Incidental Mutation 'R3807:Rgs11'
ID 274997
Institutional Source Beutler Lab
Gene Symbol Rgs11
Ensembl Gene ENSMUSG00000024186
Gene Name regulator of G-protein signaling 11
Synonyms
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26421925-26430298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26422474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 69 (I69F)
Ref Sequence ENSEMBL: ENSMUSP00000025020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000025020] [ENSMUST00000039113] [ENSMUST00000120333] [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 damaging
Transcript: ENSMUST00000025020
AA Change: I69F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: I69F

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 damaging
Transcript: ENSMUST00000122058
AA Change: I67F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: I67F

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: 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: ENSMUST00000139639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152299
Predicted Effect probably benign
Transcript: ENSMUST00000142410
SMART Domains Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
Pfam:Thioredoxin 38 145 3.8e-25 PFAM
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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging 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
R3692:Rgs11 UTSW 17 26,423,302 (GRCm39) unclassified probably benign
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'- CTGACCAAGGCGTGAAGATG -3'
(R):5'- GTAAGCTCCACCCTCCCTAAGTAG -3'

Sequencing Primer
(F):5'- CAAGGCGTGAAGATGCGGAG -3'
(R):5'- TGACCTGGAACCTGTAGGG -3'
Posted On 2015-04-02