Incidental Mutation 'R3826:Rgs12'
| ID |
275395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs12
|
| Ensembl Gene |
ENSMUSG00000029101 |
| Gene Name |
regulator of G-protein signaling 12 |
| Synonyms |
4632412M04Rik, 1200016K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R3826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35106789-35196988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35123359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 381
(V381M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030984]
[ENSMUST00000087684]
|
| AlphaFold |
Q8CGE9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030984
AA Change: V381M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: V381M
| 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 |
possibly damaging
Transcript: ENSMUST00000087684
AA Change: V381M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: V381M
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
A |
3: 59,843,896 (GRCm39) |
S197T |
possibly damaging |
Het |
| Actl6b |
T |
C |
5: 137,565,535 (GRCm39) |
L377P |
probably damaging |
Het |
| Apc |
C |
A |
18: 34,412,388 (GRCm39) |
Q236K |
possibly damaging |
Het |
| Atn1 |
G |
A |
6: 124,723,182 (GRCm39) |
|
probably benign |
Het |
| Ccr3 |
A |
G |
9: 123,829,714 (GRCm39) |
T350A |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,960 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,972,129 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gas2 |
T |
C |
7: 51,586,367 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hgfac |
C |
A |
5: 35,205,506 (GRCm39) |
D595E |
probably damaging |
Het |
| Kcnj10 |
A |
T |
1: 172,197,616 (GRCm39) |
S377C |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,746,693 (GRCm39) |
V369I |
possibly damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,805,880 (GRCm39) |
|
probably null |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Muc21 |
A |
G |
17: 35,932,504 (GRCm39) |
|
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Or5t17 |
T |
A |
2: 86,832,388 (GRCm39) |
I25K |
probably damaging |
Het |
| Or9g4b |
C |
T |
2: 85,616,559 (GRCm39) |
R235* |
probably null |
Het |
| Panx2 |
A |
G |
15: 88,952,664 (GRCm39) |
D377G |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,545,470 (GRCm39) |
T182N |
probably damaging |
Het |
| Pdha2 |
G |
T |
3: 140,916,889 (GRCm39) |
F206L |
possibly damaging |
Het |
| Pgd |
T |
C |
4: 149,250,461 (GRCm39) |
|
probably benign |
Het |
| Pgs1 |
C |
T |
11: 117,910,584 (GRCm39) |
|
probably null |
Het |
| Rere |
T |
C |
4: 150,554,785 (GRCm39) |
V161A |
probably benign |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,269,665 (GRCm39) |
L108F |
possibly damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,185 (GRCm39) |
F65S |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,210,365 (GRCm39) |
M925V |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,975,029 (GRCm39) |
I200T |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Trio |
T |
A |
15: 27,833,156 (GRCm39) |
K75N |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,800 (GRCm39) |
N88S |
probably benign |
Het |
| Zswim8 |
C |
T |
14: 20,761,157 (GRCm39) |
R142* |
probably null |
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 |
|
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 |
|
|
R5480:Rgs12
|
UTSW |
5 |
35,123,455 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- CGAGAAGCTGGCATTCAGTG -3'
(R):5'- ACTACAAGCACCCTGTTGCTC -3'
Sequencing Primer
(F):5'- ATTCAGTGCAGTGTGCCC -3'
(R):5'- GCTCTTCTCTTCCTGGTTGAAATTG -3'
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| Posted On |
2015-04-02 |
Incidental Mutation