Incidental Mutation 'IGL02826:Rgs8'
ID361225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs8
Ensembl Gene ENSMUSG00000042671
Gene Nameregulator of G-protein signaling 8
Synonyms6530413N01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL02826
Quality Score
Status
Chromosome1
Chromosomal Location153653025-153700323 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 153670799 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000147794
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
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
1110004E09Rik A C 16: 90,926,062 D261E probably benign Het
1810041L15Rik A G 15: 84,420,129 probably benign Het
4930404N11Rik A G 10: 81,364,736 probably benign Het
A3galt2 T C 4: 128,761,509 probably benign Het
Alk C T 17: 71,869,536 G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 S34P probably benign Het
Atp2a2 A G 5: 122,489,291 V137A probably benign Het
Atp8b5 A G 4: 43,366,770 M845V probably damaging Het
Camk1d A G 2: 5,565,760 V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 T193I probably benign Het
Chst15 T A 7: 132,266,746 D315V probably damaging Het
Cux1 G T 5: 136,308,003 P885Q probably damaging Het
Cyth1 C T 11: 118,185,481 E88K possibly damaging Het
Dido1 A G 2: 180,683,958 V479A probably benign Het
Dlc1 G T 8: 36,570,275 probably benign Het
H2-Ab1 G A 17: 34,264,911 R82Q probably damaging Het
Hps6 T A 19: 46,006,041 *806K probably null Het
Ilf3 T C 9: 21,398,044 S486P probably benign Het
Kdm1b C A 13: 47,080,467 T759K probably damaging Het
Kirrel C A 3: 87,088,485 V381F probably damaging Het
Kmt2b A T 7: 30,577,144 V1701E probably damaging Het
Lrmda T C 14: 22,828,737 Y100H probably damaging Het
Mastl T C 2: 23,145,409 I169V probably damaging Het
Mroh2b A G 15: 4,962,148 E1576G probably damaging Het
Nek3 A T 8: 22,160,368 probably null Het
Nipal3 G T 4: 135,468,550 Y247* probably null Het
Nt5e A C 9: 88,355,705 K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 I91V possibly damaging Het
Olfr974 G T 9: 39,942,958 G233C probably damaging Het
Opa1 A G 16: 29,610,887 M290V probably null Het
Parp2 T A 14: 50,815,415 I155K probably benign Het
Pde4dip G T 3: 97,767,087 A171E probably damaging Het
Prom2 C T 2: 127,531,116 E678K probably benign Het
Rab12 A G 17: 66,498,116 probably benign Het
Setd3 A G 12: 108,112,124 probably benign Het
Slx4ip G A 2: 137,004,973 V53I probably damaging Het
Stil A G 4: 115,024,098 D613G probably benign Het
Tjp3 T A 10: 81,273,689 S858C probably damaging Het
Tmem215 A G 4: 40,474,632 *236W probably null Het
Ttbk1 A G 17: 46,470,660 V389A probably benign Het
Wdfy4 A G 14: 32,971,750 F2706S possibly damaging Het
Xpo4 C A 14: 57,629,420 V222L possibly damaging Het
Zfc3h1 A G 10: 115,400,904 S428G probably benign Het
Zfp286 T C 11: 62,787,960 Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 K468E probably damaging Het
Other mutations in Rgs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Rgs8 APN 1 153692723 critical splice acceptor site probably null
IGL02163:Rgs8 APN 1 153671765 missense possibly damaging 0.71
IGL03345:Rgs8 APN 1 153692810 missense probably benign 0.34
R0561:Rgs8 UTSW 1 153665922 splice site probably null
R0801:Rgs8 UTSW 1 153670811 missense probably damaging 1.00
R3618:Rgs8 UTSW 1 153690996 missense probably null 0.35
R4058:Rgs8 UTSW 1 153690996 missense probably null 0.35
R4059:Rgs8 UTSW 1 153690996 missense probably null 0.35
R4877:Rgs8 UTSW 1 153692887 unclassified probably benign
R5070:Rgs8 UTSW 1 153665904 missense probably damaging 0.97
R5841:Rgs8 UTSW 1 153692828 missense probably damaging 1.00
R6028:Rgs8 UTSW 1 153690988 missense probably damaging 1.00
R6413:Rgs8 UTSW 1 153692873 missense probably damaging 1.00
X0028:Rgs8 UTSW 1 153670846 missense probably damaging 1.00
Posted On2015-12-18