Incidental Mutation 'R7172:Rgsl1'
| ID |
558319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
045264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 153701966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 163
(W163G)
|
| 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: W163G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: W163G
| 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 |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185164
AA Change: W198G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: W198G
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
A |
T |
2: 122,480,238 (GRCm39) |
Y33F |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,897,189 (GRCm39) |
Q623* |
probably null |
Het |
| Abcb1a |
A |
T |
5: 8,752,399 (GRCm39) |
I457F |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,200,869 (GRCm39) |
Q716* |
probably null |
Het |
| Abhd15 |
T |
C |
11: 77,406,122 (GRCm39) |
V33A |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,157 (GRCm39) |
D108G |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 90,030,860 (GRCm39) |
|
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,281 (GRCm39) |
V314L |
probably damaging |
Het |
| Axl |
G |
T |
7: 25,486,399 (GRCm39) |
Q102K |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,851,841 (GRCm39) |
S488P |
possibly damaging |
Het |
| Cnn1 |
C |
A |
9: 22,016,790 (GRCm39) |
A126D |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,363,981 (GRCm39) |
K537* |
probably null |
Het |
| Cxcl2 |
A |
G |
5: 91,051,879 (GRCm39) |
T26A |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,931,957 (GRCm39) |
K3672* |
probably null |
Het |
| Fadd |
G |
T |
7: 144,135,908 (GRCm39) |
H73Q |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,828 (GRCm39) |
N1095D |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,218,603 (GRCm39) |
S789P |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,431,339 (GRCm39) |
V289I |
probably benign |
Het |
| Gm17728 |
A |
C |
17: 9,641,220 (GRCm39) |
D110A |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,933,429 (GRCm39) |
S45T |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,917,049 (GRCm39) |
S161P |
possibly damaging |
Het |
| Gpr89 |
C |
T |
3: 96,787,385 (GRCm39) |
|
probably null |
Het |
| Gps2 |
C |
T |
11: 69,807,262 (GRCm39) |
T306I |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,629,450 (GRCm39) |
Y936H |
possibly damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,276 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ifit2 |
G |
T |
19: 34,550,894 (GRCm39) |
A145S |
probably benign |
Het |
| Impdh2 |
G |
T |
9: 108,437,809 (GRCm39) |
C26F |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,100 (GRCm39) |
Y552H |
possibly damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,576,691 (GRCm39) |
M254K |
probably damaging |
Het |
| Klhdc9 |
A |
T |
1: 171,188,228 (GRCm39) |
M1K |
probably null |
Het |
| Klk1b11 |
A |
T |
7: 43,648,671 (GRCm39) |
D194V |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,540 (GRCm39) |
I2264V |
|
Het |
| Lmntd2 |
A |
G |
7: 140,793,554 (GRCm39) |
S111P |
unknown |
Het |
| Megf8 |
T |
C |
7: 25,043,092 (GRCm39) |
L1338P |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,321 (GRCm39) |
E127K |
possibly damaging |
Het |
| Mmp25 |
A |
T |
17: 23,863,762 (GRCm39) |
C23S |
probably benign |
Het |
| Mup8 |
A |
T |
4: 60,222,425 (GRCm39) |
C15* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,079,527 (GRCm39) |
T995S |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,483,621 (GRCm39) |
V863I |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,052 (GRCm39) |
|
probably null |
Het |
| Nat10 |
G |
T |
2: 103,563,314 (GRCm39) |
P562T |
probably damaging |
Het |
| Nedd9 |
C |
G |
13: 41,470,280 (GRCm39) |
R291P |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,781,617 (GRCm39) |
H613Q |
probably benign |
Het |
| Ntn1 |
A |
T |
11: 68,276,493 (GRCm39) |
C152S |
probably damaging |
Het |
| Or2av9 |
T |
A |
11: 58,380,571 (GRCm39) |
I337F |
unknown |
Het |
| Pam |
A |
T |
1: 97,762,203 (GRCm39) |
D793E |
probably benign |
Het |
| Patz1 |
T |
G |
11: 3,258,032 (GRCm39) |
V631G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,338,597 (GRCm39) |
V1068M |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,193 (GRCm39) |
V230A |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,752,343 (GRCm39) |
F151S |
possibly damaging |
Het |
| Pygo2 |
G |
A |
3: 89,339,943 (GRCm39) |
V114I |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,156 (GRCm39) |
S220R |
probably benign |
Het |
| Rdh7 |
T |
G |
10: 127,724,218 (GRCm39) |
S89R |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,002 (GRCm39) |
N3783I |
probably damaging |
Het |
| Shld2 |
G |
A |
14: 33,959,525 (GRCm39) |
T819I |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,623,105 (GRCm39) |
L644P |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,732,896 (GRCm39) |
S43P |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,315,420 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,390 (GRCm39) |
M686V |
probably damaging |
Het |
| Tdrp |
G |
A |
8: 14,024,579 (GRCm39) |
R22* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,903,946 (GRCm39) |
V598A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,994 (GRCm39) |
E1994G |
probably damaging |
Het |
| Trcg1 |
T |
A |
9: 57,155,618 (GRCm39) |
V757E |
probably benign |
Het |
| Trim10 |
A |
G |
17: 37,180,955 (GRCm39) |
E62G |
possibly damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,841,410 (GRCm39) |
A473E |
possibly damaging |
Het |
| Vmn1r50 |
A |
C |
6: 90,084,386 (GRCm39) |
K44Q |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,838,294 (GRCm39) |
N68D |
probably damaging |
Het |
| Wdr83 |
A |
G |
8: 85,806,453 (GRCm39) |
V115A |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,845,809 (GRCm39) |
L28P |
possibly damaging |
Het |
| Zfp738 |
C |
T |
13: 67,818,527 (GRCm39) |
C488Y |
probably damaging |
Het |
| Zfp987 |
T |
G |
4: 146,058,572 (GRCm39) |
L50W |
probably damaging |
Het |
| Zfyve28 |
G |
T |
5: 34,391,753 (GRCm39) |
R133S |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,469 (GRCm39) |
C1007* |
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 |
|
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 |
|
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'- GCTCATATTTAGAGGGAGCCC -3'
(R):5'- AAAGACCTGCCACTGTGTTCC -3'
Sequencing Primer
(F):5'- GCAAACACTGTACAGGCGAGTC -3'
(R):5'- GCCACTGTGTTCCCTTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation