Incidental Mutation 'R1842:Rgsl1'
| ID |
205790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
039867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 153675543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 206
(E206V)
|
| 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: E886V
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: E886V
| 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: E206V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: E206V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185164
AA Change: E921V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: E921V
| 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: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 90.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
T |
11: 110,087,865 (GRCm39) |
N1087K |
probably benign |
Het |
| Abcc3 |
G |
A |
11: 94,250,438 (GRCm39) |
T921I |
probably benign |
Het |
| Abr |
T |
A |
11: 76,399,812 (GRCm39) |
I4F |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,330,812 (GRCm39) |
V25D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,231 (GRCm39) |
M1505K |
probably damaging |
Het |
| Alms1-ps2 |
T |
C |
6: 85,773,231 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
C |
G |
12: 8,061,559 (GRCm39) |
T3347S |
probably damaging |
Het |
| Arhgap27 |
C |
A |
11: 103,230,822 (GRCm39) |
G11W |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,393,605 (GRCm39) |
I106F |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,806 (GRCm39) |
D101V |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,188,324 (GRCm39) |
E566G |
probably benign |
Het |
| Cenpm |
T |
C |
15: 82,123,565 (GRCm39) |
S111G |
probably benign |
Het |
| Cep55 |
A |
G |
19: 38,046,348 (GRCm39) |
I34V |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,585 (GRCm39) |
L190S |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,203,200 (GRCm39) |
N703S |
probably null |
Het |
| E030025P04Rik |
G |
A |
11: 109,030,396 (GRCm39) |
L164F |
unknown |
Het |
| Efcab5 |
A |
G |
11: 77,025,701 (GRCm39) |
V538A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,422 (GRCm39) |
S177P |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,775,958 (GRCm39) |
C31S |
probably damaging |
Het |
| Eif2d |
C |
A |
1: 131,098,797 (GRCm39) |
Q532K |
probably damaging |
Het |
| Elf3 |
T |
C |
1: 135,184,531 (GRCm39) |
D175G |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,012,129 (GRCm39) |
V449A |
probably damaging |
Het |
| Fam110a |
A |
T |
2: 151,811,954 (GRCm39) |
I272N |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,768,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,058 (GRCm39) |
L132P |
probably damaging |
Het |
| Frg2f1 |
A |
T |
4: 119,388,277 (GRCm39) |
V74D |
possibly damaging |
Het |
| Gad1 |
G |
T |
2: 70,404,597 (GRCm39) |
E162D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,177,104 (GRCm39) |
V444A |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,076 (GRCm39) |
T147I |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,425,602 (GRCm39) |
I276V |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,244 (GRCm39) |
H1314R |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 118,112,544 (GRCm39) |
I836T |
probably damaging |
Het |
| Hspa5 |
A |
G |
2: 34,665,815 (GRCm39) |
D553G |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,410,631 (GRCm39) |
I194N |
probably damaging |
Het |
| Kansl3 |
A |
G |
1: 36,390,825 (GRCm39) |
V304A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 927,798 (GRCm39) |
S716L |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,409,337 (GRCm39) |
I1594T |
possibly damaging |
Het |
| Lrp2bp |
A |
G |
8: 46,464,152 (GRCm39) |
D15G |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,686,588 (GRCm39) |
L170P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,037 (GRCm39) |
F1108L |
possibly damaging |
Het |
| Mettl5 |
G |
T |
2: 69,715,686 (GRCm39) |
L6I |
unknown |
Het |
| Mfsd14a |
A |
T |
3: 116,426,057 (GRCm39) |
F447I |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,228,546 (GRCm39) |
I642V |
probably damaging |
Het |
| Necap1 |
A |
G |
6: 122,851,547 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,394,258 (GRCm39) |
E723K |
probably damaging |
Het |
| Nsun3 |
A |
T |
16: 62,596,755 (GRCm39) |
L121H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,288 (GRCm39) |
M284K |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,603,242 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
T |
18: 7,223,551 (GRCm39) |
D497E |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,759,601 (GRCm39) |
N8Y |
probably damaging |
Het |
| Or5d38 |
A |
T |
2: 87,954,471 (GRCm39) |
M286K |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,912 (GRCm39) |
E288G |
probably damaging |
Het |
| Peg10 |
A |
T |
6: 4,756,381 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
G |
A |
7: 88,099,730 (GRCm39) |
E82K |
possibly damaging |
Het |
| Saxo5 |
T |
A |
8: 3,533,668 (GRCm39) |
F295L |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,384,063 (GRCm39) |
V521I |
probably damaging |
Het |
| Sgpp1 |
C |
T |
12: 75,762,982 (GRCm39) |
V400M |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,681,891 (GRCm39) |
S152P |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,709,477 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
T |
C |
13: 59,890,320 (GRCm39) |
Y82C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,513 (GRCm39) |
K640R |
probably benign |
Het |
| Svil |
A |
G |
18: 5,062,373 (GRCm39) |
T898A |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,510 (GRCm39) |
|
probably null |
Het |
| Tomm40 |
A |
G |
7: 19,447,650 (GRCm39) |
S127P |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,649 (GRCm39) |
V493D |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,989,988 (GRCm39) |
V288A |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,558 (GRCm39) |
R2239W |
probably damaging |
Het |
| Zscan2 |
A |
C |
7: 80,525,301 (GRCm39) |
K341Q |
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 |
|
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'- TGTCAAGCCAACTTTTGCTAGG -3'
(R):5'- GCCCAAGGTCAAAGTTTAGGAC -3'
Sequencing Primer
(F):5'- CAGAGATCAATGTCTGGTGACTCC -3'
(R):5'- CAAAGCAGACTGTAATTCCTTGTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation