Incidental Mutation 'R0633:Rgsl1'
| ID |
58035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
038822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0633 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 153719853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 3
(N3T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124558
AA Change: N3T
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: N3T
| 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: ENSMUST00000185164
AA Change: N3T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: N3T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
A |
T |
9: 30,854,807 (GRCm39) |
R18S |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,267,473 (GRCm39) |
A923V |
probably benign |
Het |
| Aldh1a3 |
A |
G |
7: 66,049,970 (GRCm39) |
V416A |
probably damaging |
Het |
| Alox5 |
C |
T |
6: 116,397,345 (GRCm39) |
G280R |
probably damaging |
Het |
| Anapc5 |
A |
T |
5: 122,938,695 (GRCm39) |
Y360N |
probably damaging |
Het |
| Apbb1 |
C |
T |
7: 105,208,170 (GRCm39) |
V685I |
probably damaging |
Het |
| Apc2 |
C |
A |
10: 80,143,289 (GRCm39) |
A463E |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,860,198 (GRCm39) |
W1170* |
probably null |
Het |
| Atat1 |
G |
A |
17: 36,212,315 (GRCm39) |
R305C |
probably damaging |
Het |
| Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
| Cars2 |
T |
C |
8: 11,600,511 (GRCm39) |
D56G |
probably benign |
Het |
| Ccdc202 |
T |
G |
14: 96,119,379 (GRCm39) |
N45K |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,311,989 (GRCm39) |
I108V |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,305,979 (GRCm39) |
I1255K |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,381,088 (GRCm39) |
L148P |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,656,209 (GRCm39) |
|
probably null |
Het |
| Cpe |
G |
A |
8: 65,062,237 (GRCm39) |
P273L |
probably damaging |
Het |
| Cpsf7 |
A |
G |
19: 10,509,146 (GRCm39) |
D19G |
probably benign |
Het |
| Ddx25 |
C |
A |
9: 35,457,268 (GRCm39) |
R349L |
probably damaging |
Het |
| Depdc7 |
T |
C |
2: 104,553,226 (GRCm39) |
D446G |
probably benign |
Het |
| Det1 |
T |
A |
7: 78,493,683 (GRCm39) |
N107I |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,755,713 (GRCm39) |
D170E |
probably benign |
Het |
| Dvl1 |
C |
T |
4: 155,942,752 (GRCm39) |
L673F |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,952,767 (GRCm39) |
I222K |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,467 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ikzf1 |
A |
G |
11: 11,719,223 (GRCm39) |
E310G |
probably damaging |
Het |
| Impg1 |
T |
C |
9: 80,301,437 (GRCm39) |
E163G |
possibly damaging |
Het |
| Itpr2 |
G |
T |
6: 146,275,954 (GRCm39) |
H426Q |
probably damaging |
Het |
| Itpripl2 |
C |
T |
7: 118,089,479 (GRCm39) |
G360D |
probably benign |
Het |
| Kif14 |
C |
T |
1: 136,455,043 (GRCm39) |
R1572C |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,178,583 (GRCm39) |
H568Q |
unknown |
Het |
| Lgi2 |
A |
G |
5: 52,711,802 (GRCm39) |
Y173H |
probably damaging |
Het |
| Lpar5 |
A |
C |
6: 125,058,954 (GRCm39) |
Y225S |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,745,894 (GRCm39) |
H675R |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,278,464 (GRCm39) |
G3963V |
probably damaging |
Het |
| Man1a2 |
G |
T |
3: 100,591,891 (GRCm39) |
D13E |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,138,495 (GRCm39) |
V2753A |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,980,865 (GRCm39) |
N97K |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 87,980,238 (GRCm39) |
|
probably null |
Het |
| Msr1 |
T |
C |
8: 40,073,041 (GRCm39) |
E170G |
probably damaging |
Het |
| Myrip |
C |
A |
9: 120,217,302 (GRCm39) |
R79S |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,857,782 (GRCm38) |
|
probably null |
Het |
| Neto1 |
C |
T |
18: 86,422,854 (GRCm39) |
R104* |
probably null |
Het |
| Nom1 |
A |
C |
5: 29,656,098 (GRCm39) |
K821T |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,011,609 (GRCm39) |
V340A |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,307,897 (GRCm39) |
I334F |
probably benign |
Het |
| Or1e23 |
A |
G |
11: 73,407,753 (GRCm39) |
S91P |
probably benign |
Het |
| Or2ag1 |
T |
C |
7: 106,313,184 (GRCm39) |
K235E |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,439,718 (GRCm39) |
M243V |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,435 (GRCm39) |
N286I |
probably damaging |
Het |
| Or5b124 |
T |
C |
19: 13,610,700 (GRCm39) |
V75A |
probably damaging |
Het |
| Or8k27 |
C |
T |
2: 86,275,473 (GRCm39) |
M284I |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,484,896 (GRCm39) |
S322P |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,991,810 (GRCm39) |
Y44H |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,743,767 (GRCm39) |
S163P |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,381,445 (GRCm39) |
D227G |
probably benign |
Het |
| Ptgfr |
C |
T |
3: 151,507,400 (GRCm39) |
R321H |
probably benign |
Het |
| Resf1 |
A |
T |
6: 149,227,199 (GRCm39) |
I82L |
probably benign |
Het |
| Rgs3 |
G |
A |
4: 62,544,143 (GRCm39) |
R136H |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,002,575 (GRCm39) |
S2010P |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,368,690 (GRCm39) |
F408L |
probably damaging |
Het |
| Rtn3 |
T |
G |
19: 7,434,958 (GRCm39) |
T326P |
probably benign |
Het |
| Slc18b1 |
A |
C |
10: 23,681,936 (GRCm39) |
M167L |
probably benign |
Het |
| Slc22a26 |
A |
G |
19: 7,765,575 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,989,317 (GRCm39) |
D130G |
probably damaging |
Het |
| Snap47 |
A |
G |
11: 59,319,439 (GRCm39) |
V233A |
probably benign |
Het |
| Sumf1 |
A |
C |
6: 108,121,632 (GRCm39) |
Y158D |
probably damaging |
Het |
| Tbc1d15 |
A |
T |
10: 115,056,215 (GRCm39) |
H252Q |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 130,116,263 (GRCm39) |
S1339P |
possibly damaging |
Het |
| Tmem45a2 |
T |
C |
16: 56,869,777 (GRCm39) |
I56V |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,066,577 (GRCm39) |
S359P |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,036,972 (GRCm39) |
I215T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,554,539 (GRCm39) |
V30759I |
possibly damaging |
Het |
| Vdac3 |
T |
C |
8: 23,070,404 (GRCm39) |
N168S |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,226,948 (GRCm39) |
F16Y |
probably damaging |
Het |
| Zfat |
C |
A |
15: 68,052,652 (GRCm39) |
D381Y |
probably 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 |
|
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 |
|
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'- TGACTGATACCAGGCCATGTTTGTC -3'
(R):5'- GCCAAGTTCAGTGATGTGACTCCTC -3'
Sequencing Primer
(F):5'- CAGGCCATGTTTGTCTTTGAATAAC -3'
(R):5'- CTTAGACAGACTTGGGAAGACATTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation