Incidental Mutation 'R6062:Rgsl1'
| ID |
483824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
044227-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153675618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 181
(K181R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000141249]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124558
AA Change: K861R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: K861R
| 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 |
possibly damaging
Transcript: ENSMUST00000141249
AA Change: K181R
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: K181R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185164
AA Change: K896R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: K896R
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
T |
A |
17: 36,219,456 (GRCm39) |
Q136L |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,399,887 (GRCm39) |
L1531P |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,480,354 (GRCm39) |
R2708H |
probably damaging |
Het |
| Cand1 |
G |
A |
10: 119,053,915 (GRCm39) |
A141V |
possibly damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,689 (GRCm39) |
S35P |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,806 (GRCm39) |
|
probably null |
Het |
| Colec10 |
T |
A |
15: 54,323,203 (GRCm39) |
M142K |
possibly damaging |
Het |
| Crtc1 |
G |
T |
8: 70,858,839 (GRCm39) |
D90E |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,142,319 (GRCm39) |
E1528G |
possibly damaging |
Het |
| Csnk2a2 |
A |
G |
8: 96,184,097 (GRCm39) |
V154A |
possibly damaging |
Het |
| Daglb |
T |
C |
5: 143,480,358 (GRCm39) |
I454T |
probably benign |
Het |
| Dtna |
C |
A |
18: 23,755,113 (GRCm39) |
N478K |
possibly damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,343,448 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
G |
T |
4: 58,826,453 (GRCm39) |
S1038Y |
possibly damaging |
Het |
| Eefsec |
A |
T |
6: 88,332,611 (GRCm39) |
S200T |
probably benign |
Het |
| Enthd1 |
T |
A |
15: 80,336,916 (GRCm39) |
D506V |
probably damaging |
Het |
| Erbb2 |
A |
G |
11: 98,324,075 (GRCm39) |
Y736C |
probably damaging |
Het |
| Gabrg1 |
A |
G |
5: 70,938,056 (GRCm39) |
C183R |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,651,097 (GRCm39) |
H103L |
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,735,033 (GRCm39) |
Q1427K |
possibly damaging |
Het |
| Grb14 |
G |
T |
2: 64,852,964 (GRCm39) |
Q9K |
possibly damaging |
Het |
| Hbp1 |
A |
T |
12: 31,987,246 (GRCm39) |
M192K |
probably damaging |
Het |
| Herpud2 |
A |
T |
9: 25,020,284 (GRCm39) |
D357E |
probably damaging |
Het |
| Idi1 |
A |
G |
13: 8,937,541 (GRCm39) |
S111G |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,147,748 (GRCm39) |
V176A |
probably benign |
Het |
| Matn1 |
T |
A |
4: 130,679,277 (GRCm39) |
D310E |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,257,830 (GRCm39) |
L469Q |
possibly damaging |
Het |
| Muc4 |
A |
G |
16: 32,579,682 (GRCm39) |
D2417G |
unknown |
Het |
| Myo7b |
T |
C |
18: 32,101,043 (GRCm39) |
T1551A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,075,293 (GRCm39) |
M224T |
probably benign |
Het |
| Ola1 |
A |
T |
2: 73,029,842 (GRCm39) |
D92E |
probably damaging |
Het |
| Or1e28-ps1 |
A |
C |
11: 73,615,386 (GRCm39) |
C155G |
unknown |
Het |
| Or4l1 |
A |
T |
14: 50,166,119 (GRCm39) |
M294K |
probably damaging |
Het |
| Or5ar1 |
T |
G |
2: 85,671,458 (GRCm39) |
I226L |
probably benign |
Het |
| Or8b48 |
T |
A |
9: 38,450,440 (GRCm39) |
M83K |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,400,525 (GRCm39) |
Y1080H |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,513,195 (GRCm39) |
A165T |
probably benign |
Het |
| Prelid2 |
T |
C |
18: 42,045,530 (GRCm39) |
I127V |
probably benign |
Het |
| Rab35 |
A |
G |
5: 115,778,147 (GRCm39) |
I38V |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,590,744 (GRCm39) |
E321G |
probably damaging |
Het |
| Rem1 |
T |
C |
2: 152,470,017 (GRCm39) |
M1T |
probably null |
Het |
| Scel |
C |
A |
14: 103,822,572 (GRCm39) |
N395K |
possibly damaging |
Het |
| Septin9 |
A |
G |
11: 117,181,626 (GRCm39) |
E142G |
possibly damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,814,905 (GRCm39) |
M191R |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,651,647 (GRCm39) |
N520S |
probably damaging |
Het |
| Slc28a1 |
C |
T |
7: 80,765,311 (GRCm39) |
R9* |
probably null |
Het |
| Slc2a7 |
T |
C |
4: 150,252,884 (GRCm39) |
V508A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,124 (GRCm39) |
P565L |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Tenm3 |
T |
G |
8: 48,796,441 (GRCm39) |
I455L |
possibly damaging |
Het |
| Tmem267 |
T |
C |
13: 120,070,767 (GRCm39) |
S141P |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,925,848 (GRCm39) |
D1383V |
probably damaging |
Het |
| Usp9y |
G |
T |
Y: 1,454,199 (GRCm39) |
Q23K |
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,241 (GRCm39) |
I30T |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,015 (GRCm39) |
L222P |
probably damaging |
Het |
| Zfp950 |
T |
A |
19: 61,108,863 (GRCm39) |
K73N |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-07-14 |
Incidental Mutation