313,240 (GRCm39) M80L probably benign Het
Pcdhb16 C A 18: 37,611,340 (GRCm39) T100K probably benign Het
Pcdhga10 T C 18: 37,881,384 (GRCm39) C382R probably damaging Het
Pdgfra A T 5: 75,349,948 (GRCm39) Y944F possibly damaging Het
Pkhd1 A G 1: 20,625,353 (GRCm39) I741T possibly damaging Het
Ppp1r10 A G 17: 36,241,760 (GRCm39) D845G unknown Het
Rfk C A 19: 17,376,834 (GRCm39) probably null Het
Spata31d1b T C 13: 59,865,705 (GRCm39) V951A probably benign Het
St3gal5 T C 6: 72,126,013 (GRCm39) V286A probably benign Het
St7l T C 3: 104,798,870 (GRCm39) M320T probably benign Het
Tnfrsf1b G T 4: 144,954,092 (GRCm39) Q86K probably benign Het
Tox T C 4: 6,697,535 (GRCm39) I423V probably benign Het
Tpbpa T A 13: 61,087,827 (GRCm39) H88L probably benign Het
Vmn1r236 A G 17: 21,507,068 (GRCm39) Y62C probably benign Het
Ythdc1 A G 5: 86,970,526 (GRCm39) I399M probably damaging Het
Zfp948 T G 17: 21,807,838 (GRCm39) D343E probably benign Het
Zswim6 A G 13: 107,863,076 (GRCm39) noncoding transcript Het
Other mutations in Rgs11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Rgs11 APN 17 26,426,371 (GRCm39) missense probably damaging 1.00
IGL01617:Rgs11 APN 17 26,427,224 (GRCm39) missense probably damaging 1.00
IGL02150:Rgs11 APN 17 26,421,968 (GRCm39) missense probably benign 0.05
IGL02610:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02612:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02617:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02669:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02670:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02674:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02706:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02707:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02741:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
R0147:Rgs11 UTSW 17 26,426,433 (GRCm39) critical splice donor site probably null
R0148:Rgs11 UTSW 17 26,426,433 (GRCm39) critical splice donor site probably null
R0508:Rgs11 UTSW 17 26,426,443 (GRCm39) splice site probably benign
R0744:Rgs11 UTSW 17 26,422,292 (GRCm39) missense probably damaging 1.00
R1479:Rgs11 UTSW 17 26,427,257 (GRCm39) splice site probably null
R1599:Rgs11 UTSW 17 26,427,223 (GRCm39) missense probably damaging 1.00
R1779:Rgs11 UTSW 17 26,429,640 (GRCm39) missense probably damaging 1.00
R3807:Rgs11 UTSW 17 26,422,474 (GRCm39) missense probably damaging 0.99
R3889:Rgs11 UTSW 17 26,426,561 (GRCm39) missense probably damaging 0.98
R4689:Rgs11 UTSW 17 26,423,521 (GRCm39) critical splice donor site probably null
R4832:Rgs11 UTSW 17 26,426,542 (GRCm39) missense probably benign 0.00
R5052:Rgs11 UTSW 17 26,426,947 (GRCm39) intron probably benign
R5330:Rgs11 UTSW 17 26,421,947 (GRCm39) start codon destroyed probably benign 0.01
R5331:Rgs11 UTSW 17 26,421,947 (GRCm39) start codon destroyed probably benign 0.01
R5683:Rgs11 UTSW 17 26,424,155 (GRCm39) missense probably benign 0.32
R5879:Rgs11 UTSW 17 26,422,437 (GRCm39) unclassified probably benign
R6156:Rgs11 UTSW 17 26,429,439 (GRCm39) nonsense probably null
R6671:Rgs11 UTSW 17 26,427,272 (GRCm39) missense probably damaging 1.00
R7432:Rgs11 UTSW 17 26,426,734 (GRCm39) missense probably damaging 0.99
R7609:Rgs11 UTSW 17 26,426,415 (GRCm39) missense probably damaging 1.00
R7795:Rgs11 UTSW 17 26,426,552 (GRCm39) missense possibly damaging 0.88
R7820:Rgs11 UTSW 17 26,424,169 (GRCm39) splice site probably null
R8025:Rgs11 UTSW 17 26,423,359 (GRCm39) critical splice donor site probably null
R8755:Rgs11 UTSW 17 26,422,346 (GRCm39) missense probably damaging 0.98
R8856:Rgs11 UTSW 17 26,423,484 (GRCm39) missense probably damaging 0.96
R8977:Rgs11 UTSW 17 26,427,233 (GRCm39) missense probably damaging 1.00
R9214:Rgs11 UTSW 17 26,427,260 (GRCm39) missense probably damaging 1.00
Z1088:Rgs11 UTSW 17 26,424,746 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTTTACAGGACCCGGAGTTCC -3'
(R):5'- TGTTCTTCTTAGCCAGATAGATGG -3'

Sequencing Primer
(F):5'- AGTGGTAGCGCACACCTTTAATC -3'
(R):5'- GCTGGAAGGACAGGAACATAATGC -3'
Posted On 2015-02-19