Incidental Mutation 'R8241:Rgs12'
ID |
637546 |
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: 0.247)
|
Stock # |
R8241 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
35106789-35196988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35123117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 300
(F300S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030984]
[ENSMUST00000087684]
|
AlphaFold |
Q8CGE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030984
AA Change: F300S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030984 Gene: ENSMUSG00000029101 AA Change: F300S
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 damaging
Transcript: ENSMUST00000087684
AA Change: F300S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000084970 Gene: ENSMUSG00000029101 AA Change: F300S
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 98.1%
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,079,456 (GRCm39) |
R1233G |
probably null |
Het |
Acacb |
A |
T |
5: 114,333,297 (GRCm39) |
I474F |
possibly damaging |
Het |
Adora1 |
A |
T |
1: 134,131,062 (GRCm39) |
V203D |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,290,998 (GRCm39) |
S653G |
probably benign |
Het |
Agtr1a |
T |
C |
13: 30,565,082 (GRCm39) |
V49A |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,984,659 (GRCm39) |
V1981A |
probably benign |
Het |
Arhgap5 |
T |
G |
12: 52,565,098 (GRCm39) |
Y690D |
probably benign |
Het |
Bbs9 |
A |
G |
9: 22,590,214 (GRCm39) |
I651V |
probably benign |
Het |
Brms1 |
C |
T |
19: 5,096,007 (GRCm39) |
A27V |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,168,282 (GRCm39) |
V256A |
probably benign |
Het |
Capg |
G |
T |
6: 72,533,236 (GRCm39) |
|
probably null |
Het |
Chpt1 |
T |
C |
10: 88,288,953 (GRCm39) |
K154E |
|
Het |
Cyp1b1 |
T |
C |
17: 80,021,223 (GRCm39) |
E173G |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbxw27 |
T |
G |
9: 109,602,283 (GRCm39) |
N230T |
possibly damaging |
Het |
Fer1l4 |
T |
C |
2: 155,891,585 (GRCm39) |
T126A |
probably benign |
Het |
Fut10 |
C |
A |
8: 31,750,034 (GRCm39) |
S440* |
probably null |
Het |
Gbf1 |
T |
C |
19: 46,234,576 (GRCm39) |
V71A |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,378,347 (GRCm39) |
E201G |
unknown |
Het |
Hic2 |
A |
G |
16: 17,076,950 (GRCm39) |
Y593C |
probably damaging |
Het |
Hlcs |
A |
T |
16: 94,068,677 (GRCm39) |
V181E |
probably damaging |
Het |
Itpr2 |
A |
T |
6: 146,320,013 (GRCm39) |
I176N |
possibly damaging |
Het |
Kcna2 |
G |
T |
3: 107,012,338 (GRCm39) |
K306N |
probably damaging |
Het |
Kcnb1 |
A |
G |
2: 166,948,117 (GRCm39) |
Y244H |
probably damaging |
Het |
Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
Mapk14 |
T |
A |
17: 28,934,374 (GRCm39) |
D88E |
possibly damaging |
Het |
Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
Mrpl1 |
T |
A |
5: 96,386,733 (GRCm39) |
L241I |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,372,286 (GRCm39) |
N781K |
probably benign |
Het |
Nfkb2 |
T |
A |
19: 46,296,054 (GRCm39) |
D186E |
probably benign |
Het |
Or3a1b |
G |
A |
11: 74,013,035 (GRCm39) |
V307I |
probably benign |
Het |
Plcl1 |
A |
G |
1: 55,734,976 (GRCm39) |
I106V |
probably benign |
Het |
Ppp4r2 |
A |
G |
6: 100,842,044 (GRCm39) |
I168M |
probably damaging |
Het |
Prpf4b |
A |
T |
13: 35,079,974 (GRCm39) |
K779N |
probably damaging |
Het |
Qrich1 |
T |
C |
9: 108,433,760 (GRCm39) |
|
probably null |
Het |
Sart3 |
T |
A |
5: 113,884,029 (GRCm39) |
K661M |
probably benign |
Het |
Scyl2 |
T |
C |
10: 89,489,971 (GRCm39) |
I464V |
possibly damaging |
Het |
Sema5a |
A |
G |
15: 32,575,064 (GRCm39) |
T391A |
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,025,070 (GRCm39) |
T183A |
unknown |
Het |
Sh3rf3 |
C |
T |
10: 58,940,242 (GRCm39) |
P688S |
probably benign |
Het |
Themis3 |
T |
C |
17: 66,866,962 (GRCm39) |
T93A |
probably benign |
Het |
Thsd7b |
T |
A |
1: 130,117,688 (GRCm39) |
S1402T |
probably damaging |
Het |
Ubr1 |
A |
T |
2: 120,793,937 (GRCm39) |
D82E |
possibly damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,433,982 (GRCm39) |
F192S |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,301,031 (GRCm39) |
K678E |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,047 (GRCm39) |
T1826N |
|
Het |
Vps41 |
A |
G |
13: 19,033,168 (GRCm39) |
D633G |
possibly damaging |
Het |
Wdr3 |
A |
T |
3: 100,057,259 (GRCm39) |
I448N |
probably 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 |
|
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 |
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'- TTCCACCAGTTCCAACCTGG -3'
(R):5'- TTCCAAACAGCCACTCGTGTC -3'
Sequencing Primer
(F):5'- ACCTGGAGCATGACAGTTTAC -3'
(R):5'- CACTCGTGTCTGGGTCTGCAG -3'
|
Posted On |
2020-07-13 |