Incidental Mutation 'R5304:Rgsl1'
| ID |
404392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
042887-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5304 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153703238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 173
(T173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124558
AA Change: T138A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: T138A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
325 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
644 |
754 |
7.1e-12 |
PFAM |
|
transmembrane domain
|
956 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185164
AA Change: T173A
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: T173A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
360 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
679 |
789 |
4.1e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.1106 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (87/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
T |
11: 7,014,198 (GRCm39) |
A200V |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,726,372 (GRCm39) |
D551G |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,144,538 (GRCm39) |
V340A |
probably damaging |
Het |
| Amy1 |
C |
A |
3: 113,352,013 (GRCm39) |
C393F |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,794,545 (GRCm39) |
V310A |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,063 (GRCm39) |
S686G |
probably null |
Het |
| Arid4b |
T |
A |
13: 14,361,514 (GRCm39) |
N659K |
probably benign |
Het |
| Asz1 |
C |
T |
6: 18,076,619 (GRCm39) |
R191Q |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,879,383 (GRCm39) |
I947V |
probably damaging |
Het |
| AW011738 |
G |
A |
4: 156,287,969 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
G |
T |
2: 143,669,211 (GRCm39) |
T456K |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,883,864 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,036,569 (GRCm39) |
C583Y |
probably damaging |
Het |
| Ceacam23 |
A |
C |
7: 17,636,617 (GRCm39) |
E231D |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,656,968 (GRCm39) |
L3028Q |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 15,975,213 (GRCm39) |
S1088G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,990,530 (GRCm39) |
H1694L |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,493,735 (GRCm39) |
E580* |
probably null |
Het |
| Dip2a |
A |
T |
10: 76,130,357 (GRCm39) |
M622K |
possibly damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,122,202 (GRCm39) |
H877L |
probably damaging |
Het |
| Egfr |
G |
T |
11: 16,834,260 (GRCm39) |
M122I |
probably benign |
Het |
| Etfbkmt |
T |
A |
6: 149,048,704 (GRCm39) |
D114E |
probably damaging |
Het |
| Eva1c |
T |
C |
16: 90,666,551 (GRCm39) |
L158P |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,720,542 (GRCm39) |
V287M |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,654 (GRCm39) |
Y471H |
probably damaging |
Het |
| Fermt1 |
T |
A |
2: 132,783,986 (GRCm39) |
T8S |
probably benign |
Het |
| Fgfr2 |
G |
T |
7: 129,769,504 (GRCm39) |
P630T |
probably damaging |
Het |
| Fmo5 |
G |
A |
3: 97,558,938 (GRCm39) |
G466E |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,215 (GRCm39) |
I280M |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,511,174 (GRCm39) |
K443T |
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,003 (GRCm39) |
F145S |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 86,996,902 (GRCm39) |
H300L |
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,869,326 (GRCm39) |
Q340R |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,149 (GRCm39) |
D140G |
unknown |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,683 (GRCm39) |
Q365L |
probably benign |
Het |
| Lrwd1 |
G |
T |
5: 136,160,004 (GRCm39) |
T353K |
possibly damaging |
Het |
| Lsm14a |
A |
T |
7: 34,053,154 (GRCm39) |
S240R |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 19,983,984 (GRCm39) |
I870V |
probably benign |
Het |
| Matcap2 |
A |
T |
9: 22,335,528 (GRCm39) |
T49S |
probably benign |
Het |
| Mmp17 |
A |
T |
5: 129,671,678 (GRCm39) |
E76V |
probably null |
Het |
| Mphosph10 |
A |
G |
7: 64,038,732 (GRCm39) |
F272L |
probably damaging |
Het |
| Mtcl2 |
G |
A |
2: 156,865,737 (GRCm39) |
Q1127* |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,655,071 (GRCm39) |
K380R |
probably damaging |
Het |
| Myo3b |
C |
T |
2: 70,257,232 (GRCm39) |
P1282L |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,682,238 (GRCm39) |
|
probably benign |
Het |
| Ola1 |
T |
C |
2: 73,029,778 (GRCm39) |
I114V |
probably damaging |
Het |
| Or4c3d |
T |
A |
2: 89,882,257 (GRCm39) |
H137L |
probably benign |
Het |
| Or8k28 |
T |
A |
2: 86,285,779 (GRCm39) |
T279S |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,184,100 (GRCm39) |
D204E |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,777,230 (GRCm39) |
M679L |
probably benign |
Het |
| Pik3c2b |
A |
T |
1: 132,998,146 (GRCm39) |
M341L |
possibly damaging |
Het |
| Plin4 |
T |
A |
17: 56,413,132 (GRCm39) |
T498S |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,562,459 (GRCm39) |
S15P |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,984 (GRCm39) |
Y502C |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,050 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,548,200 (GRCm39) |
S505P |
probably benign |
Het |
| Rgmb |
G |
T |
17: 16,040,990 (GRCm39) |
S199* |
probably null |
Het |
| Rhobtb1 |
G |
T |
10: 69,105,742 (GRCm39) |
K102N |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Rsad2 |
A |
T |
12: 26,500,681 (GRCm39) |
V202E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,629,141 (GRCm39) |
N186S |
probably damaging |
Het |
| Sorbs3 |
G |
A |
14: 70,422,345 (GRCm39) |
R622* |
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,743,900 (GRCm39) |
Y446C |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 129,605,980 (GRCm39) |
R574* |
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,217 (GRCm39) |
Y275* |
probably null |
Het |
| Topors |
A |
T |
4: 40,262,541 (GRCm39) |
S248T |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,858,694 (GRCm39) |
Y239F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,548,527 (GRCm39) |
Y30179F |
possibly damaging |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,724 (GRCm39) |
F399L |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,088,995 (GRCm39) |
I317F |
probably damaging |
Het |
| Usp1 |
T |
C |
4: 98,822,855 (GRCm39) |
V723A |
probably benign |
Het |
| Usp34 |
T |
G |
11: 23,293,616 (GRCm39) |
L237V |
probably damaging |
Het |
| Vgf |
A |
T |
5: 137,061,140 (GRCm39) |
D434V |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,100 (GRCm39) |
N97S |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,751 (GRCm39) |
L899P |
possibly damaging |
Het |
| Vps33b |
A |
T |
7: 79,924,001 (GRCm39) |
I41F |
probably damaging |
Het |
| Zap70 |
A |
T |
1: 36,817,299 (GRCm39) |
H210L |
probably damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,770,835 (GRCm39) |
D300G |
probably benign |
Het |
| Zfp958 |
C |
A |
8: 4,676,196 (GRCm39) |
H55N |
possibly damaging |
Het |
|
| Other mutations in Rgsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01372:Rgsl1
|
APN |
1 |
153,701,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:Rgsl1
|
APN |
1 |
153,669,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02345:Rgsl1
|
APN |
1 |
153,679,755 (GRCm39) |
splice site |
probably null |
|
|
IGL02409:Rgsl1
|
APN |
1 |
153,701,989 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02587:Rgsl1
|
APN |
1 |
153,675,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Rgsl1
|
APN |
1 |
153,701,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Rgsl1
|
APN |
1 |
153,683,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03032:Rgsl1
|
APN |
1 |
153,701,948 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03082:Rgsl1
|
APN |
1 |
153,675,693 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03123:Rgsl1
|
APN |
1 |
153,701,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Rgsl1
|
APN |
1 |
153,701,587 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03410:Rgsl1
|
APN |
1 |
153,669,501 (GRCm39) |
missense |
probably null |
0.82 |
|
Bam
|
UTSW |
1 |
153,669,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
Candygram
|
UTSW |
1 |
153,697,245 (GRCm39) |
nonsense |
probably null |
|
|
wham
|
UTSW |
1 |
153,678,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03050:Rgsl1
|
UTSW |
1 |
153,701,422 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4519001:Rgsl1
|
UTSW |
1 |
153,701,716 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0149:Rgsl1
|
UTSW |
1 |
153,669,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0536:Rgsl1
|
UTSW |
1 |
153,701,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Rgsl1
|
UTSW |
1 |
153,719,853 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0726:Rgsl1
|
UTSW |
1 |
153,678,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Rgsl1
|
UTSW |
1 |
153,677,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1240:Rgsl1
|
UTSW |
1 |
153,660,937 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1355:Rgsl1
|
UTSW |
1 |
153,683,507 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
R1491:Rgsl1
|
UTSW |
1 |
153,701,672 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1688:Rgsl1
|
UTSW |
1 |
153,680,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1694:Rgsl1
|
UTSW |
1 |
153,680,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1842:Rgsl1
|
UTSW |
1 |
153,675,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Rgsl1
|
UTSW |
1 |
153,701,651 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2114:Rgsl1
|
UTSW |
1 |
153,693,295 (GRCm39) |
missense |
probably benign |
|
|
R2116:Rgsl1
|
UTSW |
1 |
153,693,295 (GRCm39) |
missense |
probably benign |
|
|
R2176:Rgsl1
|
UTSW |
1 |
153,701,014 (GRCm39) |
splice site |
probably benign |
|
|
R2229:Rgsl1
|
UTSW |
1 |
153,698,104 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2895:Rgsl1
|
UTSW |
1 |
153,703,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Rgsl1
|
UTSW |
1 |
153,679,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4001:Rgsl1
|
UTSW |
1 |
153,693,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Rgsl1
|
UTSW |
1 |
153,678,087 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4489:Rgsl1
|
UTSW |
1 |
153,703,282 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4649:Rgsl1
|
UTSW |
1 |
153,693,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4925:Rgsl1
|
UTSW |
1 |
153,688,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4928:Rgsl1
|
UTSW |
1 |
153,669,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Rgsl1
|
UTSW |
1 |
153,697,268 (GRCm39) |
nonsense |
probably null |
|
|
R5331:Rgsl1
|
UTSW |
1 |
153,678,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5373:Rgsl1
|
UTSW |
1 |
153,666,053 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5374:Rgsl1
|
UTSW |
1 |
153,666,053 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5566:Rgsl1
|
UTSW |
1 |
153,669,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Rgsl1
|
UTSW |
1 |
153,701,639 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6062:Rgsl1
|
UTSW |
1 |
153,675,618 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6142:Rgsl1
|
UTSW |
1 |
153,687,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6158:Rgsl1
|
UTSW |
1 |
153,679,767 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6184:Rgsl1
|
UTSW |
1 |
153,703,194 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6273:Rgsl1
|
UTSW |
1 |
153,703,211 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6384:Rgsl1
|
UTSW |
1 |
153,703,291 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6419:Rgsl1
|
UTSW |
1 |
153,698,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6568:Rgsl1
|
UTSW |
1 |
153,697,292 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6660:Rgsl1
|
UTSW |
1 |
153,701,512 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6745:Rgsl1
|
UTSW |
1 |
153,698,063 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6892:Rgsl1
|
UTSW |
1 |
153,697,245 (GRCm39) |
nonsense |
probably null |
|
|
R6974:Rgsl1
|
UTSW |
1 |
153,675,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Rgsl1
|
UTSW |
1 |
153,701,966 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7200:Rgsl1
|
UTSW |
1 |
153,660,945 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7275:Rgsl1
|
UTSW |
1 |
153,679,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7313:Rgsl1
|
UTSW |
1 |
153,683,622 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7341:Rgsl1
|
UTSW |
1 |
153,669,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7448:Rgsl1
|
UTSW |
1 |
153,719,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7662:Rgsl1
|
UTSW |
1 |
153,701,225 (GRCm39) |
missense |
probably benign |
|
|
R7703:Rgsl1
|
UTSW |
1 |
153,669,610 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7846:Rgsl1
|
UTSW |
1 |
153,701,783 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8408:Rgsl1
|
UTSW |
1 |
153,701,435 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8860:Rgsl1
|
UTSW |
1 |
153,697,100 (GRCm39) |
nonsense |
probably null |
|
|
R8894:Rgsl1
|
UTSW |
1 |
153,698,119 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9043:Rgsl1
|
UTSW |
1 |
153,717,567 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9187:Rgsl1
|
UTSW |
1 |
153,669,613 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9280:Rgsl1
|
UTSW |
1 |
153,669,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9326:Rgsl1
|
UTSW |
1 |
153,679,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9388:Rgsl1
|
UTSW |
1 |
153,693,355 (GRCm39) |
missense |
probably benign |
|
|
R9479:Rgsl1
|
UTSW |
1 |
153,657,445 (GRCm39) |
missense |
unknown |
|
|
X0020:Rgsl1
|
UTSW |
1 |
153,701,131 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0065:Rgsl1
|
UTSW |
1 |
153,679,779 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Rgsl1
|
UTSW |
1 |
153,701,734 (GRCm39) |
missense |
not run |
|
|
Z1177:Rgsl1
|
UTSW |
1 |
153,693,356 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACTAGCAACTCTGACAGC -3'
(R):5'- TGCAGCAAAGCACATCTTGG -3'
Sequencing Primer
(F):5'- ACTCTGACAGCATGCTGATG -3'
(R):5'- GGAGCAGCTGCATCAAGATATCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation