Incidental Mutation 'R7795:Rgs11'
| ID |
600195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs11
|
| Ensembl Gene |
ENSMUSG00000024186 |
| Gene Name |
regulator of G-protein signaling 11 |
| Synonyms |
|
| MMRRC Submission |
045851-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R7795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26426552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 261
(H261R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025020]
[ENSMUST00000114988]
[ENSMUST00000122058]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025020
AA Change: H261R
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: H261R
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
34 |
109 |
7.78e-17 |
SMART |
|
G_gamma
|
220 |
284 |
1.38e-19 |
SMART |
|
GGL
|
223 |
284 |
1.1e-26 |
SMART |
|
RGS
|
303 |
418 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114988
|
| SMART Domains |
Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122058
AA Change: H259R
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: H259R
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
32 |
107 |
7.78e-17 |
SMART |
|
G_gamma
|
218 |
282 |
1.38e-19 |
SMART |
|
GGL
|
221 |
282 |
1.1e-26 |
SMART |
|
RGS
|
301 |
416 |
6.23e-47 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal cone and rod b-wave electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle1 |
T |
C |
8: 71,861,337 (GRCm39) |
S391P |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,570 (GRCm39) |
Q606R |
probably benign |
Het |
| Bmf |
A |
G |
2: 118,377,358 (GRCm39) |
L130P |
probably damaging |
Het |
| Ccdc88c |
G |
A |
12: 100,889,570 (GRCm39) |
T1491I |
probably benign |
Het |
| Cyp2c69 |
G |
A |
19: 39,864,663 (GRCm39) |
R272C |
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,806,354 (GRCm39) |
N78S |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,101,447 (GRCm39) |
D912E |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,099,288 (GRCm39) |
D743N |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,950,983 (GRCm39) |
V190A |
probably benign |
Het |
| Exoc2 |
G |
A |
13: 31,060,756 (GRCm39) |
R583* |
probably null |
Het |
| Extl1 |
T |
A |
4: 134,091,990 (GRCm39) |
I288F |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,732,910 (GRCm39) |
Y299F |
probably benign |
Het |
| Frmd4a |
G |
A |
2: 4,595,506 (GRCm39) |
G439R |
probably damaging |
Het |
| Gal3st4 |
T |
C |
5: 138,269,100 (GRCm39) |
H120R |
probably benign |
Het |
| Grid1 |
C |
A |
14: 35,043,642 (GRCm39) |
N332K |
probably damaging |
Het |
| Igkv4-68 |
A |
G |
6: 69,281,896 (GRCm39) |
Y92H |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,148,772 (GRCm39) |
E283G |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrc24 |
A |
G |
15: 76,602,248 (GRCm39) |
L169P |
probably benign |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,812,243 (GRCm39) |
T131A |
probably benign |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,460,154 (GRCm39) |
D383E |
probably damaging |
Het |
| Neto1 |
A |
T |
18: 86,479,198 (GRCm39) |
K167N |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,628 (GRCm39) |
L158Q |
unknown |
Het |
| Nlrp5 |
G |
A |
7: 23,118,219 (GRCm39) |
V648M |
possibly damaging |
Het |
| Nvl |
G |
T |
1: 180,924,722 (GRCm39) |
Q811K |
probably benign |
Het |
| Or13a21 |
A |
G |
7: 139,999,027 (GRCm39) |
F220L |
possibly damaging |
Het |
| Or13p3 |
C |
A |
4: 118,566,855 (GRCm39) |
H84N |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,453 (GRCm39) |
T222A |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,844 (GRCm39) |
L288Q |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,881,316 (GRCm39) |
Y224C |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,334,657 (GRCm39) |
Y324H |
probably benign |
Het |
| Pecam1 |
C |
A |
11: 106,586,658 (GRCm39) |
E286* |
probably null |
Het |
| Prl7d1 |
A |
T |
13: 27,893,263 (GRCm39) |
L215Q |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,319,729 (GRCm39) |
Y2514* |
probably null |
Het |
| Samd15 |
A |
G |
12: 87,247,506 (GRCm39) |
T64A |
probably benign |
Het |
| Shc4 |
T |
A |
2: 125,565,285 (GRCm39) |
S5C |
probably damaging |
Het |
| Shroom3 |
G |
A |
5: 93,067,508 (GRCm39) |
V109M |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,929,291 (GRCm39) |
I283T |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Synj2bp |
G |
A |
12: 81,548,922 (GRCm39) |
P106S |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,203,340 (GRCm39) |
S289P |
|
Het |
| Thoc1 |
T |
C |
18: 9,986,300 (GRCm39) |
V344A |
probably damaging |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,136 (GRCm39) |
L184S |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,926,936 (GRCm39) |
I537T |
probably benign |
Het |
|
| Other mutations in Rgs11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Rgs11
|
APN |
17 |
26,426,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01617:Rgs11
|
APN |
17 |
26,427,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02150:Rgs11
|
APN |
17 |
26,421,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02610:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02612:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02617:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02669:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02670:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02674:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02706:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02707:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02741:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0147:Rgs11
|
UTSW |
17 |
26,426,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0148:Rgs11
|
UTSW |
17 |
26,426,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0508:Rgs11
|
UTSW |
17 |
26,426,443 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Rgs11
|
UTSW |
17 |
26,422,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Rgs11
|
UTSW |
17 |
26,427,257 (GRCm39) |
splice site |
probably null |
|
|
R1599:Rgs11
|
UTSW |
17 |
26,427,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Rgs11
|
UTSW |
17 |
26,429,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3692:Rgs11
|
UTSW |
17 |
26,423,302 (GRCm39) |
unclassified |
probably benign |
|
|
R3807:Rgs11
|
UTSW |
17 |
26,422,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3889:Rgs11
|
UTSW |
17 |
26,426,561 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4689:Rgs11
|
UTSW |
17 |
26,423,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4832:Rgs11
|
UTSW |
17 |
26,426,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5052:Rgs11
|
UTSW |
17 |
26,426,947 (GRCm39) |
intron |
probably benign |
|
|
R5330:Rgs11
|
UTSW |
17 |
26,421,947 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R5331:Rgs11
|
UTSW |
17 |
26,421,947 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R5683:Rgs11
|
UTSW |
17 |
26,424,155 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5879:Rgs11
|
UTSW |
17 |
26,422,437 (GRCm39) |
unclassified |
probably benign |
|
|
R6156:Rgs11
|
UTSW |
17 |
26,429,439 (GRCm39) |
nonsense |
probably null |
|
|
R6671:Rgs11
|
UTSW |
17 |
26,427,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Rgs11
|
UTSW |
17 |
26,426,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7609:Rgs11
|
UTSW |
17 |
26,426,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7820:Rgs11
|
UTSW |
17 |
26,424,169 (GRCm39) |
splice site |
probably null |
|
|
R8025:Rgs11
|
UTSW |
17 |
26,423,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8755:Rgs11
|
UTSW |
17 |
26,422,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8856:Rgs11
|
UTSW |
17 |
26,423,484 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8977:Rgs11
|
UTSW |
17 |
26,427,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Rgs11
|
UTSW |
17 |
26,427,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rgs11
|
UTSW |
17 |
26,424,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTAGATCGAGTGCTTCAGG -3'
(R):5'- GCTCAACGCGGAGTTTTGTG -3'
Sequencing Primer
(F):5'- TGCTTCAGGAAGGCACTG -3'
(R):5'- TTTGTGGGGGCAGCCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation