Incidental Mutation 'R1161:Rgs7'
| ID |
100383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs7
|
| Ensembl Gene |
ENSMUSG00000026527 |
| Gene Name |
regulator of G protein signaling 7 |
| Synonyms |
|
| MMRRC Submission |
039234-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R1161 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
174886653-175320066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 174907021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 90
(T90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027812]
[ENSMUST00000192203]
[ENSMUST00000192227]
[ENSMUST00000194288]
[ENSMUST00000194555]
[ENSMUST00000195324]
[ENSMUST00000195477]
|
| AlphaFold |
O54829 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027812
AA Change: T407A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: T407A
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
1.69e-26 |
SMART |
|
G_gamma
|
252 |
316 |
4.56e-20 |
SMART |
|
GGL
|
255 |
316 |
2.75e-27 |
SMART |
|
RGS
|
333 |
448 |
9.08e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192203
|
| SMART Domains |
Protein: ENSMUSP00000141284
Gene: ENSMUSG00000026527
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RGS
|
1 |
31 |
2.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192227
AA Change: T407A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: T407A
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
1.69e-26 |
SMART |
|
G_gamma
|
252 |
316 |
4.56e-20 |
SMART |
|
GGL
|
255 |
316 |
2.75e-27 |
SMART |
|
RGS
|
333 |
448 |
9.08e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193798
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194288
AA Change: T90A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141855
Gene: ENSMUSG00000026527
AA Change: T90A
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
16 |
131 |
9.08e-49 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194555
AA Change: T407A
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: T407A
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
1.69e-26 |
SMART |
|
G_gamma
|
252 |
316 |
4.56e-20 |
SMART |
|
GGL
|
255 |
316 |
2.75e-27 |
SMART |
|
RGS
|
333 |
448 |
9.08e-49 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195324
AA Change: T407A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: T407A
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
7.7e-29 |
SMART |
|
G_gamma
|
252 |
316 |
2.1e-24 |
SMART |
|
GGL
|
255 |
316 |
1.8e-29 |
SMART |
|
RGS
|
333 |
448 |
3.4e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195477
AA Change: T110A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142181
Gene: ENSMUSG00000026527
AA Change: T110A
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
36 |
151 |
9.08e-49 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced exploration in a new environment, impaired glucose tolerance in males, and abnormal rod b-wave electrophysiology. Mice homozygous for a knock-out allele exhibit runting, delayed eye opening, and transient prolonged b-wave implicit time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
| Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
| Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
| Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
probably damaging |
Het |
|
| Other mutations in Rgs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01450:Rgs7
|
APN |
1 |
174,913,746 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02334:Rgs7
|
APN |
1 |
175,016,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02805:Rgs7
|
APN |
1 |
174,977,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Rgs7
|
APN |
1 |
175,098,401 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0269:Rgs7
|
UTSW |
1 |
175,098,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1658:Rgs7
|
UTSW |
1 |
174,907,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1840:Rgs7
|
UTSW |
1 |
174,980,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1944:Rgs7
|
UTSW |
1 |
174,980,769 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2064:Rgs7
|
UTSW |
1 |
174,949,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2114:Rgs7
|
UTSW |
1 |
174,918,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Rgs7
|
UTSW |
1 |
174,918,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Rgs7
|
UTSW |
1 |
175,016,785 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5106:Rgs7
|
UTSW |
1 |
174,904,416 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6042:Rgs7
|
UTSW |
1 |
174,977,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Rgs7
|
UTSW |
1 |
174,921,396 (GRCm39) |
missense |
probably benign |
|
|
R7689:Rgs7
|
UTSW |
1 |
174,949,296 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7814:Rgs7
|
UTSW |
1 |
174,903,635 (GRCm39) |
missense |
probably benign |
|
|
R7884:Rgs7
|
UTSW |
1 |
174,977,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8884:Rgs7
|
UTSW |
1 |
174,980,730 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1088:Rgs7
|
UTSW |
1 |
174,911,586 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation