Incidental Mutation 'R1491:Rgsl1'
ID |
163698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgsl1
|
Ensembl Gene |
ENSMUSG00000042641 |
Gene Name |
regulator of G-protein signaling like 1 |
Synonyms |
4930415K13Rik, Rgsl2 |
MMRRC Submission |
039543-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1491 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 153701672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 261
(P261S)
|
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: P261S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135642 Gene: ENSMUSG00000042641 AA Change: P261S
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
AA Change: P296S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139340 Gene: ENSMUSG00000042641 AA Change: P296S
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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730018C14Rik |
T |
A |
12: 112,381,489 (GRCm39) |
|
noncoding transcript |
Het |
Acss3 |
A |
G |
10: 106,773,169 (GRCm39) |
S606P |
probably benign |
Het |
Adamts13 |
C |
T |
2: 26,868,327 (GRCm39) |
T146M |
probably damaging |
Het |
Adora2b |
G |
A |
11: 62,156,363 (GRCm39) |
V271M |
probably benign |
Het |
Agpat5 |
A |
G |
8: 18,896,739 (GRCm39) |
Y55C |
probably damaging |
Het |
AI987944 |
A |
C |
7: 41,023,772 (GRCm39) |
Y402* |
probably null |
Het |
Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
Arfgap2 |
A |
G |
2: 91,105,204 (GRCm39) |
K423E |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,522,302 (GRCm39) |
S575T |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,008,198 (GRCm39) |
I40V |
possibly damaging |
Het |
Arhgef7 |
T |
C |
8: 11,869,733 (GRCm39) |
|
probably null |
Het |
Arid1a |
C |
A |
4: 133,448,237 (GRCm39) |
S477I |
unknown |
Het |
Armc7 |
T |
C |
11: 115,367,029 (GRCm39) |
V58A |
probably damaging |
Het |
Arrdc5 |
A |
T |
17: 56,601,222 (GRCm39) |
I301N |
probably damaging |
Het |
Capn15 |
G |
A |
17: 26,183,453 (GRCm39) |
P343S |
probably damaging |
Het |
Catspere2 |
C |
T |
1: 177,843,495 (GRCm39) |
T69I |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cgn |
C |
T |
3: 94,670,535 (GRCm39) |
R1002Q |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,414,449 (GRCm39) |
I759N |
possibly damaging |
Het |
Cops5 |
A |
G |
1: 10,104,243 (GRCm39) |
V166A |
possibly damaging |
Het |
Cramp1 |
G |
T |
17: 25,191,323 (GRCm39) |
T1046K |
probably benign |
Het |
Cthrc1 |
T |
G |
15: 38,950,072 (GRCm39) |
V143G |
probably damaging |
Het |
Cul9 |
G |
A |
17: 46,849,490 (GRCm39) |
Q552* |
probably null |
Het |
Cyp27b1 |
A |
T |
10: 126,886,957 (GRCm39) |
D391V |
probably damaging |
Het |
Dcun1d2 |
A |
G |
8: 13,331,040 (GRCm39) |
L30S |
probably damaging |
Het |
Dsc3 |
T |
C |
18: 20,120,091 (GRCm39) |
E189G |
probably damaging |
Het |
Dst |
T |
G |
1: 34,193,675 (GRCm39) |
S295A |
probably damaging |
Het |
Dusp22 |
A |
G |
13: 30,892,798 (GRCm39) |
T192A |
probably benign |
Het |
Esp24 |
A |
T |
17: 39,349,176 (GRCm39) |
M1L |
probably null |
Het |
Evc2 |
G |
A |
5: 37,550,541 (GRCm39) |
|
probably null |
Het |
Fgd6 |
A |
G |
10: 93,880,694 (GRCm39) |
N516S |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,495,448 (GRCm39) |
I346K |
possibly damaging |
Het |
Gata3 |
A |
C |
2: 9,882,201 (GRCm39) |
V32G |
probably damaging |
Het |
Glrb |
A |
T |
3: 80,819,282 (GRCm39) |
C39S |
possibly damaging |
Het |
Gpr171 |
A |
G |
3: 59,005,016 (GRCm39) |
V253A |
probably benign |
Het |
Hdac5 |
A |
G |
11: 102,092,079 (GRCm39) |
V670A |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,266,980 (GRCm39) |
S1085G |
probably benign |
Het |
Hspa4l |
A |
G |
3: 40,741,226 (GRCm39) |
N746S |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,877,902 (GRCm39) |
T333A |
probably benign |
Het |
Ippk |
T |
C |
13: 49,615,069 (GRCm39) |
V484A |
probably benign |
Het |
Jmjd8 |
A |
T |
17: 26,048,266 (GRCm39) |
T33S |
possibly damaging |
Het |
Kctd19 |
T |
A |
8: 106,113,694 (GRCm39) |
I660L |
possibly damaging |
Het |
Lrat |
A |
G |
3: 82,810,649 (GRCm39) |
V124A |
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,502,358 (GRCm39) |
I281V |
probably benign |
Het |
Mast2 |
T |
A |
4: 116,173,688 (GRCm39) |
I455F |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,560,255 (GRCm39) |
L683P |
probably benign |
Het |
Myo15b |
C |
A |
11: 115,777,683 (GRCm39) |
|
probably null |
Het |
Ncam1 |
T |
C |
9: 49,416,849 (GRCm39) |
E814G |
probably benign |
Het |
Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
Or13a20 |
T |
G |
7: 140,232,650 (GRCm39) |
Y253D |
probably damaging |
Het |
Or9a2 |
T |
C |
6: 41,748,456 (GRCm39) |
Y259C |
possibly damaging |
Het |
P2ry13 |
T |
C |
3: 59,116,939 (GRCm39) |
K280E |
probably damaging |
Het |
Paqr8 |
C |
A |
1: 21,005,048 (GRCm39) |
F67L |
probably benign |
Het |
Pfkfb3 |
G |
T |
2: 11,498,747 (GRCm39) |
R37S |
probably damaging |
Het |
Phf14 |
A |
G |
6: 11,941,478 (GRCm39) |
D310G |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,602,286 (GRCm39) |
S26G |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,755,147 (GRCm39) |
I1684F |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,488,637 (GRCm39) |
V621A |
probably benign |
Het |
Plvap |
T |
C |
8: 71,964,116 (GRCm39) |
N82S |
probably damaging |
Het |
Pomgnt2 |
A |
G |
9: 121,811,326 (GRCm39) |
V485A |
probably damaging |
Het |
Psmd9 |
A |
G |
5: 123,366,410 (GRCm39) |
E14G |
probably benign |
Het |
Pwwp2b |
A |
G |
7: 138,835,879 (GRCm39) |
E440G |
probably damaging |
Het |
Rasgrp1 |
G |
A |
2: 117,113,100 (GRCm39) |
Q771* |
probably null |
Het |
Rft1 |
C |
T |
14: 30,388,744 (GRCm39) |
Q223* |
probably null |
Het |
Rgs22 |
C |
A |
15: 36,093,047 (GRCm39) |
V409F |
probably damaging |
Het |
Rpl7a |
A |
G |
2: 26,801,127 (GRCm39) |
N38S |
probably damaging |
Het |
Sh3rf2 |
T |
A |
18: 42,187,004 (GRCm39) |
F41Y |
probably damaging |
Het |
Spata6 |
T |
A |
4: 111,603,388 (GRCm39) |
S34R |
probably damaging |
Het |
Sult2a3 |
A |
T |
7: 13,856,867 (GRCm39) |
Y18N |
probably benign |
Het |
Tapt1 |
A |
G |
5: 44,375,444 (GRCm39) |
|
probably null |
Het |
Tex2 |
A |
T |
11: 106,394,466 (GRCm39) |
C615S |
possibly damaging |
Het |
Trim43b |
T |
C |
9: 88,969,665 (GRCm39) |
K261R |
possibly damaging |
Het |
Unc5c |
T |
A |
3: 141,495,583 (GRCm39) |
M484K |
probably damaging |
Het |
Vezf1 |
T |
A |
11: 87,964,573 (GRCm39) |
S242T |
probably damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,997,034 (GRCm39) |
Y230C |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,965 (GRCm39) |
S149P |
probably damaging |
Het |
Wfdc1 |
T |
A |
8: 120,393,405 (GRCm39) |
|
probably null |
Het |
Zfp975 |
T |
C |
7: 42,312,236 (GRCm39) |
T126A |
probably benign |
Het |
Zmym4 |
T |
C |
4: 126,776,105 (GRCm39) |
|
probably null |
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 |
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'- GGCTTCGCTTGAGAGACTTCTTGAC -3'
(R):5'- ATCCAGAGCTACTGGCTTCCCAAC -3'
Sequencing Primer
(F):5'- CTTGAGAGACTTCTTGACAACCAG -3'
(R):5'- CTTTTACACCCATGCCAAGATG -3'
|
Posted On |
2014-03-28 |