Incidental Mutation 'IGL01583:Rgs19'
ID91418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs19
Ensembl Gene ENSMUSG00000002458
Gene Nameregulator of G-protein signaling 19
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01583
Quality Score
Status
Chromosome2
Chromosomal Location181688419-181693977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 181689453 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 129 (E129G)
Ref Sequence ENSEMBL: ENSMUSP00000129026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002532] [ENSMUST00000103042] [ENSMUST00000108769] [ENSMUST00000108771] [ENSMUST00000108772] [ENSMUST00000108776] [ENSMUST00000108778] [ENSMUST00000108779] [ENSMUST00000129745] [ENSMUST00000165416]
Predicted Effect probably damaging
Transcript: ENSMUST00000002532
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
AA Change: E129G

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
RGS 90 206 2.73e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103042
SMART Domains Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540

DomainStartEndE-ValueType
TFS2N 7 81 2.51e-25 SMART
low complexity region 114 129 N/A INTRINSIC
TFS2M 136 237 4.14e-51 SMART
ZnF_C2C2 259 298 7.37e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108769
AA Change: E129G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
AA Change: E129G

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
Pfam:RGS 90 160 4.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108771
AA Change: E107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
AA Change: E107G

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
RGS 68 184 2.73e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108772
AA Change: E107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
AA Change: E107G

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
RGS 68 184 2.73e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108776
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
AA Change: E129G

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
RGS 90 206 2.73e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108778
AA Change: E156G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458
AA Change: E156G

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
RGS 117 233 2.73e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108779
SMART Domains Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126844
Predicted Effect probably benign
Transcript: ENSMUST00000129006
SMART Domains Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540

DomainStartEndE-ValueType
Pfam:Med26 27 77 5.1e-17 PFAM
low complexity region 112 127 N/A INTRINSIC
TFS2M 134 235 4.14e-51 SMART
ZnF_C2C2 257 296 7.37e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129686
Predicted Effect probably benign
Transcript: ENSMUST00000129745
SMART Domains Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540

DomainStartEndE-ValueType
Pfam:Med26 21 73 2.1e-20 PFAM
low complexity region 107 122 N/A INTRINSIC
TFS2M 129 230 4.14e-51 SMART
ZnF_C2C2 252 291 7.37e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143510
Predicted Effect unknown
Transcript: ENSMUST00000144476
AA Change: E16G
SMART Domains Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458
AA Change: E16G

DomainStartEndE-ValueType
Pfam:RGS 1 49 3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165416
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458
AA Change: E129G

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
RGS 90 206 2.73e-43 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Rgs19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Rgs19 APN 2 181689588 missense possibly damaging 0.72
IGL02096:Rgs19 APN 2 181689283 missense probably damaging 1.00
IGL02529:Rgs19 APN 2 181689150 missense probably benign 0.08
IGL03126:Rgs19 APN 2 181691321 missense probably benign 0.00
IGL03235:Rgs19 APN 2 181689732 missense probably benign 0.03
R1969:Rgs19 UTSW 2 181689483 missense probably damaging 1.00
R5085:Rgs19 UTSW 2 181689543 missense possibly damaging 0.65
R6083:Rgs19 UTSW 2 181689507 missense probably damaging 1.00
R6852:Rgs19 UTSW 2 181689148 missense possibly damaging 0.71
R7251:Rgs19 UTSW 2 181689748 missense probably benign 0.00
R7535:Rgs19 UTSW 2 181691308 missense probably damaging 0.96
Posted On2013-12-09