Incidental Mutation 'IGL02150:Rgs11'
ID281977
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: 0.259) question?
Stock #IGL02150
Quality Score
Status
Chromosome17
Chromosomal Location26202951-26211324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26202994 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 6 (T6S)
Ref Sequence ENSEMBL: ENSMUSP00000113885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000025020] [ENSMUST00000039113] [ENSMUST00000120333] [ENSMUST00000121959] [ENSMUST00000122058] [ENSMUST00000176961]
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
AA Change: T8S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: T8S

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: ENSMUST00000039113
SMART Domains Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 46 153 1.5e-26 PFAM
Pfam:Thioredoxin_6 182 369 3.2e-37 PFAM
Pfam:Thioredoxin 392 497 2.4e-27 PFAM
low complexity region 501 515 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120333
SMART Domains Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 46 153 2.6e-27 PFAM
Pfam:Thioredoxin_6 181 366 2e-37 PFAM
Pfam:Thioredoxin 389 494 7.2e-28 PFAM
low complexity region 498 512 N/A INTRINSIC
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
AA Change: T6S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: T6S

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 probably benign
Transcript: ENSMUST00000142410
SMART Domains Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
Pfam:Thioredoxin 38 145 3.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152299
Predicted Effect probably benign
Transcript: ENSMUST00000176961
SMART Domains Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433

DomainStartEndE-ValueType
Pfam:Rho_GDI 14 222 1.9e-83 PFAM
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,297,859 G918D possibly damaging Het
9530053A07Rik T A 7: 28,146,779 Y965* probably null Het
AI464131 A G 4: 41,499,183 V149A possibly damaging Het
Ankdd1a C T 9: 65,512,719 G92S probably damaging Het
Arid1a A T 4: 133,687,257 M1221K unknown Het
Arl10 G A 13: 54,578,849 V147M probably damaging Het
Bbs4 T C 9: 59,336,368 N152S probably benign Het
Cacna2d2 T G 9: 107,527,316 probably benign Het
Capn9 A G 8: 124,613,843 E582G probably benign Het
Cct2 A T 10: 117,062,099 L61Q probably damaging Het
Clip4 A G 17: 71,799,076 I85V probably damaging Het
Daam2 A T 17: 49,490,304 L151Q possibly damaging Het
Dlst T A 12: 85,131,033 I400N possibly damaging Het
Dock7 A T 4: 99,079,852 probably benign Het
Dynlrb2 A G 8: 116,515,710 N93S probably benign Het
Efl1 A G 7: 82,686,691 T407A probably benign Het
Emilin1 A G 5: 30,920,173 D891G possibly damaging Het
Enpp4 A C 17: 44,102,158 S162A probably benign Het
Epas1 A G 17: 86,805,289 D105G probably damaging Het
Gcn1l1 T A 5: 115,609,868 I1778N probably damaging Het
Gm14496 A C 2: 181,991,347 D41A probably damaging Het
Gm7008 T A 12: 40,223,258 probably benign Het
Hcfc2 G A 10: 82,710,018 S246N probably damaging Het
Hectd1 T C 12: 51,769,191 N1366S probably damaging Het
Lgmn T C 12: 102,395,727 R372G possibly damaging Het
Map2k7 A G 8: 4,243,818 M153V possibly damaging Het
Megf8 T A 7: 25,346,417 probably null Het
Mgat4c A C 10: 102,389,122 E399A probably benign Het
Nfat5 C T 8: 107,367,952 Q942* probably null Het
Notch4 A G 17: 34,584,613 E1502G probably damaging Het
Olfr6 G T 7: 106,956,556 P127T probably damaging Het
Olfr895 A T 9: 38,269,268 I252L possibly damaging Het
Optn A C 2: 5,033,152 I410M probably damaging Het
Ppp1ca G A 19: 4,194,699 probably benign Het
Pramel5 C A 4: 144,273,201 L105F possibly damaging Het
Rad54b T A 4: 11,610,502 N706K probably damaging Het
Sbf1 T C 15: 89,295,480 H1308R probably benign Het
Sec31a T C 5: 100,386,125 probably benign Het
Sh2d5 G A 4: 138,258,242 D334N probably benign Het
Skint5 T A 4: 113,885,791 I360F unknown Het
Slc12a1 G A 2: 125,184,815 D457N probably damaging Het
Slco2a1 C T 9: 103,084,818 A563V probably damaging Het
Snrnp35 G A 5: 124,490,408 A95T probably damaging Het
Snx25 C A 8: 46,116,281 R193L possibly damaging Het
Stxbp5 T G 10: 9,762,821 Q1078P probably damaging Het
Tmc2 A T 2: 130,240,153 I419F probably damaging Het
Tmem87a A T 2: 120,360,076 W525R probably damaging Het
Trhde A T 10: 114,592,108 S428T probably damaging Het
Trp73 G A 4: 154,081,486 A42V possibly damaging Het
Ttn T C 2: 76,848,972 probably benign Het
Ttn C T 2: 76,768,502 V19356M probably damaging Het
Vmn1r170 T A 7: 23,607,040 L289* probably null Het
Vwa5b2 A T 16: 20,604,826 Q1163L probably benign Het
Washc2 T A 6: 116,231,632 probably benign Het
Wdr70 T G 15: 8,082,546 K71T possibly damaging Het
Zbtb41 T C 1: 139,440,448 S625P possibly damaging Het
Zfp518b A G 5: 38,673,789 V291A probably damaging Het
Zfp518b A G 5: 38,673,343 S440P probably damaging Het
Zmym2 G A 14: 56,911,069 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
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
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