Incidental Mutation 'IGL02805:Rgs7'
| ID |
360375 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rgs7
|
| Ensembl Gene |
ENSMUSG00000026527 |
| Gene Name |
regulator of G protein signaling 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
IGL02805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
174886653-175320066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 174977262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 114
(Y114C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027812]
[ENSMUST00000192227]
[ENSMUST00000194555]
[ENSMUST00000195324]
|
| AlphaFold |
O54829 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027812
AA Change: Y114C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: Y114C
| 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: ENSMUST00000192227
AA Change: Y114C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: Y114C
| 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 |
possibly damaging
Transcript: ENSMUST00000194555
AA Change: Y114C
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: Y114C
| 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: Y114C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: Y114C
| 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 |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,113,959 (GRCm39) |
|
probably benign |
Het |
| Ankdd1b |
A |
G |
13: 96,580,810 (GRCm39) |
S163P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,456,038 (GRCm39) |
|
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,623,144 (GRCm39) |
N172S |
possibly damaging |
Het |
| Avil |
G |
A |
10: 126,843,486 (GRCm39) |
V139I |
possibly damaging |
Het |
| C130073F10Rik |
A |
T |
4: 101,748,171 (GRCm39) |
M1K |
probably null |
Het |
| Ccdc33 |
T |
A |
9: 58,005,874 (GRCm39) |
I37F |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,009,199 (GRCm39) |
M550V |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,185,566 (GRCm39) |
D121G |
possibly damaging |
Het |
| Cgn |
T |
A |
3: 94,681,687 (GRCm39) |
L469F |
probably damaging |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,704 (GRCm39) |
G458R |
possibly damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,359,195 (GRCm39) |
N151K |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,790,046 (GRCm39) |
V163A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,406 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
T |
8: 124,016,233 (GRCm39) |
I670N |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,823,839 (GRCm39) |
V6524A |
probably benign |
Het |
| Gm10985 |
T |
C |
3: 53,752,514 (GRCm39) |
|
probably null |
Het |
| Gm1818 |
C |
T |
12: 48,602,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hars2 |
C |
T |
18: 36,920,630 (GRCm39) |
R158* |
probably null |
Het |
| Htr5b |
A |
G |
1: 121,455,617 (GRCm39) |
V101A |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,386,885 (GRCm39) |
I356V |
possibly damaging |
Het |
| Itga8 |
T |
A |
2: 12,194,291 (GRCm39) |
N703I |
possibly damaging |
Het |
| Or8b3 |
T |
A |
9: 38,315,132 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,542,428 (GRCm39) |
N406D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,600,411 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,344,203 (GRCm39) |
T446A |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,892 (GRCm39) |
D1562G |
probably damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,063 (GRCm39) |
D500E |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 58,055,391 (GRCm39) |
I4T |
possibly damaging |
Het |
| Srebf2 |
C |
A |
15: 82,054,045 (GRCm39) |
N35K |
probably benign |
Het |
| Srgap3 |
G |
T |
6: 112,704,224 (GRCm39) |
H922N |
probably damaging |
Het |
| Stk32c |
A |
C |
7: 138,701,762 (GRCm39) |
H112Q |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,630 (GRCm39) |
E994G |
probably damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,043,758 (GRCm39) |
D391G |
probably damaging |
Het |
| Vmn2r38 |
T |
A |
7: 9,078,546 (GRCm39) |
H612L |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,114,666 (GRCm39) |
I289S |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zscan4d |
T |
G |
7: 10,898,897 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R1161:Rgs7
|
UTSW |
1 |
174,907,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation