Incidental Mutation 'R7820:Rgs11'
ID |
628754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs11
|
Ensembl Gene |
ENSMUSG00000024186 |
Gene Name |
regulator of G-protein signaling 11 |
Synonyms |
|
MMRRC Submission |
045874-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
R7820 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 26424169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000025020]
[ENSMUST00000121959]
[ENSMUST00000122058]
[ENSMUST00000176961]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025019
|
SMART Domains |
Protein: ENSMUSP00000025019 Gene: ENSMUSG00000073433
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
Pfam:Rho_GDI
|
29 |
222 |
1.2e-60 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000025020
|
SMART Domains |
Protein: ENSMUSP00000025020 Gene: ENSMUSG00000024186
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: ENSMUST00000121959
|
SMART Domains |
Protein: ENSMUSP00000113186 Gene: ENSMUSG00000073433
Domain | Start | End | E-Value | Type |
Pfam:Rho_GDI
|
14 |
197 |
6.4e-65 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122058
|
SMART Domains |
Protein: ENSMUSP00000113885 Gene: ENSMUSG00000024186
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176961
|
SMART Domains |
Protein: ENSMUSP00000135717 Gene: ENSMUSG00000073433
Domain | Start | End | E-Value | Type |
Pfam:Rho_GDI
|
14 |
222 |
1.9e-83 |
PFAM |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (49/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
T |
A |
7: 50,249,371 (GRCm39) |
I135N |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,811,944 (GRCm39) |
N175I |
probably benign |
Het |
Adam12 |
A |
G |
7: 133,599,917 (GRCm39) |
V99A |
probably benign |
Het |
Ankfn1 |
G |
T |
11: 89,311,956 (GRCm39) |
P730T |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,867,983 (GRCm39) |
S847P |
probably damaging |
Het |
Cacna1i |
C |
T |
15: 80,256,573 (GRCm39) |
A989V |
probably benign |
Het |
Cacnb2 |
T |
A |
2: 14,965,477 (GRCm39) |
N152K |
probably damaging |
Het |
Cemip2 |
C |
T |
19: 21,784,825 (GRCm39) |
A436V |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,244,064 (GRCm39) |
Y1334N |
probably damaging |
Het |
Cimap1a |
A |
C |
7: 140,429,176 (GRCm39) |
T128P |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,666,432 (GRCm39) |
D473E |
probably damaging |
Het |
Crhr2 |
A |
C |
6: 55,079,764 (GRCm39) |
I191S |
probably damaging |
Het |
Eef1akmt3 |
T |
C |
10: 126,869,063 (GRCm39) |
Q137R |
possibly damaging |
Het |
Eml1 |
T |
C |
12: 108,481,433 (GRCm39) |
I432T |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,819,784 (GRCm39) |
T2504A |
probably benign |
Het |
Hmgxb4 |
G |
T |
8: 75,727,574 (GRCm39) |
E186* |
probably null |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,468,100 (GRCm39) |
V61A |
probably benign |
Het |
Map1b |
C |
T |
13: 99,567,685 (GRCm39) |
G1679R |
unknown |
Het |
Mast4 |
G |
A |
13: 102,890,596 (GRCm39) |
S1086L |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,682,692 (GRCm39) |
E724G |
possibly damaging |
Het |
Mfap5 |
C |
A |
6: 122,497,880 (GRCm39) |
D51E |
probably damaging |
Het |
Mon1a |
T |
C |
9: 107,778,511 (GRCm39) |
L245P |
probably damaging |
Het |
Mtx1 |
G |
T |
3: 89,121,315 (GRCm39) |
H106Q |
probably benign |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Ngp |
A |
G |
9: 110,249,932 (GRCm39) |
T77A |
probably benign |
Het |
Oca2 |
A |
T |
7: 55,981,713 (GRCm39) |
I612F |
probably damaging |
Het |
Or11a4 |
A |
T |
17: 37,536,786 (GRCm39) |
M257L |
probably benign |
Het |
Or4c119 |
T |
A |
2: 88,986,592 (GRCm39) |
D309V |
probably benign |
Het |
Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
Otop3 |
T |
A |
11: 115,230,414 (GRCm39) |
V97D |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,893,837 (GRCm39) |
|
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,836,715 (GRCm39) |
F18I |
probably benign |
Het |
Plppr4 |
A |
G |
3: 117,115,598 (GRCm39) |
I753T |
possibly damaging |
Het |
Pms2 |
T |
G |
5: 143,851,451 (GRCm39) |
S123A |
possibly damaging |
Het |
Pou4f2 |
T |
A |
8: 79,163,131 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,670,875 (GRCm39) |
L885Q |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Samd3 |
T |
A |
10: 26,109,416 (GRCm39) |
|
probably null |
Het |
Slit3 |
A |
G |
11: 35,591,235 (GRCm39) |
D1349G |
probably benign |
Het |
Sorbs2 |
A |
T |
8: 46,249,593 (GRCm39) |
Q868L |
probably null |
Het |
Speer4f1 |
T |
A |
5: 17,684,528 (GRCm39) |
S185R |
probably damaging |
Het |
Spin2f |
A |
G |
X: 30,905,635 (GRCm39) |
K28R |
probably benign |
Het |
Tas2r125 |
T |
G |
6: 132,886,841 (GRCm39) |
I76M |
probably benign |
Het |
Tex15 |
A |
T |
8: 34,065,090 (GRCm39) |
I1507F |
probably damaging |
Het |
Vmn1r215 |
A |
T |
13: 23,260,715 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn1r71 |
A |
G |
7: 10,482,652 (GRCm39) |
F12S |
possibly damaging |
Het |
Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
Zfp764l1 |
A |
T |
7: 126,990,608 (GRCm39) |
W460R |
possibly damaging |
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 |
R7795:Rgs11
|
UTSW |
17 |
26,426,552 (GRCm39) |
missense |
possibly damaging |
0.88 |
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'- TGGGACCAAGAACATGACGTC -3'
(R):5'- TCCCTTAGACAGAGTTAACCTGG -3'
Sequencing Primer
(F):5'- ATGACGTCACAGGTTCCACTG -3'
(R):5'- AGACAGAGTTAACCTGGCTTGTTC -3'
|
Posted On |
2020-06-19 |