Incidental Mutation 'R5444:Rgs22'
| ID |
427360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
043009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36015773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1037
(D1037G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172831
AA Change: D1161G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: D1161G
| 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 |
unknown
Transcript: ENSMUST00000173018
AA Change: D150G
|
| SMART Domains |
Protein: ENSMUSP00000133703
Gene: ENSMUSG00000037627
AA Change: D150G
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
4 |
124 |
1.56e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174881
AA Change: D1037G
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: D1037G
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
G |
5: 26,684,735 (GRCm39) |
|
noncoding transcript |
Het |
| Adam11 |
A |
G |
11: 102,663,674 (GRCm39) |
Q284R |
probably damaging |
Het |
| Adamts17 |
T |
A |
7: 66,691,647 (GRCm39) |
H610Q |
probably benign |
Het |
| Alg6 |
A |
G |
4: 99,629,816 (GRCm39) |
Y131C |
probably benign |
Het |
| Apol9b |
T |
C |
15: 77,619,963 (GRCm39) |
I253T |
probably damaging |
Het |
| Asb4 |
T |
A |
6: 5,431,040 (GRCm39) |
I425N |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,615,876 (GRCm39) |
L474P |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,669,985 (GRCm39) |
T318I |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,666,199 (GRCm39) |
K22E |
possibly damaging |
Het |
| Cdk17 |
T |
G |
10: 93,053,823 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,631,499 (GRCm39) |
T438S |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,122,833 (GRCm39) |
E967G |
probably damaging |
Het |
| Cyp2d26 |
G |
T |
15: 82,676,739 (GRCm39) |
D202E |
probably benign |
Het |
| Dhdds |
G |
A |
4: 133,698,447 (GRCm39) |
R295* |
probably null |
Het |
| Eef2kmt |
G |
A |
16: 5,066,959 (GRCm39) |
|
probably benign |
Het |
| Fn3krp |
G |
A |
11: 121,312,430 (GRCm39) |
|
probably null |
Het |
| Gjc3 |
G |
A |
5: 137,955,809 (GRCm39) |
L159F |
probably damaging |
Het |
| Gm28434 |
T |
C |
5: 88,127,147 (GRCm39) |
|
probably benign |
Het |
| Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
| Irf7 |
C |
T |
7: 140,844,732 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,201,573 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
T |
1: 15,781,716 (GRCm39) |
I863F |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,348,908 (GRCm39) |
F647L |
possibly damaging |
Het |
| Mccc1 |
T |
A |
3: 36,030,891 (GRCm39) |
M392L |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,938,149 (GRCm39) |
|
probably null |
Het |
| Ncstn |
A |
C |
1: 171,900,406 (GRCm39) |
V223G |
possibly damaging |
Het |
| Neurl3 |
G |
T |
1: 36,308,571 (GRCm39) |
F80L |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,334,785 (GRCm39) |
M869T |
possibly damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,376,810 (GRCm39) |
|
probably benign |
Het |
| Nnat |
T |
C |
2: 157,403,137 (GRCm39) |
F26S |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,202,820 (GRCm39) |
Y109C |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,166,124 (GRCm39) |
D194E |
probably damaging |
Het |
| Or10ak11 |
T |
A |
4: 118,687,308 (GRCm39) |
I109L |
probably benign |
Het |
| Or3a4 |
T |
C |
11: 73,944,803 (GRCm39) |
S261G |
probably benign |
Het |
| Or52k2 |
C |
T |
7: 102,254,076 (GRCm39) |
R172* |
probably null |
Het |
| Or5b109 |
A |
T |
19: 13,212,322 (GRCm39) |
Q236L |
probably benign |
Het |
| Or9g3 |
A |
T |
2: 85,590,263 (GRCm39) |
F152L |
probably benign |
Het |
| Ostf1 |
A |
G |
19: 18,558,677 (GRCm39) |
L202S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,668,806 (GRCm39) |
M747K |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,521 (GRCm39) |
D1019G |
probably benign |
Het |
| Pnlip |
A |
G |
19: 58,661,595 (GRCm39) |
I95V |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,805,122 (GRCm39) |
T197S |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,370 (GRCm39) |
I357F |
probably damaging |
Het |
| Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
| Relch |
C |
T |
1: 105,654,109 (GRCm39) |
T826I |
possibly damaging |
Het |
| Rnf215 |
A |
G |
11: 4,085,843 (GRCm39) |
I107M |
probably benign |
Het |
| Rybp |
A |
T |
6: 100,264,231 (GRCm39) |
M3K |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,379,590 (GRCm39) |
S1081G |
possibly damaging |
Het |
| Slfn10-ps |
C |
T |
11: 82,926,113 (GRCm39) |
|
noncoding transcript |
Het |
| Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
| Sult2a1 |
A |
T |
7: 13,569,944 (GRCm39) |
I96K |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Thbs3 |
T |
C |
3: 89,130,692 (GRCm39) |
|
probably benign |
Het |
| Tmub2 |
T |
C |
11: 102,179,066 (GRCm39) |
L255S |
possibly damaging |
Het |
| Trank1 |
T |
A |
9: 111,222,026 (GRCm39) |
L2921Q |
probably benign |
Het |
| Trappc14 |
A |
T |
5: 138,259,260 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
A |
T |
6: 121,203,060 (GRCm39) |
|
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,451 (GRCm39) |
I469V |
probably benign |
Het |
| Zfp1007 |
A |
T |
5: 109,823,502 (GRCm39) |
Y649* |
probably null |
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 |
|
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 |
|
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'- ATTCAGAACAGCCGGGTTGC -3'
(R):5'- TCTCAGACAAGGTGTGGGAG -3'
Sequencing Primer
(F):5'- CTGTGAAGGAAGGCTTTGCAGTTAC -3'
(R):5'- AGAGAAGCTAATCCTCTATTGTGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation