Incidental Mutation 'R2176:Rgsl1'
ID |
236852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgsl1
|
Ensembl Gene |
ENSMUSG00000042641 |
Gene Name |
regulator of G-protein signaling like 1 |
Synonyms |
4930415K13Rik, Rgsl2 |
MMRRC Submission |
040178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2176 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 153701014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000185164]
|
AlphaFold |
A0A5F8MPV0 |
Predicted Effect |
probably benign
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 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
A |
5: 121,657,649 (GRCm39) |
Y548F |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,127,614 (GRCm39) |
L83P |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,344 (GRCm39) |
|
probably benign |
Het |
Casp3 |
A |
G |
8: 47,082,791 (GRCm39) |
N3S |
probably damaging |
Het |
Ccdc174 |
G |
A |
6: 91,865,070 (GRCm39) |
M109I |
probably benign |
Het |
Ccr6 |
T |
A |
17: 8,475,073 (GRCm39) |
F93I |
probably damaging |
Het |
Clvs2 |
T |
C |
10: 33,471,811 (GRCm39) |
S165G |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,320,941 (GRCm39) |
V171A |
probably benign |
Het |
Dennd5a |
C |
A |
7: 109,504,327 (GRCm39) |
|
probably null |
Het |
Dock2 |
T |
A |
11: 34,586,044 (GRCm39) |
Y546F |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,158,401 (GRCm39) |
|
probably null |
Het |
Focad |
T |
A |
4: 88,197,481 (GRCm39) |
Y625N |
unknown |
Het |
Fyb1 |
A |
G |
15: 6,609,435 (GRCm39) |
K3E |
probably damaging |
Het |
Gm14496 |
G |
A |
2: 181,633,130 (GRCm39) |
D38N |
probably benign |
Het |
Gm20403 |
T |
C |
12: 55,033,155 (GRCm39) |
T54A |
probably benign |
Het |
Gm9830 |
A |
G |
9: 44,375,556 (GRCm39) |
|
noncoding transcript |
Het |
Hectd1 |
A |
T |
12: 51,792,277 (GRCm39) |
S2487R |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,233 (GRCm39) |
L175S |
probably benign |
Het |
Inhca |
A |
G |
9: 103,136,566 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
T |
2: 83,633,599 (GRCm39) |
R983C |
probably damaging |
Het |
Kcna10 |
T |
C |
3: 107,102,032 (GRCm39) |
V221A |
probably damaging |
Het |
Kif13b |
G |
A |
14: 64,907,120 (GRCm39) |
V35I |
probably benign |
Het |
Kif6 |
G |
A |
17: 50,062,258 (GRCm39) |
E473K |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,426,042 (GRCm39) |
T452A |
probably benign |
Het |
Mllt1 |
A |
G |
17: 57,204,398 (GRCm39) |
S382P |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,757,398 (GRCm39) |
W1083R |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,333,038 (GRCm39) |
I174V |
probably damaging |
Het |
Noct |
G |
A |
3: 51,157,117 (GRCm39) |
|
probably null |
Het |
Nvl |
A |
T |
1: 180,962,639 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,250,595 (GRCm39) |
S574G |
probably benign |
Het |
Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
Or11h4 |
T |
C |
14: 50,973,681 (GRCm39) |
M313V |
probably benign |
Het |
Or4a75 |
A |
T |
2: 89,447,924 (GRCm39) |
M204K |
possibly damaging |
Het |
Pip5k1a |
A |
T |
3: 94,972,807 (GRCm39) |
S415T |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,623,741 (GRCm39) |
P785S |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,339,733 (GRCm39) |
Y1048C |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,570,720 (GRCm39) |
V337E |
probably benign |
Het |
Prkg2 |
T |
C |
5: 99,114,368 (GRCm39) |
|
probably benign |
Het |
Prl7a2 |
T |
G |
13: 27,843,089 (GRCm39) |
Y238S |
probably benign |
Het |
Psg28 |
T |
A |
7: 18,161,804 (GRCm39) |
D233V |
probably damaging |
Het |
Rad50 |
A |
G |
11: 53,589,036 (GRCm39) |
C221R |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,887,254 (GRCm39) |
|
probably benign |
Het |
Ror1 |
C |
A |
4: 100,299,071 (GRCm39) |
R815S |
probably damaging |
Het |
Rrp1b |
C |
A |
17: 32,275,534 (GRCm39) |
D360E |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,496,680 (GRCm39) |
Q3682R |
possibly damaging |
Het |
Sdr42e1 |
A |
T |
8: 118,389,616 (GRCm39) |
F342I |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,128,114 (GRCm39) |
R1337G |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,140 (GRCm39) |
V36A |
probably damaging |
Het |
Slc4a5 |
G |
A |
6: 83,239,542 (GRCm39) |
G152D |
probably damaging |
Het |
Sptbn4 |
T |
G |
7: 27,063,587 (GRCm39) |
M2280L |
probably benign |
Het |
Syngr2 |
T |
C |
11: 117,703,406 (GRCm39) |
I74T |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,878,866 (GRCm39) |
I175M |
possibly damaging |
Het |
Tmc3 |
A |
G |
7: 83,258,516 (GRCm39) |
E502G |
probably damaging |
Het |
Tph1 |
T |
A |
7: 46,311,463 (GRCm39) |
D88V |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,295,691 (GRCm39) |
K979E |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,691,934 (GRCm39) |
T799A |
probably benign |
Het |
Utf1 |
A |
G |
7: 139,523,920 (GRCm39) |
E45G |
possibly damaging |
Het |
Vmn1r208 |
A |
T |
13: 22,956,772 (GRCm39) |
C242S |
probably damaging |
Het |
Wrnip1 |
T |
C |
13: 33,004,223 (GRCm39) |
I498T |
probably damaging |
Het |
Ypel2 |
T |
A |
11: 86,862,699 (GRCm39) |
H18L |
probably benign |
Het |
Zan |
T |
G |
5: 137,420,110 (GRCm39) |
D2849A |
unknown |
Het |
Zfp647 |
A |
T |
15: 76,795,860 (GRCm39) |
F267I |
probably damaging |
Het |
Zfp786 |
G |
T |
6: 47,797,905 (GRCm39) |
H344Q |
possibly damaging |
Het |
Zswim3 |
G |
T |
2: 164,662,614 (GRCm39) |
A365S |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,830,238 (GRCm39) |
W538R |
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 |
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 |
|
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'- TGCTTCCCAATGTCTAGTGC -3'
(R):5'- GGGAATGCACTCTTTCGTCAC -3'
Sequencing Primer
(F):5'- GACTTCCTTCAGTAAGATAGCCTGAG -3'
(R):5'- CGTCACATGCTTGGTAATCGAATCTG -3'
|
Posted On |
2014-10-02 |