Incidental Mutation 'R4975:Rgs22'
| ID |
448952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
042570-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 36055022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 593
(Y593*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000172737
AA Change: Y102*
|
| SMART Domains |
Protein: ENSMUSP00000133508
Gene: ENSMUSG00000037627
AA Change: Y102*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
231 |
262 |
1e-13 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172831
AA Change: Y717*
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: Y717*
| 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 null
Transcript: ENSMUST00000174881
AA Change: Y593*
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: Y593*
| 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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.8%
|
| Validation Efficiency |
100% (81/81) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
C |
3: 59,840,161 (GRCm39) |
T78P |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,800,291 (GRCm39) |
K497R |
probably damaging |
Het |
| Aldh1a3 |
C |
T |
7: 66,068,927 (GRCm39) |
R19Q |
possibly damaging |
Het |
| Bmp2k |
A |
G |
5: 97,234,944 (GRCm39) |
|
probably benign |
Het |
| Ccni |
A |
T |
5: 93,335,553 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Cdkl4 |
C |
A |
17: 80,832,764 (GRCm39) |
G327* |
probably null |
Het |
| Cdsn |
T |
C |
17: 35,866,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,518,736 (GRCm38) |
V240A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,540 (GRCm39) |
E352G |
possibly damaging |
Het |
| Clasp2 |
T |
A |
9: 113,732,984 (GRCm39) |
I961N |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,949,752 (GRCm39) |
Q128R |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,406,525 (GRCm39) |
Q1055H |
possibly damaging |
Het |
| Cyld |
T |
G |
8: 89,433,860 (GRCm39) |
F216L |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
| Disp3 |
C |
T |
4: 148,328,673 (GRCm39) |
R1097H |
possibly damaging |
Het |
| Dmap1 |
T |
C |
4: 117,538,233 (GRCm39) |
D67G |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Ergic3 |
T |
C |
2: 155,859,638 (GRCm39) |
|
probably null |
Het |
| Fkbp14 |
A |
G |
6: 54,569,943 (GRCm39) |
I29T |
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,623 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7135 |
A |
T |
1: 97,281,801 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbar1 |
TACCAC |
TAC |
1: 74,318,704 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,424,481 (GRCm39) |
I57F |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,809,280 (GRCm39) |
V1722A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,283,037 (GRCm39) |
D1971G |
possibly damaging |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,614,244 (GRCm39) |
I398N |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,390 (GRCm39) |
S922R |
probably damaging |
Het |
| Krt27 |
G |
A |
11: 99,237,722 (GRCm39) |
Q339* |
probably null |
Het |
| Lama1 |
C |
A |
17: 68,045,829 (GRCm39) |
L245I |
possibly damaging |
Het |
| Lmo2 |
T |
A |
2: 103,806,488 (GRCm39) |
C60* |
probably null |
Het |
| Med16 |
A |
G |
10: 79,738,839 (GRCm39) |
S316P |
possibly damaging |
Het |
| Mia3 |
T |
C |
1: 183,111,970 (GRCm39) |
N529S |
probably benign |
Het |
| Msi2 |
T |
C |
11: 88,285,481 (GRCm39) |
K188E |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,209,128 (GRCm39) |
K1870R |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,167,216 (GRCm39) |
V347A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,120,167 (GRCm39) |
R487H |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,682 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4k41 |
T |
C |
2: 111,280,028 (GRCm39) |
I181T |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,828,736 (GRCm39) |
V293D |
probably damaging |
Het |
| Or5d18 |
T |
C |
2: 87,865,005 (GRCm39) |
I159M |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,087,141 (GRCm39) |
I246T |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,415 (GRCm39) |
V1708A |
probably benign |
Het |
| Ptprv |
A |
G |
1: 135,046,586 (GRCm39) |
|
noncoding transcript |
Het |
| Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,510,497 (GRCm39) |
R68G |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,277,428 (GRCm39) |
D264G |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,165,424 (GRCm39) |
S2045P |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,285,954 (GRCm39) |
D87N |
probably damaging |
Het |
| Rps6ka4 |
A |
T |
19: 6,817,678 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,082,209 (GRCm39) |
|
probably null |
Het |
| Runx3 |
A |
G |
4: 134,898,446 (GRCm39) |
T206A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,054,562 (GRCm39) |
E2158G |
probably damaging |
Het |
| Siglece |
C |
T |
7: 43,308,396 (GRCm39) |
|
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,926,599 (GRCm39) |
S576G |
probably benign |
Het |
| Snx1 |
A |
T |
9: 66,012,187 (GRCm39) |
L96* |
probably null |
Het |
| Srrm1 |
A |
G |
4: 135,074,031 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
A |
T |
2: 68,051,336 (GRCm39) |
|
probably benign |
Het |
| Sun3 |
G |
A |
11: 8,988,311 (GRCm39) |
R4* |
probably null |
Het |
| Svil |
A |
G |
18: 5,054,025 (GRCm39) |
K347E |
possibly damaging |
Het |
| Sybu |
T |
A |
15: 44,541,063 (GRCm39) |
E333V |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,520 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
G |
T |
5: 112,483,613 (GRCm39) |
|
probably benign |
Het |
| Tmc1 |
A |
C |
19: 20,884,319 (GRCm39) |
D40E |
probably damaging |
Het |
| Twf2 |
G |
T |
9: 106,089,539 (GRCm39) |
G121W |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,775,636 (GRCm39) |
V50A |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,285,219 (GRCm39) |
L400Q |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,266,565 (GRCm39) |
Y861F |
probably damaging |
Het |
| Zfp608 |
T |
G |
18: 55,022,962 (GRCm39) |
T1485P |
probably damaging |
Het |
| Zfp619 |
T |
G |
7: 39,186,504 (GRCm39) |
S845A |
possibly damaging |
Het |
| Zscan4d |
A |
T |
7: 10,899,274 (GRCm39) |
M1K |
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 |
|
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'- TTCTCCCACAAGCACGATTGG -3'
(R):5'- AGGCACTGTGTCTCCTTAGAC -3'
Sequencing Primer
(F):5'- ACGATTGGCTGGCCATCCTAC -3'
(R):5'- TTAGACACTTGTTACCTGAACCAAC -3'
|
| Posted On |
2016-12-16 |
Incidental Mutation