Incidental Mutation 'PIT4519001:Rgsl1'
| ID |
555090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4519001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153701716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 246
(Y246C)
|
| 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: Y246C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: Y246C
| 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: Y281C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: Y281C
| 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: 93.5%
- 3x: 90.9%
- 10x: 84.7%
- 20x: 70.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,217,440 (GRCm39) |
M803K |
probably benign |
Het |
| 4930590J08Rik |
C |
A |
6: 91,894,038 (GRCm39) |
N218K |
probably damaging |
Het |
| Abcc2 |
G |
A |
19: 43,807,836 (GRCm39) |
V826M |
possibly damaging |
Het |
| Abcg2 |
T |
C |
6: 58,651,792 (GRCm39) |
S395P |
probably damaging |
Het |
| Adam1b |
C |
T |
5: 121,640,010 (GRCm39) |
G345D |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,505,773 (GRCm39) |
C292S |
probably benign |
Het |
| Amd2 |
C |
A |
10: 35,586,627 (GRCm39) |
C310F |
possibly damaging |
Het |
| BC051665 |
A |
T |
13: 60,931,989 (GRCm39) |
S137T |
possibly damaging |
Het |
| Bmp1 |
A |
G |
14: 70,727,469 (GRCm39) |
F705L |
possibly damaging |
Het |
| Coil |
C |
T |
11: 88,863,552 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
G |
A |
9: 105,609,462 (GRCm39) |
P1609S |
probably benign |
Het |
| Cpt1b |
A |
T |
15: 89,303,066 (GRCm39) |
F633I |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,311,406 (GRCm39) |
D194E |
probably benign |
Het |
| Defb4 |
A |
G |
8: 19,248,752 (GRCm39) |
R2G |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,162,897 (GRCm39) |
V506A |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,558,942 (GRCm39) |
S563G |
probably benign |
Het |
| Dpp7 |
C |
A |
2: 25,242,460 (GRCm39) |
G498W |
probably damaging |
Het |
| Fam210a |
A |
T |
18: 68,409,020 (GRCm39) |
S97T |
possibly damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,520,501 (GRCm39) |
D767V |
probably damaging |
Het |
| Fgg |
A |
T |
3: 82,920,246 (GRCm39) |
N342Y |
probably damaging |
Het |
| Gimap6 |
T |
G |
6: 48,684,995 (GRCm39) |
R30S |
probably benign |
Het |
| Gm10840 |
T |
C |
11: 106,051,959 (GRCm39) |
V95A |
unknown |
Het |
| Herc3 |
T |
A |
6: 58,853,796 (GRCm39) |
I614N |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,097,556 (GRCm39) |
S1233R |
possibly damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,866,344 (GRCm39) |
K1078N |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,570,783 (GRCm39) |
E838V |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,628,302 (GRCm39) |
K17E |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,608,957 (GRCm39) |
R1538W |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,005,424 (GRCm39) |
T296I |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,784,171 (GRCm39) |
S1054G |
probably benign |
Het |
| Or10ac1 |
T |
C |
6: 42,515,534 (GRCm39) |
T141A |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,578 (GRCm39) |
C138R |
probably damaging |
Het |
| Or5b109 |
A |
C |
19: 13,212,216 (GRCm39) |
I201L |
probably benign |
Het |
| Or6f1 |
T |
C |
7: 85,970,941 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pipox |
C |
A |
11: 77,774,001 (GRCm39) |
W205L |
probably damaging |
Het |
| Plin4 |
T |
G |
17: 56,410,828 (GRCm39) |
T1068P |
probably benign |
Het |
| Pou6f2 |
A |
G |
13: 18,414,149 (GRCm39) |
S209P |
unknown |
Het |
| Ptpdc1 |
T |
C |
13: 48,736,632 (GRCm39) |
T713A |
probably benign |
Het |
| Rnf19b |
C |
T |
4: 128,969,446 (GRCm39) |
A354V |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,126 (GRCm39) |
T346A |
probably benign |
Het |
| Rsrc2 |
T |
C |
5: 123,883,135 (GRCm39) |
T16A |
unknown |
Het |
| Scrn3 |
T |
C |
2: 73,148,768 (GRCm39) |
V113A |
possibly damaging |
Het |
| Scrn3 |
T |
A |
2: 73,161,347 (GRCm39) |
I311K |
possibly damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Sin3a |
A |
G |
9: 57,002,740 (GRCm39) |
I211V |
possibly damaging |
Het |
| Strn3 |
T |
C |
12: 51,680,491 (GRCm39) |
T370A |
probably benign |
Het |
| Sulf1 |
T |
G |
1: 12,918,395 (GRCm39) |
N786K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,597,118 (GRCm39) |
Y352* |
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,634,297 (GRCm39) |
N126K |
probably benign |
Het |
| Tjap1 |
C |
A |
17: 46,572,432 (GRCm39) |
R68L |
probably benign |
Het |
| Tnfsf12 |
C |
T |
11: 69,586,230 (GRCm39) |
R66Q |
probably benign |
Het |
| Traj45 |
A |
G |
14: 54,410,303 (GRCm39) |
D6G |
|
Het |
| Trappc9 |
T |
C |
15: 72,824,943 (GRCm39) |
T541A |
probably benign |
Het |
| Ttc29 |
A |
C |
8: 79,052,106 (GRCm39) |
E329A |
probably benign |
Het |
| Vmn1r117 |
T |
G |
7: 20,617,160 (GRCm39) |
D296A |
possibly damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,765 (GRCm39) |
N182S |
probably benign |
Het |
| Vps53 |
C |
A |
11: 76,007,999 (GRCm39) |
R287L |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,079,783 (GRCm39) |
N334S |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,687 (GRCm39) |
H282R |
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 |
|
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 |
|
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'- AGTCCTTGCACAGGGAATGG -3'
(R):5'- GCAGAAAGTGGCTTTGTTCAAAATC -3'
Sequencing Primer
(F):5'- CACAGGGAATGGATTATTGTCTCC -3'
(R):5'- GTGGCTTTGTTCAAAATCCAGAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation