Incidental Mutation 'R1300:Rgs22'
ID |
158329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs22
|
Ensembl Gene |
ENSMUSG00000037627 |
Gene Name |
regulator of G-protein signalling 22 |
Synonyms |
|
MMRRC Submission |
039366-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1300 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36101908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 106
(H106L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
AlphaFold |
G3UYX5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172831
AA Change: H230L
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000134259 Gene: ENSMUSG00000037627 AA Change: H230L
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
low complexity region
|
62 |
76 |
N/A |
INTRINSIC |
low complexity region
|
173 |
179 |
N/A |
INTRINSIC |
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
RGS
|
845 |
973 |
3.15e-2 |
SMART |
RGS
|
1014 |
1134 |
1.56e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174881
AA Change: H106L
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134185 Gene: ENSMUSG00000037627 AA Change: H106L
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
RGS
|
721 |
849 |
3.15e-2 |
SMART |
RGS
|
890 |
1010 |
1.56e-15 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,283,967 (GRCm39) |
I2535T |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,881 (GRCm39) |
Y114* |
probably null |
Het |
Ank3 |
A |
G |
10: 69,840,495 (GRCm39) |
I952V |
probably benign |
Het |
Ankar |
A |
C |
1: 72,682,323 (GRCm39) |
V1414G |
probably benign |
Het |
Arl2 |
A |
G |
19: 6,191,103 (GRCm39) |
M10T |
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,972,442 (GRCm39) |
I352T |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,274,419 (GRCm39) |
H2162L |
probably benign |
Het |
Cep170b |
A |
C |
12: 112,703,691 (GRCm39) |
M622L |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,119,552 (GRCm39) |
V337A |
probably benign |
Het |
Cpn2 |
T |
A |
16: 30,078,481 (GRCm39) |
T407S |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,870,333 (GRCm39) |
W263R |
probably damaging |
Het |
Crtc1 |
A |
G |
8: 70,840,189 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
C |
13: 113,502,694 (GRCm39) |
F133S |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,518,614 (GRCm39) |
I485N |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,101,692 (GRCm39) |
Q1892R |
probably benign |
Het |
Dse |
G |
A |
10: 34,028,411 (GRCm39) |
A893V |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,465,206 (GRCm39) |
S466A |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,377,651 (GRCm39) |
V419A |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,294,464 (GRCm39) |
V1125A |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,821,426 (GRCm39) |
G2576C |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,145,746 (GRCm39) |
D162E |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,959,454 (GRCm39) |
T165N |
probably benign |
Het |
Gm8674 |
T |
C |
13: 50,055,758 (GRCm39) |
|
noncoding transcript |
Het |
Gtsf2 |
T |
A |
15: 103,352,780 (GRCm39) |
L39F |
possibly damaging |
Het |
Hck |
A |
C |
2: 152,976,067 (GRCm39) |
D202A |
possibly damaging |
Het |
Il12b |
T |
A |
11: 44,298,903 (GRCm39) |
|
probably null |
Het |
Irf4 |
T |
C |
13: 30,941,568 (GRCm39) |
L307P |
probably damaging |
Het |
Keg1 |
G |
A |
19: 12,696,368 (GRCm39) |
R184Q |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,610,452 (GRCm39) |
D218G |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,029 (GRCm39) |
K1231E |
unknown |
Het |
Mapkbp1 |
T |
C |
2: 119,844,136 (GRCm39) |
Y293H |
probably benign |
Het |
Mfsd8 |
A |
T |
3: 40,778,333 (GRCm39) |
D310E |
probably benign |
Het |
Mmp9 |
A |
T |
2: 164,790,876 (GRCm39) |
D88V |
probably damaging |
Het |
Muc5ac |
G |
T |
7: 141,370,666 (GRCm39) |
C2522F |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,209,065 (GRCm39) |
I110F |
probably damaging |
Het |
Neu1 |
A |
T |
17: 35,153,314 (GRCm39) |
Y279F |
possibly damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,209 (GRCm39) |
H50R |
probably benign |
Het |
Nlrp3 |
C |
T |
11: 59,446,594 (GRCm39) |
S780F |
possibly damaging |
Het |
Npc1l1 |
T |
G |
11: 6,177,859 (GRCm39) |
D517A |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,114,951 (GRCm39) |
F111L |
probably benign |
Het |
Or1e32 |
T |
C |
11: 73,705,072 (GRCm39) |
T279A |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,667 (GRCm39) |
Y36C |
probably damaging |
Het |
Or52e3 |
G |
A |
7: 102,869,324 (GRCm39) |
R133Q |
probably benign |
Het |
P3h2 |
C |
A |
16: 25,815,986 (GRCm39) |
E176* |
probably null |
Het |
Parp10 |
C |
A |
15: 76,126,190 (GRCm39) |
D333Y |
possibly damaging |
Het |
Pcdhb12 |
C |
T |
18: 37,570,450 (GRCm39) |
A532V |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,159,611 (GRCm39) |
T818S |
possibly damaging |
Het |
Phf11 |
A |
T |
14: 59,488,563 (GRCm39) |
V78D |
probably damaging |
Het |
Phip |
A |
T |
9: 82,758,800 (GRCm39) |
L1450Q |
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,156,859 (GRCm39) |
E262G |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,706,014 (GRCm39) |
E19G |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,493,272 (GRCm39) |
I921T |
probably damaging |
Het |
Slc10a6 |
T |
C |
5: 103,754,550 (GRCm39) |
D327G |
probably benign |
Het |
Syt1 |
A |
T |
10: 108,467,682 (GRCm39) |
V205D |
possibly damaging |
Het |
Tep1 |
C |
T |
14: 51,064,512 (GRCm39) |
|
probably null |
Het |
Thnsl2 |
T |
A |
6: 71,111,175 (GRCm39) |
Q231L |
probably damaging |
Het |
Ttc4 |
T |
A |
4: 106,524,763 (GRCm39) |
H304L |
probably damaging |
Het |
Unc5c |
G |
A |
3: 141,534,304 (GRCm39) |
V923M |
possibly damaging |
Het |
Zfp777 |
T |
C |
6: 48,002,704 (GRCm39) |
E506G |
probably benign |
Het |
|
Other mutations in Rgs22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Rgs22
|
APN |
15 |
36,100,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00594:Rgs22
|
APN |
15 |
36,083,777 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01464:Rgs22
|
APN |
15 |
36,083,787 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01686:Rgs22
|
APN |
15 |
36,103,981 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01761:Rgs22
|
APN |
15 |
36,103,897 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02045:Rgs22
|
APN |
15 |
36,013,300 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02378:Rgs22
|
APN |
15 |
36,103,951 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02490:Rgs22
|
APN |
15 |
36,054,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03219:Rgs22
|
APN |
15 |
36,107,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03229:Rgs22
|
APN |
15 |
36,015,925 (GRCm39) |
splice site |
probably benign |
|
IGL03328:Rgs22
|
APN |
15 |
36,043,350 (GRCm39) |
critical splice donor site |
probably null |
|
3-1:Rgs22
|
UTSW |
15 |
36,100,182 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0254:Rgs22
|
UTSW |
15 |
36,104,698 (GRCm39) |
missense |
probably damaging |
0.99 |
R0463:Rgs22
|
UTSW |
15 |
36,093,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R0467:Rgs22
|
UTSW |
15 |
36,099,941 (GRCm39) |
nonsense |
probably null |
|
R0486:Rgs22
|
UTSW |
15 |
36,093,028 (GRCm39) |
missense |
probably damaging |
0.98 |
R0554:Rgs22
|
UTSW |
15 |
36,054,855 (GRCm39) |
missense |
probably benign |
0.10 |
R0602:Rgs22
|
UTSW |
15 |
36,140,018 (GRCm39) |
splice site |
probably benign |
|
R0906:Rgs22
|
UTSW |
15 |
36,104,048 (GRCm39) |
intron |
probably benign |
|
R1159:Rgs22
|
UTSW |
15 |
36,040,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Rgs22
|
UTSW |
15 |
36,025,939 (GRCm39) |
splice site |
probably benign |
|
R1491:Rgs22
|
UTSW |
15 |
36,093,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R1502:Rgs22
|
UTSW |
15 |
36,080,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Rgs22
|
UTSW |
15 |
36,013,246 (GRCm39) |
missense |
probably benign |
0.00 |
R1538:Rgs22
|
UTSW |
15 |
36,048,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Rgs22
|
UTSW |
15 |
36,087,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Rgs22
|
UTSW |
15 |
36,101,950 (GRCm39) |
missense |
probably benign |
0.00 |
R1972:Rgs22
|
UTSW |
15 |
36,103,982 (GRCm39) |
missense |
probably benign |
0.01 |
R2109:Rgs22
|
UTSW |
15 |
36,099,880 (GRCm39) |
nonsense |
probably null |
|
R2208:Rgs22
|
UTSW |
15 |
36,050,378 (GRCm39) |
missense |
probably benign |
0.01 |
R3696:Rgs22
|
UTSW |
15 |
36,100,038 (GRCm39) |
missense |
probably benign |
0.00 |
R3697:Rgs22
|
UTSW |
15 |
36,100,038 (GRCm39) |
missense |
probably benign |
0.00 |
R3698:Rgs22
|
UTSW |
15 |
36,100,038 (GRCm39) |
missense |
probably benign |
0.00 |
R3879:Rgs22
|
UTSW |
15 |
36,107,051 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4080:Rgs22
|
UTSW |
15 |
36,107,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R4363:Rgs22
|
UTSW |
15 |
36,104,020 (GRCm39) |
missense |
probably damaging |
0.99 |
R4591:Rgs22
|
UTSW |
15 |
36,100,282 (GRCm39) |
missense |
probably benign |
0.01 |
R4673:Rgs22
|
UTSW |
15 |
36,100,079 (GRCm39) |
missense |
probably benign |
0.04 |
R4829:Rgs22
|
UTSW |
15 |
36,104,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Rgs22
|
UTSW |
15 |
36,050,294 (GRCm39) |
missense |
probably benign |
0.00 |
R4865:Rgs22
|
UTSW |
15 |
36,100,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R4907:Rgs22
|
UTSW |
15 |
36,087,570 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4944:Rgs22
|
UTSW |
15 |
36,026,088 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4975:Rgs22
|
UTSW |
15 |
36,055,022 (GRCm39) |
nonsense |
probably null |
|
R5056:Rgs22
|
UTSW |
15 |
36,050,391 (GRCm39) |
splice site |
probably null |
|
R5126:Rgs22
|
UTSW |
15 |
36,040,790 (GRCm39) |
missense |
probably damaging |
0.96 |
R5138:Rgs22
|
UTSW |
15 |
36,099,934 (GRCm39) |
missense |
probably benign |
0.04 |
R5444:Rgs22
|
UTSW |
15 |
36,015,773 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5507:Rgs22
|
UTSW |
15 |
36,099,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R5640:Rgs22
|
UTSW |
15 |
36,107,101 (GRCm39) |
missense |
probably benign |
0.00 |
R5969:Rgs22
|
UTSW |
15 |
36,015,782 (GRCm39) |
missense |
probably benign |
0.00 |
R6005:Rgs22
|
UTSW |
15 |
36,010,713 (GRCm39) |
missense |
probably benign |
0.39 |
R6053:Rgs22
|
UTSW |
15 |
36,100,153 (GRCm39) |
missense |
probably benign |
0.04 |
R6134:Rgs22
|
UTSW |
15 |
36,107,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6230:Rgs22
|
UTSW |
15 |
36,100,176 (GRCm39) |
missense |
probably benign |
0.02 |
R6295:Rgs22
|
UTSW |
15 |
36,087,520 (GRCm39) |
missense |
probably benign |
0.00 |
R6352:Rgs22
|
UTSW |
15 |
36,093,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R6809:Rgs22
|
UTSW |
15 |
36,048,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R6900:Rgs22
|
UTSW |
15 |
36,010,893 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6947:Rgs22
|
UTSW |
15 |
36,104,036 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7102:Rgs22
|
UTSW |
15 |
36,122,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Rgs22
|
UTSW |
15 |
36,103,954 (GRCm39) |
missense |
probably damaging |
0.97 |
R7263:Rgs22
|
UTSW |
15 |
36,015,789 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7623:Rgs22
|
UTSW |
15 |
36,040,856 (GRCm39) |
missense |
probably benign |
0.08 |
R7732:Rgs22
|
UTSW |
15 |
36,026,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Rgs22
|
UTSW |
15 |
36,122,415 (GRCm39) |
critical splice donor site |
probably null |
|
R7771:Rgs22
|
UTSW |
15 |
36,050,224 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7835:Rgs22
|
UTSW |
15 |
36,082,057 (GRCm39) |
critical splice donor site |
probably null |
|
R7849:Rgs22
|
UTSW |
15 |
36,099,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7954:Rgs22
|
UTSW |
15 |
36,082,148 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8384:Rgs22
|
UTSW |
15 |
36,046,158 (GRCm39) |
critical splice donor site |
probably null |
|
R8516:Rgs22
|
UTSW |
15 |
36,010,481 (GRCm39) |
makesense |
probably null |
|
R8904:Rgs22
|
UTSW |
15 |
36,026,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R8923:Rgs22
|
UTSW |
15 |
36,093,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Rgs22
|
UTSW |
15 |
36,098,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Rgs22
|
UTSW |
15 |
36,087,544 (GRCm39) |
missense |
probably benign |
|
R9660:Rgs22
|
UTSW |
15 |
36,040,856 (GRCm39) |
missense |
probably benign |
0.08 |
R9679:Rgs22
|
UTSW |
15 |
36,087,587 (GRCm39) |
missense |
probably benign |
0.00 |
R9728:Rgs22
|
UTSW |
15 |
36,040,856 (GRCm39) |
missense |
probably benign |
0.08 |
RF035:Rgs22
|
UTSW |
15 |
36,010,981 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF043:Rgs22
|
UTSW |
15 |
36,010,982 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTACACACAGTAACCCTGTTTCAGACAA -3'
(R):5'- CGCTGACAACTGGAGAAAGGAGACAT -3'
Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- agaagagttggagttagagatgg -3'
|
Posted On |
2014-02-18 |