Incidental Mutation 'R5373:Rgsl1'
| ID |
428842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
042949-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153666053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 986
(V986I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000141249]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124558
AA Change: V986I
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: V986I
| 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 |
noncoding transcript
Transcript: ENSMUST00000134030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141249
AA Change: V306I
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: V306I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145308
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185164
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (74/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,396 (GRCm39) |
S862G |
probably benign |
Het |
| Abcb5 |
G |
T |
12: 118,850,912 (GRCm39) |
T887K |
probably damaging |
Het |
| Adgrf1 |
G |
A |
17: 43,601,896 (GRCm39) |
|
probably benign |
Het |
| Adss2 |
T |
G |
1: 177,623,954 (GRCm39) |
I3L |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,576,280 (GRCm39) |
D302E |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,789,306 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
T |
G |
9: 111,896,336 (GRCm39) |
M687L |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,824,088 (GRCm39) |
S221P |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,413,409 (GRCm39) |
T649M |
possibly damaging |
Het |
| Cdh12 |
A |
C |
15: 21,583,998 (GRCm39) |
S613R |
probably damaging |
Het |
| Chsy1 |
C |
T |
7: 65,759,824 (GRCm39) |
Q56* |
probably null |
Het |
| Cisd2 |
A |
G |
3: 135,114,596 (GRCm39) |
V125A |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,084,903 (GRCm39) |
H1121Q |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,296 (GRCm39) |
C876S |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,300,287 (GRCm39) |
V3198A |
unknown |
Het |
| Cspp1 |
T |
G |
1: 10,204,351 (GRCm39) |
L1038R |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,416,234 (GRCm39) |
K147E |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,873,614 (GRCm39) |
D739G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,276,473 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,472,824 (GRCm39) |
I317T |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,494,101 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,784,670 (GRCm39) |
Y730H |
probably damaging |
Het |
| Dusp3 |
A |
G |
11: 101,875,451 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,843,277 (GRCm39) |
I151N |
probably damaging |
Het |
| Eml2 |
A |
T |
7: 18,913,188 (GRCm39) |
D62V |
possibly damaging |
Het |
| Epb41l3 |
C |
A |
17: 69,593,795 (GRCm39) |
H810N |
probably damaging |
Het |
| Evc2 |
C |
T |
5: 37,535,554 (GRCm39) |
R410W |
probably damaging |
Het |
| Fam169b |
T |
C |
7: 67,950,586 (GRCm39) |
Y13H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,353,698 (GRCm39) |
T348A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,344,803 (GRCm38) |
V128E |
possibly damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,226,573 (GRCm39) |
S18P |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 22,031,795 (GRCm39) |
H4L |
unknown |
Het |
| Kdm5d |
C |
T |
Y: 927,995 (GRCm39) |
P756S |
probably benign |
Het |
| Lig1 |
AG |
A |
7: 13,039,849 (GRCm39) |
|
probably null |
Het |
| Ly75 |
A |
T |
2: 60,142,115 (GRCm39) |
L1332M |
possibly damaging |
Het |
| Med1 |
T |
A |
11: 98,054,789 (GRCm39) |
K378N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,752 (GRCm39) |
|
probably null |
Het |
| Mpo |
T |
C |
11: 87,694,437 (GRCm39) |
|
probably null |
Het |
| Mtfr2 |
G |
T |
10: 20,228,598 (GRCm39) |
C48F |
probably benign |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
T |
C |
18: 37,818,649 (GRCm39) |
V66A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,614 (GRCm39) |
S534P |
probably benign |
Het |
| Pla2g4e |
A |
T |
2: 120,016,876 (GRCm39) |
C222S |
probably benign |
Het |
| Plch1 |
A |
C |
3: 63,605,499 (GRCm39) |
H1468Q |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,140,556 (GRCm39) |
W610R |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,198 (GRCm39) |
K548N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,160 (GRCm39) |
M669T |
probably benign |
Het |
| Ptprf |
G |
T |
4: 118,083,238 (GRCm39) |
T923K |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,213,665 (GRCm38) |
N1011S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,993,725 (GRCm39) |
T596A |
probably benign |
Het |
| Serpina3j |
A |
G |
12: 104,280,986 (GRCm39) |
D53G |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,546,447 (GRCm39) |
I294N |
probably damaging |
Het |
| Slirp |
T |
C |
12: 87,496,192 (GRCm39) |
S96P |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,817,513 (GRCm39) |
E128G |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,031 (GRCm39) |
|
probably null |
Het |
| Stap1 |
A |
G |
5: 86,238,787 (GRCm39) |
T152A |
possibly damaging |
Het |
| Susd5 |
G |
A |
9: 113,911,653 (GRCm39) |
G188R |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,744 (GRCm39) |
Y125* |
probably null |
Het |
| Tnrc18 |
G |
A |
5: 142,725,911 (GRCm39) |
R1793C |
unknown |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,632 (GRCm39) |
D143E |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,255 (GRCm39) |
Y296* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,267,750 (GRCm39) |
T68I |
possibly damaging |
Het |
| Zc3h6 |
A |
T |
2: 128,844,076 (GRCm39) |
I207F |
possibly damaging |
Het |
| Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
| Zfp85 |
T |
C |
13: 67,897,577 (GRCm39) |
Y165C |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,803,462 (GRCm39) |
N541D |
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 |
|
|
R5304:Rgsl1
|
UTSW |
1 |
153,703,238 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5331:Rgsl1
|
UTSW |
1 |
153,678,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- GGACCAAGTTAAGGTGATGACC -3'
(R):5'- TGTTGGACATCCCACAGTCTG -3'
Sequencing Primer
(F):5'- GACCAAGTTAAGGTGATGACCATTAC -3'
(R):5'- TCTGGATGACTGGACCTACC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation