Incidental Mutation 'IGL02826:Rgs8'
ID 361225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs8
Ensembl Gene ENSMUSG00000042671
Gene Name regulator of G-protein signaling 8
Synonyms 6530413N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL02826
Quality Score
Status
Chromosome 1
Chromosomal Location 153528612-153573415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153546545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 13 (T13S)
Ref Sequence ENSEMBL: ENSMUSP00000107446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041776] [ENSMUST00000111810] [ENSMUST00000111812] [ENSMUST00000111814] [ENSMUST00000111815] [ENSMUST00000124500] [ENSMUST00000147482] [ENSMUST00000147700] [ENSMUST00000152114]
AlphaFold Q8BXT1
Predicted Effect possibly damaging
Transcript: ENSMUST00000041776
AA Change: T15S

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671
AA Change: T15S

DomainStartEndE-ValueType
RGS 56 172 1.83e-53 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111810
AA Change: T15S

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671
AA Change: T15S

DomainStartEndE-ValueType
RGS 56 172 1.83e-53 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111812
AA Change: T15S

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671
AA Change: T15S

DomainStartEndE-ValueType
RGS 56 172 1.83e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111814
AA Change: T13S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671
AA Change: T13S

DomainStartEndE-ValueType
RGS 54 170 1.83e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111815
AA Change: T13S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671
AA Change: T13S

DomainStartEndE-ValueType
RGS 54 170 1.83e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124500
AA Change: T15S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122518
Gene: ENSMUSG00000042671
AA Change: T15S

DomainStartEndE-ValueType
Pfam:RGS 56 99 2.3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147482
AA Change: T13S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118365
Gene: ENSMUSG00000042671
AA Change: T13S

DomainStartEndE-ValueType
Pfam:RGS 54 115 6.5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147700
AA Change: T15S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123565
Gene: ENSMUSG00000042671
AA Change: T15S

DomainStartEndE-ValueType
Pfam:RGS 56 115 1.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152114
AA Change: T15S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671
AA Change: T15S

DomainStartEndE-ValueType
RGS 56 137 1.52e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147794
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and Purkinje cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,302 (GRCm39) probably benign Het
Alk C T 17: 72,176,531 (GRCm39) G1591D probably damaging Het
Angptl2 T C 2: 33,118,327 (GRCm39) S34P probably benign Het
Atp2a2 A G 5: 122,627,354 (GRCm39) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm39) M845V probably damaging Het
Camk1d A G 2: 5,570,571 (GRCm39) V30A possibly damaging Het
Ceacam19 G A 7: 19,616,535 (GRCm39) T193I probably benign Het
Cfap298 A C 16: 90,722,950 (GRCm39) D261E probably benign Het
Chst15 T A 7: 131,868,475 (GRCm39) D315V probably damaging Het
Cux1 G T 5: 136,336,857 (GRCm39) P885Q probably damaging Het
Cyth1 C T 11: 118,076,307 (GRCm39) E88K possibly damaging Het
Dido1 A G 2: 180,325,751 (GRCm39) V479A probably benign Het
Dlc1 G T 8: 37,037,429 (GRCm39) probably benign Het
H2-Ab1 G A 17: 34,483,885 (GRCm39) R82Q probably damaging Het
Hps6 T A 19: 45,994,480 (GRCm39) *806K probably null Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Kdm1b C A 13: 47,233,943 (GRCm39) T759K probably damaging Het
Kirrel1 C A 3: 86,995,792 (GRCm39) V381F probably damaging Het
Kmt2b A T 7: 30,276,569 (GRCm39) V1701E probably damaging Het
Lrmda T C 14: 22,878,805 (GRCm39) Y100H probably damaging Het
Mastl T C 2: 23,035,421 (GRCm39) I169V probably damaging Het
Mroh2b A G 15: 4,991,630 (GRCm39) E1576G probably damaging Het
Nek3 A T 8: 22,650,384 (GRCm39) probably null Het
Nipal3 G T 4: 135,195,861 (GRCm39) Y247* probably null Het
Nt5e A C 9: 88,237,758 (GRCm39) K229N probably damaging Het
Opa1 A G 16: 29,429,705 (GRCm39) M290V probably null Het
Or2a14 A G 6: 43,130,511 (GRCm39) I91V possibly damaging Het
Or8d6 G T 9: 39,854,254 (GRCm39) G233C probably damaging Het
Parp2 T A 14: 51,052,872 (GRCm39) I155K probably benign Het
Pde4dip G T 3: 97,674,403 (GRCm39) A171E probably damaging Het
Prom2 C T 2: 127,373,036 (GRCm39) E678K probably benign Het
Rab12 A G 17: 66,805,111 (GRCm39) probably benign Het
Setd3 A G 12: 108,078,383 (GRCm39) probably benign Het
Shisal1 A G 15: 84,304,330 (GRCm39) probably benign Het
Slx4ip G A 2: 136,846,893 (GRCm39) V53I probably damaging Het
Stil A G 4: 114,881,295 (GRCm39) D613G probably benign Het
Tektip1 A G 10: 81,200,570 (GRCm39) probably benign Het
Tjp3 T A 10: 81,109,523 (GRCm39) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm39) *236W probably null Het
Ttbk1 A G 17: 46,781,586 (GRCm39) V389A probably benign Het
Wdfy4 A G 14: 32,693,707 (GRCm39) F2706S possibly damaging Het
Xpo4 C A 14: 57,866,877 (GRCm39) V222L possibly damaging Het
Zfc3h1 A G 10: 115,236,809 (GRCm39) S428G probably benign Het
Zfp286 T C 11: 62,678,786 (GRCm39) Q47R probably damaging Het
Zfp318 A G 17: 46,709,680 (GRCm39) K468E probably damaging Het
Other mutations in Rgs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Rgs8 APN 1 153,568,469 (GRCm39) critical splice acceptor site probably null
IGL02163:Rgs8 APN 1 153,547,511 (GRCm39) missense possibly damaging 0.71
IGL03345:Rgs8 APN 1 153,568,556 (GRCm39) missense probably benign 0.34
R0561:Rgs8 UTSW 1 153,541,668 (GRCm39) splice site probably null
R0801:Rgs8 UTSW 1 153,546,557 (GRCm39) missense probably damaging 1.00
R3618:Rgs8 UTSW 1 153,566,742 (GRCm39) missense probably null 0.35
R4058:Rgs8 UTSW 1 153,566,742 (GRCm39) missense probably null 0.35
R4059:Rgs8 UTSW 1 153,566,742 (GRCm39) missense probably null 0.35
R4877:Rgs8 UTSW 1 153,568,633 (GRCm39) unclassified probably benign
R5070:Rgs8 UTSW 1 153,541,650 (GRCm39) missense probably damaging 0.97
R5841:Rgs8 UTSW 1 153,568,574 (GRCm39) missense probably damaging 1.00
R6028:Rgs8 UTSW 1 153,566,734 (GRCm39) missense probably damaging 1.00
R6413:Rgs8 UTSW 1 153,568,619 (GRCm39) missense probably damaging 1.00
R7682:Rgs8 UTSW 1 153,566,668 (GRCm39) missense probably damaging 1.00
R8746:Rgs8 UTSW 1 153,547,537 (GRCm39) missense probably damaging 1.00
R8951:Rgs8 UTSW 1 153,546,567 (GRCm39) missense probably damaging 0.98
X0028:Rgs8 UTSW 1 153,546,592 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18