Incidental Mutation 'R0839:Rgsl1'
| ID |
78079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
039018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0839 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 153677980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000124558]
[ENSMUST00000124558]
[ENSMUST00000124558]
[ENSMUST00000141249]
[ENSMUST00000141249]
[ENSMUST00000185164]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000124558
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
| 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 null
Transcript: ENSMUST00000124558
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
| 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 null
Transcript: ENSMUST00000124558
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
| 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 null
Transcript: ENSMUST00000124558
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
| 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 null
Transcript: ENSMUST00000141249
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141249
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| 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 |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206321
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,920,527 (GRCm39) |
V1083M |
probably damaging |
Het |
| Aco2 |
A |
G |
15: 81,791,736 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
T |
17: 47,747,752 (GRCm39) |
Q8L |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,261,980 (GRCm39) |
D295G |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,442 (GRCm39) |
I464L |
probably benign |
Het |
| Cdc5l |
A |
C |
17: 45,704,073 (GRCm39) |
M717R |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,271,015 (GRCm39) |
P809S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,459 (GRCm39) |
M358T |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,765,456 (GRCm39) |
S799P |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,805,561 (GRCm39) |
C933R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,729,188 (GRCm39) |
N1275S |
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,017,652 (GRCm39) |
I659T |
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,645,357 (GRCm39) |
Y201* |
probably null |
Het |
| Gle1 |
T |
A |
2: 29,848,462 (GRCm39) |
C679S |
probably benign |
Het |
| Gm10118 |
T |
G |
10: 63,762,643 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
| H2-Q7 |
A |
G |
17: 35,658,688 (GRCm39) |
S109G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,882,418 (GRCm39) |
V2809A |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,536 (GRCm39) |
D366E |
probably benign |
Het |
| Kctd20 |
A |
T |
17: 29,176,872 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,214,346 (GRCm39) |
A1809T |
probably benign |
Het |
| Manea |
T |
C |
4: 26,327,983 (GRCm39) |
I353V |
probably damaging |
Het |
| Mybl2 |
T |
C |
2: 162,917,688 (GRCm39) |
Y65H |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,021,042 (GRCm39) |
E1744K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,560 (GRCm39) |
D1922G |
probably damaging |
Het |
| Nepro |
C |
A |
16: 44,556,382 (GRCm39) |
D513E |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,531,192 (GRCm39) |
I185K |
possibly damaging |
Het |
| Npat |
A |
T |
9: 53,456,480 (GRCm39) |
Q17L |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,175,071 (GRCm39) |
E956G |
possibly damaging |
Het |
| Or1e35 |
T |
A |
11: 73,798,138 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or1x6 |
A |
G |
11: 50,939,254 (GRCm39) |
I107V |
probably benign |
Het |
| Or2a14 |
T |
A |
6: 43,130,558 (GRCm39) |
F106L |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,545 (GRCm39) |
V118A |
probably damaging |
Het |
| Or8g18 |
A |
T |
9: 39,149,146 (GRCm39) |
N191K |
possibly damaging |
Het |
| Or8g4 |
A |
T |
9: 39,661,687 (GRCm39) |
I2L |
probably benign |
Het |
| Or9e1 |
G |
A |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
| Pah |
T |
C |
10: 87,357,924 (GRCm39) |
S16P |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,462,614 (GRCm39) |
P1365Q |
probably null |
Het |
| Pds5b |
G |
T |
5: 150,688,427 (GRCm39) |
V640F |
probably benign |
Het |
| Pgam5 |
A |
T |
5: 110,414,996 (GRCm39) |
H72Q |
probably benign |
Het |
| Plagl2 |
C |
A |
2: 153,074,461 (GRCm39) |
A147S |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,256,545 (GRCm39) |
L113Q |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,722 (GRCm39) |
V89A |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,028,870 (GRCm39) |
Y443H |
possibly damaging |
Het |
| Ralgapb |
T |
C |
2: 158,315,203 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
C |
16: 32,647,713 (GRCm39) |
I681M |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,321,434 (GRCm39) |
L169S |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 33,721,276 (GRCm39) |
K55E |
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,741,159 (GRCm39) |
I542N |
probably damaging |
Het |
| Syf2 |
T |
A |
4: 134,663,374 (GRCm39) |
V182D |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,144,717 (GRCm39) |
V271A |
probably benign |
Het |
| Tmem33 |
T |
A |
5: 67,421,651 (GRCm39) |
L60Q |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,284 (GRCm39) |
V263A |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,806,020 (GRCm39) |
V798A |
probably benign |
Het |
| Zfp384 |
C |
A |
6: 125,013,631 (GRCm39) |
D550E |
probably benign |
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 |
|
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 |
|
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'- ACTTGCTGGCTCTTTGAGAAGCAC -3'
(R):5'- TGGGTTCCCTCACCCTCAAAATGG -3'
Sequencing Primer
(F):5'- TTTGAGAAGCACCTCTATCCAGG -3'
(R):5'- ATCAGGTTTGTGGCACACAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation