Incidental Mutation 'IGL01624:Rgs4'
ID 92650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs4
Ensembl Gene ENSMUSG00000038530
Gene Name regulator of G-protein signaling 4
Synonyms ESTM50, ESTM48
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01624
Quality Score
Status
Chromosome 1
Chromosomal Location 169569046-169575211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 169572047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 84 (Y84F)
Ref Sequence ENSEMBL: ENSMUSP00000027991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027991] [ENSMUST00000111357]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027991
AA Change: Y84F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027991
Gene: ENSMUSG00000038530
AA Change: Y84F

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
RGS 62 178 4.01e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111357
SMART Domains Protein: ENSMUSP00000106989
Gene: ENSMUSG00000038530

DomainStartEndE-ValueType
PDB:1AGR|H 1 71 4e-31 PDB
Blast:RGS 8 58 3e-13 BLAST
SCOP:d1agre_ 51 70 5e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132567
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele display background dependent partially penetrant embryonic lethality, decreased body weight, and mildly impaired coordination. Another allele displays increased cholesterol levels in males. Mice homozygous for a different null allele exhibit no normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,341,205 (GRCm39) T18I probably damaging Het
Acod1 A G 14: 103,292,669 (GRCm39) T398A probably benign Het
Adgrl2 A G 3: 148,542,163 (GRCm39) V853A probably damaging Het
Ankhd1 T C 18: 36,791,066 (GRCm39) S2488P probably damaging Het
Ankrd28 T C 14: 31,432,814 (GRCm39) I578V probably benign Het
Atp2c2 A C 8: 120,484,189 (GRCm39) R933S probably benign Het
Cyp26a1 A T 19: 37,686,781 (GRCm39) I78F possibly damaging Het
Gck A G 11: 5,853,106 (GRCm39) V338A possibly damaging Het
Ints6 A T 14: 62,934,320 (GRCm39) M729K probably benign Het
Kank2 C A 9: 21,691,676 (GRCm39) G500W probably damaging Het
Kansl1 G A 11: 104,315,378 (GRCm39) T220I probably benign Het
Lgi4 T C 7: 30,767,113 (GRCm39) L380P probably damaging Het
Lhx9 G T 1: 138,760,521 (GRCm39) Y276* probably null Het
Lipm T A 19: 34,098,545 (GRCm39) Y340N probably damaging Het
Mlxip A G 5: 123,533,392 (GRCm39) T134A probably benign Het
Nwd2 A T 5: 63,964,153 (GRCm39) I1246F probably damaging Het
Or14j3 A T 17: 37,900,816 (GRCm39) W143R probably benign Het
Or6c69c T A 10: 129,910,519 (GRCm39) L80H probably damaging Het
Or8h9 A G 2: 86,789,574 (GRCm39) V76A probably benign Het
Rbm44 T A 1: 91,084,380 (GRCm39) N601K probably damaging Het
Scn7a T C 2: 66,582,269 (GRCm39) T131A probably benign Het
Slc34a1 A G 13: 23,998,969 (GRCm39) I121V probably benign Het
Slitrk5 T A 14: 111,918,526 (GRCm39) Y717N probably damaging Het
Sox6 A G 7: 115,076,203 (GRCm39) S770P probably damaging Het
Spata31 T C 13: 65,069,399 (GRCm39) W516R probably damaging Het
Sugt1 A G 14: 79,834,230 (GRCm39) N77S probably benign Het
Sumf1 C T 6: 108,130,162 (GRCm39) D186N probably damaging Het
Syde2 T C 3: 145,712,790 (GRCm39) L709S probably damaging Het
Tcp1 T A 17: 13,138,812 (GRCm39) I163K probably benign Het
Upf2 A T 2: 6,038,990 (GRCm39) E287D probably benign Het
Usp17lb A G 7: 104,491,720 (GRCm39) probably benign Het
Vmn2r10 G A 5: 109,154,112 (GRCm39) S64F possibly damaging Het
Other mutations in Rgs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Rgs4 APN 1 169,572,085 (GRCm39) nonsense probably null
R1654:Rgs4 UTSW 1 169,572,880 (GRCm39) missense probably benign 0.06
R1775:Rgs4 UTSW 1 169,572,847 (GRCm39) missense probably benign 0.00
R3790:Rgs4 UTSW 1 169,571,991 (GRCm39) missense probably damaging 0.99
R4998:Rgs4 UTSW 1 169,572,802 (GRCm39) missense probably benign 0.26
R5934:Rgs4 UTSW 1 169,572,807 (GRCm39) missense possibly damaging 0.95
R7031:Rgs4 UTSW 1 169,571,336 (GRCm39) missense probably benign
R7571:Rgs4 UTSW 1 169,571,927 (GRCm39) missense probably damaging 1.00
R9633:Rgs4 UTSW 1 169,572,843 (GRCm39) missense possibly damaging 0.88
Posted On 2013-12-09