Incidental Mutation 'R0726:Rgsl1'
| ID |
63738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
038908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0726 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153678074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 118
(S118N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000141249]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124558
AA Change: S798N
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: S798N
| 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 damaging
Transcript: ENSMUST00000141249
AA Change: S118N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: S118N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185164
AA Change: S833N
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: S833N
| 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
|
| Meta Mutation Damage Score |
0.1557 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 89.2%
|
| Validation Efficiency |
98% (90/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
G |
7: 143,425,498 (GRCm39) |
D49G |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,850 (GRCm39) |
Y256C |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,241,021 (GRCm39) |
D160V |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,373,941 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,705,119 (GRCm39) |
A729S |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,104,463 (GRCm39) |
V503A |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,353 (GRCm39) |
|
probably benign |
Het |
| Braf |
C |
T |
6: 39,639,082 (GRCm39) |
R223Q |
possibly damaging |
Het |
| Cd101 |
A |
T |
3: 100,927,938 (GRCm39) |
S48T |
possibly damaging |
Het |
| Cdh9 |
T |
G |
15: 16,831,130 (GRCm39) |
D322E |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 8,014,495 (GRCm39) |
|
probably null |
Het |
| Cpxm1 |
G |
A |
2: 130,232,859 (GRCm39) |
R712W |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,939,637 (GRCm39) |
|
probably benign |
Het |
| Cyp2d37-ps |
A |
C |
15: 82,574,650 (GRCm39) |
|
noncoding transcript |
Het |
| Cyth3 |
T |
C |
5: 143,678,397 (GRCm39) |
V115A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,856,507 (GRCm39) |
V2885M |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,889,180 (GRCm39) |
Y326* |
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,033 (GRCm39) |
I1844T |
probably benign |
Het |
| Fam20a |
T |
A |
11: 109,568,020 (GRCm39) |
N357Y |
probably damaging |
Het |
| Fancc |
C |
A |
13: 63,471,225 (GRCm39) |
R385L |
probably benign |
Het |
| Foxe3 |
A |
T |
4: 114,782,447 (GRCm39) |
L255H |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,427,047 (GRCm39) |
D2967G |
possibly damaging |
Het |
| Gabra6 |
T |
G |
11: 42,205,954 (GRCm39) |
T301P |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,657,412 (GRCm39) |
|
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnj9 |
G |
A |
1: 172,153,488 (GRCm39) |
S212F |
probably damaging |
Het |
| Kif15 |
C |
A |
9: 122,788,993 (GRCm39) |
H62N |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,647 (GRCm39) |
D106G |
probably damaging |
Het |
| Krtap13-1 |
T |
A |
16: 88,526,192 (GRCm39) |
S139T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,131 (GRCm39) |
N354K |
probably benign |
Het |
| Lypd3 |
G |
T |
7: 24,337,969 (GRCm39) |
E112* |
probably null |
Het |
| Med13l |
A |
T |
5: 118,886,749 (GRCm39) |
N1550I |
probably damaging |
Het |
| Mettl2 |
C |
T |
11: 105,017,670 (GRCm39) |
P60L |
probably benign |
Het |
| Mtcl2 |
G |
T |
2: 156,902,182 (GRCm39) |
R278S |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,590,201 (GRCm39) |
E850G |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,626 (GRCm39) |
R739G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,039 (GRCm39) |
D584E |
probably benign |
Het |
| Nkain3 |
C |
T |
4: 20,158,388 (GRCm39) |
V162M |
possibly damaging |
Het |
| Nmrk1 |
T |
C |
19: 18,618,844 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,018,372 (GRCm39) |
|
probably benign |
Het |
| Or2n1b |
T |
C |
17: 38,459,515 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,627 (GRCm39) |
H241L |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,576,352 (GRCm39) |
N293K |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,969 (GRCm39) |
V289D |
probably damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,418 (GRCm39) |
M151K |
possibly damaging |
Het |
| Otulinl |
A |
T |
15: 27,657,033 (GRCm39) |
I338N |
probably damaging |
Het |
| Phex |
T |
A |
X: 156,155,557 (GRCm39) |
|
probably benign |
Het |
| Pip5k1b |
G |
T |
19: 24,356,256 (GRCm39) |
D227E |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,914 (GRCm39) |
I119T |
unknown |
Het |
| Rab19 |
G |
T |
6: 39,360,893 (GRCm39) |
V14L |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,630,118 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,000,365 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,425,048 (GRCm39) |
T188A |
probably damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,257,201 (GRCm39) |
E506K |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,675,803 (GRCm39) |
K1014N |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,611,435 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
T |
C |
15: 55,539,752 (GRCm39) |
R361G |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,275 (GRCm39) |
I208N |
probably damaging |
Het |
| Tas2r102 |
T |
A |
6: 132,739,415 (GRCm39) |
W108R |
probably damaging |
Het |
| Tcl1 |
A |
G |
12: 105,184,929 (GRCm39) |
Y94H |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,629 (GRCm39) |
Y1986F |
probably damaging |
Het |
| Tet2 |
G |
A |
3: 133,173,945 (GRCm39) |
P1439L |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,563,108 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
G |
A |
3: 89,928,553 (GRCm39) |
T526M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ushbp1 |
T |
A |
8: 71,841,391 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,915,169 (GRCm39) |
R115C |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,186 (GRCm39) |
D461N |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,265 (GRCm39) |
F784I |
probably damaging |
Het |
| Zfp59 |
A |
T |
7: 27,553,513 (GRCm39) |
I322F |
probably damaging |
Het |
| Zfp607a |
A |
T |
7: 27,578,574 (GRCm39) |
H548L |
probably benign |
Het |
| Zfp626 |
G |
A |
7: 27,518,048 (GRCm39) |
C343Y |
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 |
|
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'- TGAGAAGCACCTCTATCCAGGCAG -3'
(R):5'- TTCCCTCACCCTCAAAATGGGAGC -3'
Sequencing Primer
(F):5'- GCCTTGAAAAGTCTGGTCATC -3'
(R):5'- AGGTTTGTGGCACACACAGA -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation