Incidental Mutation 'R7275:Rgsl1'
| ID |
565490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
045358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 153679876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000124558]
[ENSMUST00000141249]
[ENSMUST00000141249]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000124558
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
| 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 null
Transcript: ENSMUST00000124558
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
| 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 null
Transcript: ENSMUST00000141249
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141249
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185164
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
| 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 |
0.9486 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
A |
12: 72,956,795 (GRCm39) |
T132S |
possibly damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,887,738 (GRCm39) |
V234A |
probably benign |
Het |
| Abtb3 |
T |
A |
10: 85,490,346 (GRCm39) |
L1004Q |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,136,511 (GRCm39) |
T361A |
possibly damaging |
Het |
| Agxt2 |
G |
A |
15: 10,358,753 (GRCm39) |
R24H |
probably benign |
Het |
| Asb16 |
G |
T |
11: 102,159,935 (GRCm39) |
W96L |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,607,969 (GRCm39) |
T486S |
probably benign |
Het |
| Bpnt2 |
C |
A |
4: 4,792,962 (GRCm39) |
G48W |
probably damaging |
Het |
| Cast |
T |
C |
13: 74,875,453 (GRCm39) |
T382A |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,014,119 (GRCm39) |
K218N |
possibly damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,291,308 (GRCm39) |
G250D |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,994,108 (GRCm39) |
V52E |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,855 (GRCm39) |
I834T |
possibly damaging |
Het |
| Cyp11b2 |
C |
A |
15: 74,725,840 (GRCm39) |
G136W |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,324,925 (GRCm39) |
V502A |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,648,054 (GRCm39) |
M610K |
unknown |
Het |
| Drosha |
G |
A |
15: 12,846,169 (GRCm39) |
V435I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,184,236 (GRCm39) |
R51* |
probably null |
Het |
| Ergic2 |
A |
T |
6: 148,096,757 (GRCm39) |
C170S |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,195,688 (GRCm39) |
|
probably null |
Het |
| Fbxw25 |
G |
T |
9: 109,483,660 (GRCm39) |
A184E |
|
Het |
| Gm4846 |
T |
A |
1: 166,314,648 (GRCm39) |
T332S |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,709,708 (GRCm39) |
N871S |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,109 (GRCm39) |
L145P |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,298,104 (GRCm39) |
S166P |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,703,333 (GRCm39) |
L676H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,289,875 (GRCm39) |
K3655* |
probably null |
Het |
| Lrrc74a |
A |
G |
12: 86,787,753 (GRCm39) |
N128S |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,848 (GRCm39) |
E648G |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,269,489 (GRCm39) |
D200E |
probably benign |
Het |
| Mttp |
T |
C |
3: 137,829,546 (GRCm39) |
D114G |
probably benign |
Het |
| Mup13 |
G |
A |
4: 61,182,752 (GRCm39) |
T101M |
probably benign |
Het |
| Neb |
T |
A |
2: 52,096,956 (GRCm39) |
T4953S |
probably benign |
Het |
| Nfasc |
A |
C |
1: 132,562,001 (GRCm39) |
L147R |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,805 (GRCm39) |
E214G |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,493,039 (GRCm39) |
N175S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,342,851 (GRCm39) |
M85L |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,815 (GRCm39) |
|
probably benign |
Het |
| Or8k22 |
C |
A |
2: 86,163,136 (GRCm39) |
C188F |
possibly damaging |
Het |
| Osbpl3 |
G |
T |
6: 50,323,410 (GRCm39) |
D224E |
probably benign |
Het |
| Osr2 |
A |
G |
15: 35,301,032 (GRCm39) |
D196G |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,442 (GRCm39) |
N405Y |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,719,177 (GRCm39) |
S571P |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,886,275 (GRCm39) |
I163N |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,038,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,971,684 (GRCm39) |
D208G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,076,581 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
T |
C |
13: 73,834,197 (GRCm39) |
D335G |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,799,497 (GRCm39) |
T113M |
probably benign |
Het |
| Speer1c |
T |
C |
5: 10,295,192 (GRCm39) |
N71D |
|
Het |
| Stxbp6 |
A |
G |
12: 44,948,786 (GRCm39) |
F108L |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,921,189 (GRCm39) |
|
probably null |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,029,618 (GRCm39) |
D326E |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,839 (GRCm39) |
S86G |
probably benign |
Het |
| Trgv3 |
A |
G |
13: 19,427,188 (GRCm39) |
T24A |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,956,048 (GRCm39) |
M1170K |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,987,146 (GRCm39) |
Q1276* |
probably null |
Het |
| Tyrp1 |
A |
G |
4: 80,755,821 (GRCm39) |
K197E |
possibly damaging |
Het |
| Ube3d |
T |
C |
9: 86,322,679 (GRCm39) |
D165G |
probably damaging |
Het |
| Zfp212 |
A |
G |
6: 47,897,678 (GRCm39) |
T7A |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,758 (GRCm39) |
T163A |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,734,576 (GRCm39) |
|
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 |
|
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 |
|
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'- ATATATCAAGGGGCCTAACAGGGAC -3'
(R):5'- AATACAGCGCTGAGAAGCAC -3'
Sequencing Primer
(F):5'- GGCCTAACAGGGACAATCTTTTG -3'
(R):5'- CGCTGAGAAGCACAGATAGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation