Incidental Mutation 'R4591:Rgs22'
| ID |
342855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4591 (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 36100282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 268
(E268D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172831
AA Change: E268D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: E268D
| 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: E144D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: E144D
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
C |
3: 68,777,599 (GRCm39) |
S187P |
possibly damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,959 (GRCm39) |
N59S |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,636 (GRCm39) |
D1030V |
probably damaging |
Het |
| Acmsd |
A |
T |
1: 127,676,934 (GRCm39) |
N153I |
probably damaging |
Het |
| Adprh |
C |
A |
16: 38,266,345 (GRCm39) |
V266L |
probably benign |
Het |
| Aldh5a1 |
G |
A |
13: 25,107,991 (GRCm39) |
P217S |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Alyref |
C |
T |
11: 120,486,799 (GRCm39) |
R154Q |
probably benign |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Aox3 |
A |
T |
1: 58,191,815 (GRCm39) |
I456F |
probably damaging |
Het |
| Art4 |
A |
G |
6: 136,831,755 (GRCm39) |
Y129H |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,167,551 (GRCm39) |
H306N |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 59,892,078 (GRCm39) |
R1090L |
probably benign |
Het |
| Brap |
G |
T |
5: 121,800,113 (GRCm39) |
V1F |
probably null |
Het |
| C1qb |
C |
A |
4: 136,609,528 (GRCm39) |
G31W |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,275,425 (GRCm39) |
Y666H |
probably benign |
Het |
| Casr |
T |
C |
16: 36,320,732 (GRCm39) |
N472S |
probably benign |
Het |
| Ccdc91 |
T |
G |
6: 147,491,963 (GRCm39) |
S282A |
unknown |
Het |
| Cd300lg |
A |
G |
11: 101,937,006 (GRCm39) |
T164A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,872 (GRCm39) |
D243E |
probably damaging |
Het |
| Cdh6 |
C |
A |
15: 13,051,572 (GRCm39) |
V354F |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,863,497 (GRCm39) |
N126S |
probably benign |
Het |
| Cep192 |
A |
T |
18: 67,968,039 (GRCm39) |
N841I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,980,012 (GRCm39) |
T963A |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,955,592 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
G |
7: 126,302,164 (GRCm39) |
V61A |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,745,983 (GRCm39) |
D1712V |
probably damaging |
Het |
| Ddn |
T |
C |
15: 98,705,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dnal1 |
T |
C |
12: 84,180,627 (GRCm39) |
F89S |
probably benign |
Het |
| Dusp3 |
T |
A |
11: 101,864,446 (GRCm39) |
|
probably benign |
Het |
| Dyrk3 |
C |
A |
1: 131,057,895 (GRCm39) |
G58C |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,279 (GRCm39) |
F2775S |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,829 (GRCm39) |
N373S |
probably benign |
Het |
| Glmn |
A |
G |
5: 107,708,917 (GRCm39) |
|
probably null |
Het |
| Gm11565 |
A |
T |
11: 99,805,769 (GRCm39) |
T54S |
possibly damaging |
Het |
| Gm14410 |
A |
G |
2: 176,885,820 (GRCm39) |
I148T |
possibly damaging |
Het |
| Gm21834 |
T |
A |
17: 58,048,880 (GRCm39) |
H112L |
possibly damaging |
Het |
| Gm5862 |
A |
G |
5: 26,224,486 (GRCm39) |
I161T |
possibly damaging |
Het |
| Grid2 |
G |
T |
6: 64,297,086 (GRCm39) |
G483V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 106,995,533 (GRCm39) |
S1293T |
probably benign |
Het |
| Il1a |
G |
A |
2: 129,148,447 (GRCm39) |
R88W |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,357,043 (GRCm39) |
V29D |
possibly damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,139 (GRCm39) |
L463F |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,005,110 (GRCm39) |
E225G |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,366,419 (GRCm39) |
F227L |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,639,227 (GRCm39) |
M419V |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,030,837 (GRCm39) |
Q1247R |
unknown |
Het |
| Mamdc4 |
T |
A |
2: 25,454,609 (GRCm39) |
M1068L |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,707,636 (GRCm39) |
S1642A |
probably damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,539,365 (GRCm39) |
E102G |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,655,506 (GRCm39) |
E819G |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,349,345 (GRCm39) |
L38P |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,048 (GRCm39) |
R542G |
probably benign |
Het |
| Or10c1 |
C |
T |
17: 37,522,010 (GRCm39) |
V245I |
probably benign |
Het |
| Or4d2b |
A |
G |
11: 87,780,375 (GRCm39) |
S116P |
probably benign |
Het |
| Or5ac19 |
A |
C |
16: 59,089,776 (GRCm39) |
F85V |
possibly damaging |
Het |
| Or5b125-ps1 |
ACAC |
ACACGCAC |
19: 13,056,266 (GRCm39) |
|
noncoding transcript |
Het |
| Pbxip1 |
T |
A |
3: 89,353,467 (GRCm39) |
L249Q |
probably benign |
Het |
| Pla2g7 |
T |
C |
17: 43,911,450 (GRCm39) |
S201P |
probably damaging |
Het |
| Psmd1 |
G |
T |
1: 86,055,926 (GRCm39) |
V763F |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,740,308 (GRCm39) |
E124G |
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
| Rbks |
T |
A |
5: 31,817,352 (GRCm39) |
K139M |
possibly damaging |
Het |
| Slc16a9 |
T |
G |
10: 70,118,710 (GRCm39) |
L343R |
probably damaging |
Het |
| Smagp |
T |
C |
15: 100,519,860 (GRCm39) |
I55V |
probably damaging |
Het |
| Sox13 |
T |
C |
1: 133,311,421 (GRCm39) |
S604G |
probably damaging |
Het |
| St6gal1 |
G |
T |
16: 23,140,044 (GRCm39) |
V72F |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,485,606 (GRCm39) |
V247A |
probably benign |
Het |
| Susd3 |
A |
T |
13: 49,384,736 (GRCm39) |
M217K |
possibly damaging |
Het |
| Tas2r129 |
T |
A |
6: 132,928,574 (GRCm39) |
N170K |
probably benign |
Het |
| Tmem245 |
C |
A |
4: 56,910,204 (GRCm39) |
A515S |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,817,791 (GRCm39) |
V259A |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,952,332 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,371,147 (GRCm39) |
R532H |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,646,916 (GRCm39) |
N529I |
possibly damaging |
Het |
| Zfp574 |
T |
C |
7: 24,778,969 (GRCm39) |
|
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 |
|
R1300:Rgs22
|
UTSW |
15 |
36,101,908 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
|
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'- ATTCCGGAGTGTCACTAAGGG -3'
(R):5'- TGTGCCGTTACTGGCTCATG -3'
Sequencing Primer
(F):5'- AGTGTCACTAAGGGACTGGCC -3'
(R):5'- ATGTCCTTATTCCCAGTGCCGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation