Incidental Mutation 'R2008:Rgsl1'
ID |
219132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgsl1
|
Ensembl Gene |
ENSMUSG00000042641 |
Gene Name |
regulator of G-protein signaling like 1 |
Synonyms |
4930415K13Rik, Rgsl2 |
MMRRC Submission |
040017-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2008 (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 153701651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 268
(T268S)
|
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: T268S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135642 Gene: ENSMUSG00000042641 AA Change: T268S
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: T303S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000139340 Gene: ENSMUSG00000042641 AA Change: T303S
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
A |
4: 148,026,034 (GRCm39) |
C185S |
probably benign |
Het |
Acsbg3 |
A |
G |
17: 57,193,478 (GRCm39) |
N608S |
probably benign |
Het |
Actl6b |
T |
A |
5: 137,567,592 (GRCm39) |
S409T |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,080,074 (GRCm39) |
V50D |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,021,013 (GRCm39) |
T604A |
probably damaging |
Het |
Adprs |
T |
A |
4: 126,211,137 (GRCm39) |
D260V |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,010,131 (GRCm39) |
E296G |
possibly damaging |
Het |
Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,831 (GRCm39) |
W236R |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,909,271 (GRCm39) |
D1155G |
probably damaging |
Het |
Atp2c1 |
T |
A |
9: 105,309,925 (GRCm39) |
T551S |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,517,996 (GRCm39) |
C281S |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,570,810 (GRCm39) |
|
probably null |
Het |
Capn9 |
T |
G |
8: 125,318,424 (GRCm39) |
C97G |
probably damaging |
Het |
Cbfa2t3 |
A |
G |
8: 123,370,032 (GRCm39) |
V147A |
probably damaging |
Het |
Ccdc83 |
T |
A |
7: 89,893,349 (GRCm39) |
Y136F |
probably damaging |
Het |
Cdh6 |
C |
A |
15: 13,051,562 (GRCm39) |
R357L |
possibly damaging |
Het |
Celf1 |
A |
T |
2: 90,840,753 (GRCm39) |
N367I |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,790,467 (GRCm39) |
I1363V |
probably benign |
Het |
Cfap299 |
C |
T |
5: 98,885,561 (GRCm39) |
T156I |
possibly damaging |
Het |
Colec12 |
T |
A |
18: 9,874,813 (GRCm39) |
D696E |
probably benign |
Het |
Ctbp1 |
C |
T |
5: 33,408,330 (GRCm39) |
E138K |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,382,589 (GRCm39) |
I293T |
probably damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dctn1 |
C |
T |
6: 83,166,938 (GRCm39) |
T263I |
probably damaging |
Het |
Ddx49 |
A |
T |
8: 70,748,094 (GRCm39) |
V317E |
probably damaging |
Het |
Edil3 |
G |
A |
13: 89,093,072 (GRCm39) |
|
probably null |
Het |
Egflam |
A |
T |
15: 7,267,285 (GRCm39) |
V700E |
possibly damaging |
Het |
Fam168b |
A |
G |
1: 34,858,946 (GRCm39) |
|
probably null |
Het |
Gigyf2 |
T |
G |
1: 87,301,835 (GRCm39) |
|
probably null |
Het |
H1f2 |
C |
G |
13: 23,923,392 (GRCm39) |
S187R |
probably benign |
Het |
Heatr4 |
A |
G |
12: 84,026,514 (GRCm39) |
S248P |
probably benign |
Het |
Hoxd1 |
A |
T |
2: 74,594,524 (GRCm39) |
I260F |
possibly damaging |
Het |
Hsd3b3 |
A |
T |
3: 98,649,408 (GRCm39) |
L305Q |
probably damaging |
Het |
Itch |
T |
A |
2: 155,052,379 (GRCm39) |
C660S |
possibly damaging |
Het |
Ivd |
A |
T |
2: 118,701,981 (GRCm39) |
I138F |
probably benign |
Het |
Katnip |
C |
G |
7: 125,459,738 (GRCm39) |
H1189D |
probably damaging |
Het |
Lcn4 |
G |
T |
2: 26,561,228 (GRCm39) |
Q18K |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,843,146 (GRCm39) |
Y192H |
probably damaging |
Het |
Mn1 |
T |
C |
5: 111,566,723 (GRCm39) |
L231P |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,386,009 (GRCm39) |
D544G |
probably benign |
Het |
Mthfd1 |
C |
A |
12: 76,344,293 (GRCm39) |
T331K |
probably damaging |
Het |
Myo18b |
T |
A |
5: 113,021,423 (GRCm39) |
Y546F |
probably benign |
Het |
Nod1 |
T |
C |
6: 54,916,310 (GRCm39) |
Y129C |
probably damaging |
Het |
Nprl3 |
A |
G |
11: 32,182,973 (GRCm39) |
V563A |
probably damaging |
Het |
Or13a18 |
T |
C |
7: 140,190,498 (GRCm39) |
Y140H |
probably damaging |
Het |
Or4a80 |
A |
T |
2: 89,582,417 (GRCm39) |
C252S |
possibly damaging |
Het |
Or5g29 |
A |
G |
2: 85,421,766 (GRCm39) |
N294S |
probably damaging |
Het |
Or5p72 |
T |
C |
7: 108,022,389 (GRCm39) |
F204L |
probably benign |
Het |
Or8b1b |
T |
C |
9: 38,375,537 (GRCm39) |
S67P |
probably damaging |
Het |
Orc3 |
T |
A |
4: 34,611,049 (GRCm39) |
|
probably null |
Het |
Otog |
T |
C |
7: 45,913,498 (GRCm39) |
V777A |
probably benign |
Het |
Pbxip1 |
G |
T |
3: 89,356,020 (GRCm39) |
V711L |
probably benign |
Het |
Pcdhb16 |
A |
G |
18: 37,611,316 (GRCm39) |
D92G |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,783,096 (GRCm39) |
M964K |
probably damaging |
Het |
Pitpnm2 |
T |
A |
5: 124,290,684 (GRCm39) |
M1L |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,269,683 (GRCm39) |
V3287A |
probably damaging |
Het |
Polq |
T |
A |
16: 36,882,844 (GRCm39) |
H1669Q |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,552,016 (GRCm39) |
S195P |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,517 (GRCm39) |
Y591C |
probably damaging |
Het |
Scd2 |
A |
T |
19: 44,291,610 (GRCm39) |
T350S |
probably benign |
Het |
Scn7a |
T |
A |
2: 66,518,091 (GRCm39) |
Q1040L |
possibly damaging |
Het |
Sdhb |
T |
A |
4: 140,706,340 (GRCm39) |
L259Q |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,033,680 (GRCm39) |
H701R |
probably damaging |
Het |
Slc41a2 |
C |
T |
10: 83,140,167 (GRCm39) |
|
probably null |
Het |
Slx4 |
T |
C |
16: 3,797,785 (GRCm39) |
D1533G |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,713,271 (GRCm39) |
K367R |
possibly damaging |
Het |
Sstr3 |
G |
A |
15: 78,424,711 (GRCm39) |
T12M |
probably benign |
Het |
Synj2 |
G |
T |
17: 6,047,221 (GRCm39) |
E20D |
probably damaging |
Het |
Tchh |
G |
T |
3: 93,353,281 (GRCm39) |
R907L |
unknown |
Het |
Thsd1 |
A |
G |
8: 22,749,247 (GRCm39) |
E645G |
probably benign |
Het |
Tmem176b |
A |
T |
6: 48,812,383 (GRCm39) |
M194K |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,739,265 (GRCm39) |
|
probably null |
Het |
Trim44 |
G |
A |
2: 102,230,722 (GRCm39) |
|
probably benign |
Het |
Triml1 |
T |
A |
8: 43,583,642 (GRCm39) |
R320W |
probably damaging |
Het |
Trmt6 |
A |
T |
2: 132,648,829 (GRCm39) |
C401* |
probably null |
Het |
Trpv5 |
T |
C |
6: 41,636,662 (GRCm39) |
|
probably null |
Het |
V1rd19 |
T |
A |
7: 23,702,726 (GRCm39) |
L64* |
probably null |
Het |
Vmn1r216 |
A |
T |
13: 23,283,661 (GRCm39) |
R115W |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,509,924 (GRCm39) |
N551S |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,450,921 (GRCm39) |
V269A |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,881,813 (GRCm39) |
V1254D |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,156,775 (GRCm39) |
|
probably null |
Het |
Zan |
T |
A |
5: 137,450,712 (GRCm39) |
T1622S |
unknown |
Het |
Zfp112 |
T |
C |
7: 23,826,176 (GRCm39) |
Y715H |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly 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 |
R1842:Rgsl1
|
UTSW |
1 |
153,675,543 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGTGAACGCTGTCTCAAGGAAG -3'
(R):5'- AGCATGCCATGGTCTGATGC -3'
Sequencing Primer
(F):5'- TGTCTCAAGGAAGCCCTCC -3'
(R):5'- CAGGAATATGAGACTCGCCTGTAC -3'
|
Posted On |
2014-08-25 |