Incidental Mutation 'IGL01314:Rgs13'
ID 73786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs13
Ensembl Gene ENSMUSG00000051079
Gene Name regulator of G-protein signaling 13
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01314
Quality Score
Chromosome 1
Chromosomal Location 144138654-144177372 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 144171441 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 14 (D14A)
Ref Sequence ENSEMBL: ENSMUSP00000107572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052375] [ENSMUST00000111941]
AlphaFold Q8K443
Predicted Effect probably benign
Transcript: ENSMUST00000052375
AA Change: D14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058813
Gene: ENSMUSG00000051079
AA Change: D14A

RGS 34 150 1.86e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111941
AA Change: D14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107572
Gene: ENSMUSG00000051079
AA Change: D14A

RGS 34 150 1.86e-45 SMART
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 is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased mast cell degranulation and increased anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A C 10: 100,573,611 D313E probably damaging Het
Adamts12 C T 15: 11,071,853 A161V probably benign Het
Bptf A T 11: 107,054,853 V2520E probably damaging Het
C87436 T C 6: 86,457,855 F395S probably damaging Het
Capn1 T C 19: 5,989,984 probably benign Het
Ceacam5 T A 7: 17,747,256 Y309* probably null Het
Clasp2 A G 9: 113,906,127 D1011G possibly damaging Het
Csmd3 A G 15: 47,849,755 Y1608H probably damaging Het
Dcaf1 T C 9: 106,834,191 I77T probably benign Het
Dcdc2a T C 13: 25,102,604 L170P probably damaging Het
Ddx28 A G 8: 106,010,580 F282S probably damaging Het
Egf A G 3: 129,686,260 I497T probably benign Het
Emsy A G 7: 98,593,455 V1159A probably benign Het
Fam46c T C 3: 100,473,174 K89E probably benign Het
Hk3 C A 13: 55,007,063 probably benign Het
Htt A G 5: 34,878,856 D2049G probably benign Het
Inpp5d C A 1: 87,683,750 S45* probably null Het
Irf8 A G 8: 120,753,380 Y119C probably damaging Het
Klk1b4 T C 7: 44,211,176 probably null Het
Macf1 A G 4: 123,486,720 S1273P probably damaging Het
Man2c1 A T 9: 57,141,819 H867L probably benign Het
Mgat4e T C 1: 134,541,449 T286A probably damaging Het
Mug2 T C 6: 122,081,279 F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 E128D probably damaging Het
Olfr1331 G A 4: 118,869,131 V117I probably benign Het
Pds5a A G 5: 65,615,294 V1322A probably benign Het
Poc1b C T 10: 99,129,641 T144I probably damaging Het
Prcc T A 3: 87,870,080 N196Y probably damaging Het
Psma5 G A 3: 108,279,795 V237M possibly damaging Het
Rap1gds1 A G 3: 139,050,561 L11P probably damaging Het
Rapgef3 A G 15: 97,748,223 F132S probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tcerg1 C A 18: 42,573,309 A1017D probably damaging Het
Tmem79 T C 3: 88,332,576 I276V possibly damaging Het
Tmem94 C A 11: 115,790,009 H113N probably damaging Het
Vil1 G A 1: 74,428,238 D715N probably damaging Het
Vmn2r96 A G 17: 18,582,964 T187A probably benign Het
Zfhx4 T A 3: 5,413,094 S3590T probably damaging Het
Other mutations in Rgs13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Rgs13 APN 1 144171414 splice site probably benign
R3876:Rgs13 UTSW 1 144140790 nonsense probably null
R4574:Rgs13 UTSW 1 144140845 missense probably damaging 1.00
R4878:Rgs13 UTSW 1 144171479 start codon destroyed probably null 0.97
R5359:Rgs13 UTSW 1 144139584 missense probably damaging 1.00
R5504:Rgs13 UTSW 1 144139620 missense possibly damaging 0.91
R5753:Rgs13 UTSW 1 144140740 missense probably benign 0.00
R6490:Rgs13 UTSW 1 144140838 missense probably damaging 1.00
R7937:Rgs13 UTSW 1 144140862 missense probably damaging 1.00
R8787:Rgs13 UTSW 1 144140744 missense probably damaging 1.00
Posted On 2013-10-07