Incidental Mutation 'R3807:Rgs11'
ID |
274997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs11
|
Ensembl Gene |
ENSMUSG00000024186 |
Gene Name |
regulator of G-protein signaling 11 |
Synonyms |
|
MMRRC Submission |
040764-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
R3807 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26422474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 69
(I69F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000025020]
[ENSMUST00000039113]
[ENSMUST00000120333]
[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 damaging
Transcript: ENSMUST00000025020
AA Change: I69F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025020 Gene: ENSMUSG00000024186 AA Change: I69F
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: ENSMUST00000039113
|
SMART Domains |
Protein: ENSMUSP00000035584 Gene: ENSMUSG00000024184
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
46 |
153 |
1.5e-26 |
PFAM |
Pfam:Thioredoxin_6
|
182 |
369 |
3.2e-37 |
PFAM |
Pfam:Thioredoxin
|
392 |
497 |
2.4e-27 |
PFAM |
low complexity region
|
501 |
515 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120333
|
SMART Domains |
Protein: ENSMUSP00000114080 Gene: ENSMUSG00000024184
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
46 |
153 |
2.6e-27 |
PFAM |
Pfam:Thioredoxin_6
|
181 |
366 |
2e-37 |
PFAM |
Pfam:Thioredoxin
|
389 |
494 |
7.2e-28 |
PFAM |
low complexity region
|
498 |
512 |
N/A |
INTRINSIC |
|
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 damaging
Transcript: ENSMUST00000122058
AA Change: I67F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113885 Gene: ENSMUSG00000024186 AA Change: I67F
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 |
noncoding transcript
Transcript: ENSMUST00000123670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142410
|
SMART Domains |
Protein: ENSMUSP00000115267 Gene: ENSMUSG00000024184
Domain | Start | End | E-Value | Type |
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
A |
T |
8: 112,717,002 (GRCm39) |
W2R |
probably damaging |
Het |
Arhgap42 |
A |
G |
9: 9,008,034 (GRCm39) |
I563T |
probably damaging |
Het |
Armcx1 |
T |
C |
X: 133,622,014 (GRCm39) |
V372A |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Bpifb1 |
C |
A |
2: 154,055,922 (GRCm39) |
N329K |
probably benign |
Het |
Ccdc113 |
A |
T |
8: 96,269,281 (GRCm39) |
N193I |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,242,847 (GRCm39) |
L269Q |
probably damaging |
Het |
Cttn |
C |
T |
7: 143,999,588 (GRCm39) |
V290M |
probably damaging |
Het |
Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,713,819 (GRCm39) |
M1455K |
possibly damaging |
Het |
Eme1 |
A |
G |
11: 94,541,418 (GRCm39) |
W135R |
probably damaging |
Het |
Entpd7 |
T |
G |
19: 43,713,979 (GRCm39) |
|
probably null |
Het |
Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
Erich1 |
T |
C |
8: 14,083,695 (GRCm39) |
N125S |
probably benign |
Het |
Fam149a |
T |
A |
8: 45,834,647 (GRCm39) |
T51S |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,560,870 (GRCm39) |
D1212E |
probably benign |
Het |
Garin3 |
G |
A |
11: 46,295,780 (GRCm39) |
A51T |
possibly damaging |
Het |
Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
Gm11595 |
C |
T |
11: 99,663,380 (GRCm39) |
R100H |
unknown |
Het |
Gria1 |
T |
C |
11: 57,201,504 (GRCm39) |
W712R |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,857,557 (GRCm39) |
N4047D |
probably damaging |
Het |
Hoxc9 |
A |
G |
15: 102,890,116 (GRCm39) |
Y11C |
possibly damaging |
Het |
Lama2 |
GCCC |
GCC |
10: 27,066,661 (GRCm39) |
|
probably null |
Het |
Lrrc56 |
A |
G |
7: 140,789,298 (GRCm39) |
T393A |
probably benign |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Med14 |
T |
C |
X: 12,553,416 (GRCm39) |
Y463C |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,515,599 (GRCm39) |
D1734V |
probably damaging |
Het |
Nfe2l3 |
A |
T |
6: 51,434,357 (GRCm39) |
R306* |
probably null |
Het |
Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAG |
CAGAAG |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
Npr1 |
A |
T |
3: 90,366,033 (GRCm39) |
V586E |
probably damaging |
Het |
Or2d2b |
A |
G |
7: 106,705,670 (GRCm39) |
S133P |
probably benign |
Het |
Or5h24 |
A |
C |
16: 58,919,206 (GRCm39) |
*50G |
probably null |
Het |
Pcdhb4 |
T |
C |
18: 37,442,367 (GRCm39) |
F559S |
probably damaging |
Het |
Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,806,027 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,719,577 (GRCm39) |
A4277T |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 78,826,537 (GRCm39) |
V1359I |
probably benign |
Het |
Sis |
A |
T |
3: 72,832,929 (GRCm39) |
V956E |
probably benign |
Het |
Slc35f3 |
T |
A |
8: 127,115,978 (GRCm39) |
W302R |
probably damaging |
Het |
Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
Tdp2 |
C |
A |
13: 25,015,776 (GRCm39) |
S21* |
probably null |
Het |
Tfrc |
A |
T |
16: 32,435,644 (GRCm39) |
N173I |
possibly damaging |
Het |
Tmem132b |
A |
T |
5: 125,864,644 (GRCm39) |
I917F |
probably damaging |
Het |
Vbp1 |
T |
C |
X: 74,566,948 (GRCm39) |
V122A |
probably damaging |
Het |
Vmn1r225 |
G |
A |
17: 20,723,114 (GRCm39) |
W185* |
probably null |
Het |
Vmn1r70 |
A |
G |
7: 10,367,715 (GRCm39) |
T68A |
probably benign |
Het |
Zfp518a |
A |
G |
19: 40,903,241 (GRCm39) |
K1057E |
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 |
|
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 |
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'- CTGACCAAGGCGTGAAGATG -3'
(R):5'- GTAAGCTCCACCCTCCCTAAGTAG -3'
Sequencing Primer
(F):5'- CAAGGCGTGAAGATGCGGAG -3'
(R):5'- TGACCTGGAACCTGTAGGG -3'
|
Posted On |
2015-04-02 |