Incidental Mutation 'R1479:Rgs11'
| ID |
164241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs11
|
| Ensembl Gene |
ENSMUSG00000024186 |
| Gene Name |
regulator of G-protein signaling 11 |
| Synonyms |
|
| MMRRC Submission |
039532-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R1479 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4430 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 26427257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025020]
[ENSMUST00000114988]
[ENSMUST00000118487]
[ENSMUST00000122058]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025020
AA Change: I396T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: I396T
| 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 null
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 |
probably null
Transcript: ENSMUST00000118487
|
| SMART Domains |
Protein: ENSMUSP00000113418
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 |
probably damaging
Transcript: ENSMUST00000122058
AA Change: I394T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: I394T
| 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: ENSMUST00000155072
|
| 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: ENSMUST00000152299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
| Meta Mutation Damage Score |
0.8619 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
96% (81/84) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
T |
A |
9: 50,652,601 (GRCm39) |
T58S |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,608 (GRCm39) |
V252A |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,044,874 (GRCm39) |
D344G |
probably damaging |
Het |
| Atg14 |
A |
T |
14: 47,784,696 (GRCm39) |
|
probably null |
Het |
| Bcr |
G |
T |
10: 74,896,957 (GRCm39) |
E34* |
probably null |
Het |
| Birc6 |
C |
T |
17: 74,941,848 (GRCm39) |
T2728M |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,201,059 (GRCm39) |
N326K |
probably benign |
Het |
| Brme1 |
C |
A |
8: 84,889,026 (GRCm39) |
T123K |
possibly damaging |
Het |
| Ccdc188 |
A |
C |
16: 18,037,154 (GRCm39) |
T242P |
possibly damaging |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cdin1 |
T |
A |
2: 115,469,494 (GRCm39) |
N74K |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,541,985 (GRCm39) |
E374D |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,621,229 (GRCm39) |
V615E |
probably damaging |
Het |
| Clcnka |
C |
A |
4: 141,116,758 (GRCm39) |
A498S |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,282 (GRCm39) |
C1450R |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,673 (GRCm39) |
D101E |
probably damaging |
Het |
| Cyp27b1 |
G |
A |
10: 126,887,580 (GRCm39) |
|
probably null |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,137 (GRCm39) |
S404P |
probably damaging |
Het |
| Dclk3 |
G |
A |
9: 111,297,614 (GRCm39) |
S386N |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,854,953 (GRCm39) |
D1953N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,303,596 (GRCm39) |
|
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,711,314 (GRCm39) |
N241D |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,279 (GRCm39) |
F312S |
probably damaging |
Het |
| Esp34 |
T |
A |
17: 38,865,219 (GRCm39) |
|
probably benign |
Het |
| Foxd2 |
T |
A |
4: 114,765,115 (GRCm39) |
T302S |
unknown |
Het |
| Fzd6 |
A |
T |
15: 38,894,394 (GRCm39) |
N187Y |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,241,930 (GRCm39) |
|
probably benign |
Het |
| Gna14 |
T |
C |
19: 16,511,133 (GRCm39) |
S61P |
possibly damaging |
Het |
| Grap |
A |
T |
11: 61,551,124 (GRCm39) |
Y52F |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
| Hax1 |
C |
A |
3: 89,903,164 (GRCm39) |
E212D |
probably damaging |
Het |
| Hecw1 |
A |
C |
13: 14,491,077 (GRCm39) |
S638R |
probably benign |
Het |
| Hira |
A |
T |
16: 18,715,219 (GRCm39) |
K39M |
probably damaging |
Het |
| Hoxa2 |
T |
A |
6: 52,140,320 (GRCm39) |
D222V |
probably damaging |
Het |
| Hycc2 |
T |
A |
1: 58,591,427 (GRCm39) |
R91* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,191 (GRCm39) |
V658M |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,233,242 (GRCm39) |
S762T |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,669,024 (GRCm39) |
C267S |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,481,058 (GRCm39) |
N250S |
probably benign |
Het |
| Lbp |
T |
C |
2: 158,161,634 (GRCm39) |
L232S |
probably damaging |
Het |
| Lcn9 |
A |
T |
2: 25,713,715 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
A |
G |
11: 34,025,068 (GRCm39) |
H213R |
probably benign |
Het |
| Lrrc9 |
A |
T |
12: 72,507,599 (GRCm39) |
K367* |
probably null |
Het |
| Lyst |
A |
G |
13: 13,809,067 (GRCm39) |
I246V |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mst1r |
T |
C |
9: 107,790,544 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,733,020 (GRCm39) |
E909G |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,379,773 (GRCm39) |
D1006E |
probably benign |
Het |
| Or4k5 |
C |
A |
14: 50,386,245 (GRCm39) |
V29F |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,630 (GRCm39) |
F217L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,058 (GRCm39) |
I29F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,945,402 (GRCm39) |
I2220V |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,652,052 (GRCm39) |
I99N |
probably damaging |
Het |
| Pi4ka |
C |
T |
16: 17,191,264 (GRCm39) |
G211D |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,814,883 (GRCm39) |
S614G |
probably benign |
Het |
| Prdx6 |
G |
A |
1: 161,071,833 (GRCm39) |
A111V |
probably damaging |
Het |
| Prorp |
T |
A |
12: 55,426,172 (GRCm39) |
D138E |
probably damaging |
Het |
| Prss51 |
G |
A |
14: 64,333,619 (GRCm39) |
|
probably null |
Het |
| Psmd6 |
C |
T |
14: 14,116,819 (GRCm38) |
|
probably benign |
Het |
| Pten |
T |
A |
19: 32,797,250 (GRCm39) |
L345Q |
probably damaging |
Het |
| Qrich2 |
T |
G |
11: 116,332,311 (GRCm39) |
H2295P |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,163,018 (GRCm39) |
E408G |
probably damaging |
Het |
| Septin4 |
G |
T |
11: 87,458,244 (GRCm39) |
R206L |
probably damaging |
Het |
| Slc38a7 |
T |
C |
8: 96,575,122 (GRCm39) |
T53A |
probably benign |
Het |
| Spata31g1 |
A |
C |
4: 42,972,543 (GRCm39) |
K625N |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,909 (GRCm39) |
C1957R |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,153,019 (GRCm39) |
Y123C |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,771,233 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
C |
A |
9: 119,786,013 (GRCm39) |
D670E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,574,855 (GRCm39) |
V25346A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,153,151 (GRCm39) |
T2070A |
possibly damaging |
Het |
| Vmn2r57 |
C |
A |
7: 41,077,254 (GRCm39) |
W304L |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,727,478 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
A |
G |
15: 76,795,403 (GRCm39) |
V419A |
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 |
|
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 |
|
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'- TGTCCTTAGCGGAAAACCTCAGC -3'
(R):5'- ACAGAGGCAATACCCACTCCTGATG -3'
Sequencing Primer
(F):5'- CCACCTTGGTGGACTCTGTG -3'
(R):5'- TCCTGATGGAGCCAAACG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation