Incidental Mutation 'R5480:Rgs12'
| ID |
434252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs12
|
| Ensembl Gene |
ENSMUSG00000029101 |
| Gene Name |
regulator of G-protein signaling 12 |
| Synonyms |
4632412M04Rik, 1200016K18Rik |
| MMRRC Submission |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35106789-35196988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 35123455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 413
(Q413E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030984]
[ENSMUST00000087684]
|
| AlphaFold |
Q8CGE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030984
AA Change: Q413E
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: Q413E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
98 |
5.25e-18 |
SMART |
|
PTB
|
224 |
373 |
5.05e-28 |
SMART |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
RGS
|
715 |
832 |
2.84e-41 |
SMART |
|
low complexity region
|
849 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
928 |
N/A |
INTRINSIC |
|
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
|
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
|
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
|
low complexity region
|
1259 |
1280 |
N/A |
INTRINSIC |
|
low complexity region
|
1292 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087684
AA Change: Q413E
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: Q413E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
98 |
5.25e-18 |
SMART |
|
PTB
|
224 |
373 |
5.05e-28 |
SMART |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
RGS
|
715 |
832 |
2.84e-41 |
SMART |
|
Pfam:RGS12_us1
|
836 |
953 |
4.3e-61 |
PFAM |
|
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
|
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
|
Pfam:RGS12_us2
|
1106 |
1180 |
2.4e-37 |
PFAM |
|
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
|
Pfam:RGS12_usC
|
1238 |
1379 |
9.2e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128161
|
| Meta Mutation Damage Score |
0.0747 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
|
| Other mutations in Rgs12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Rgs12
|
APN |
5 |
35,132,563 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02296:Rgs12
|
APN |
5 |
35,123,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02337:Rgs12
|
APN |
5 |
35,177,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Rgs12
|
APN |
5 |
35,187,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Rgs12
|
APN |
5 |
35,183,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02989:Rgs12
|
APN |
5 |
35,122,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Rgs12
|
UTSW |
5 |
35,180,120 (GRCm39) |
unclassified |
probably benign |
|
|
R0015:Rgs12
|
UTSW |
5 |
35,180,120 (GRCm39) |
unclassified |
probably benign |
|
|
R0046:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Rgs12
|
UTSW |
5 |
35,124,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0106:Rgs12
|
UTSW |
5 |
35,124,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0233:Rgs12
|
UTSW |
5 |
35,187,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Rgs12
|
UTSW |
5 |
35,187,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Rgs12
|
UTSW |
5 |
35,187,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0611:Rgs12
|
UTSW |
5 |
35,176,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Rgs12
|
UTSW |
5 |
35,180,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0723:Rgs12
|
UTSW |
5 |
35,181,710 (GRCm39) |
unclassified |
probably benign |
|
|
R1174:Rgs12
|
UTSW |
5 |
35,123,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Rgs12
|
UTSW |
5 |
35,178,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1556:Rgs12
|
UTSW |
5 |
35,196,626 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1774:Rgs12
|
UTSW |
5 |
35,123,747 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1791:Rgs12
|
UTSW |
5 |
35,123,456 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1866:Rgs12
|
UTSW |
5 |
35,123,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Rgs12
|
UTSW |
5 |
35,123,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Rgs12
|
UTSW |
5 |
35,189,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Rgs12
|
UTSW |
5 |
35,187,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2107:Rgs12
|
UTSW |
5 |
35,124,079 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3730:Rgs12
|
UTSW |
5 |
35,189,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Rgs12
|
UTSW |
5 |
35,189,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Rgs12
|
UTSW |
5 |
35,189,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3827:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3829:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3830:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4392:Rgs12
|
UTSW |
5 |
35,189,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Rgs12
|
UTSW |
5 |
35,177,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Rgs12
|
UTSW |
5 |
35,147,156 (GRCm39) |
intron |
probably benign |
|
|
R5213:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Rgs12
|
UTSW |
5 |
35,178,448 (GRCm39) |
unclassified |
probably benign |
|
|
R5510:Rgs12
|
UTSW |
5 |
35,123,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Rgs12
|
UTSW |
5 |
35,123,696 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5987:Rgs12
|
UTSW |
5 |
35,177,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Rgs12
|
UTSW |
5 |
35,123,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6113:Rgs12
|
UTSW |
5 |
35,177,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6401:Rgs12
|
UTSW |
5 |
35,177,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Rgs12
|
UTSW |
5 |
35,180,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Rgs12
|
UTSW |
5 |
35,180,515 (GRCm39) |
missense |
probably null |
0.27 |
|
R6857:Rgs12
|
UTSW |
5 |
35,187,366 (GRCm39) |
nonsense |
probably null |
|
|
R7082:Rgs12
|
UTSW |
5 |
35,124,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Rgs12
|
UTSW |
5 |
35,122,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Rgs12
|
UTSW |
5 |
35,183,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7444:Rgs12
|
UTSW |
5 |
35,183,287 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7632:Rgs12
|
UTSW |
5 |
35,122,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Rgs12
|
UTSW |
5 |
35,183,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8089:Rgs12
|
UTSW |
5 |
35,177,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Rgs12
|
UTSW |
5 |
35,123,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Rgs12
|
UTSW |
5 |
35,186,915 (GRCm39) |
missense |
|
|
|
R8927:Rgs12
|
UTSW |
5 |
35,123,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8928:Rgs12
|
UTSW |
5 |
35,123,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9073:Rgs12
|
UTSW |
5 |
35,177,753 (GRCm39) |
unclassified |
probably benign |
|
|
R9211:Rgs12
|
UTSW |
5 |
35,123,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9485:Rgs12
|
UTSW |
5 |
35,189,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9550:Rgs12
|
UTSW |
5 |
35,196,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Rgs12
|
UTSW |
5 |
35,123,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rgs12
|
UTSW |
5 |
35,183,696 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Rgs12
|
UTSW |
5 |
35,122,198 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGGACCCAGACTTATTTC -3'
(R):5'- ATTCCAGGGTGCACTCCAAG -3'
Sequencing Primer
(F):5'- GGTGGACCCAGACTTATTTCATCAC -3'
(R):5'- TGCACTCCAAGGCTGTGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation