Incidental Mutation 'IGL01301:Rgs13'
ID 73260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs13
Ensembl Gene ENSMUSG00000051079
Gene Name regulator of G-protein signaling 13
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01301
Quality Score
Status
Chromosome 1
Chromosomal Location 144014392-144053110 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 144047152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052375] [ENSMUST00000111941]
AlphaFold Q8K443
Predicted Effect probably benign
Transcript: ENSMUST00000052375
SMART Domains Protein: ENSMUSP00000058813
Gene: ENSMUSG00000051079

DomainStartEndE-ValueType
RGS 34 150 1.86e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111941
SMART Domains Protein: ENSMUSP00000107572
Gene: ENSMUSG00000051079

DomainStartEndE-ValueType
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
Defb21 A G 2: 152,416,671 (GRCm39) E49G possibly damaging Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Gm9884 T A 1: 25,869,729 (GRCm39) probably benign Het
Hectd2 T C 19: 36,546,770 (GRCm39) probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mindy1 T C 3: 95,195,701 (GRCm39) L148P probably damaging Het
Mkrn2 C A 6: 115,588,750 (GRCm39) Y164* probably null Het
Msra T C 14: 64,447,884 (GRCm39) Y135C probably damaging Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Ngdn G T 14: 55,254,571 (GRCm39) A41S probably benign Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rad23b T C 4: 55,366,774 (GRCm39) probably benign Het
Sfpq T C 4: 126,920,553 (GRCm39) probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Slco1a1 A G 6: 141,878,256 (GRCm39) probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Vmn1r18 T C 6: 57,366,652 (GRCm39) probably benign Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp395 T A 14: 65,632,200 (GRCm39) probably null Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M probably damaging Het
Other mutations in Rgs13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Rgs13 APN 1 144,047,179 (GRCm39) missense probably benign
R3876:Rgs13 UTSW 1 144,016,528 (GRCm39) nonsense probably null
R4574:Rgs13 UTSW 1 144,016,583 (GRCm39) missense probably damaging 1.00
R4878:Rgs13 UTSW 1 144,047,217 (GRCm39) start codon destroyed probably null 0.97
R5359:Rgs13 UTSW 1 144,015,322 (GRCm39) missense probably damaging 1.00
R5504:Rgs13 UTSW 1 144,015,358 (GRCm39) missense possibly damaging 0.91
R5753:Rgs13 UTSW 1 144,016,478 (GRCm39) missense probably benign 0.00
R6490:Rgs13 UTSW 1 144,016,576 (GRCm39) missense probably damaging 1.00
R7937:Rgs13 UTSW 1 144,016,600 (GRCm39) missense probably damaging 1.00
R8787:Rgs13 UTSW 1 144,016,482 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07