Incidental Mutation 'R6273:Rgsl1'
| ID |
507432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
044443-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153703211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 147
(V147M)
|
| 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: V147M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: V147M
| 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 |
possibly damaging
Transcript: ENSMUST00000185164
AA Change: V182M
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: V182M
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (78/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,561 (GRCm39) |
I99N |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,988,181 (GRCm39) |
I1065V |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,831 (GRCm39) |
T1027A |
probably benign |
Het |
| Atm |
G |
A |
9: 53,399,222 (GRCm39) |
P1593L |
probably benign |
Het |
| Atp13a5 |
T |
G |
16: 29,167,555 (GRCm39) |
I132L |
probably benign |
Het |
| BC035044 |
A |
G |
6: 128,867,852 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
CT |
C |
1: 173,176,691 (GRCm39) |
|
probably benign |
Homo |
| Car3 |
C |
T |
3: 14,936,677 (GRCm39) |
P247S |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,513,819 (GRCm39) |
Y160C |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,564 (GRCm39) |
V143A |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,779,369 (GRCm39) |
V393E |
probably damaging |
Het |
| Cog6 |
A |
T |
3: 52,903,473 (GRCm39) |
F142I |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,005,568 (GRCm39) |
D643V |
unknown |
Het |
| Crhr1 |
T |
G |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,656,479 (GRCm39) |
V72A |
probably damaging |
Het |
| Cwc15 |
T |
A |
9: 14,421,537 (GRCm39) |
I201K |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,559,515 (GRCm39) |
K482R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,281,476 (GRCm39) |
S2846P |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,314,347 (GRCm39) |
I4199N |
probably damaging |
Het |
| Dusp7 |
A |
G |
9: 106,251,095 (GRCm39) |
T407A |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fem1a |
T |
C |
17: 56,564,083 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,723,168 (GRCm39) |
D1150E |
probably benign |
Het |
| Gabra1 |
A |
G |
11: 42,031,138 (GRCm39) |
V264A |
probably damaging |
Het |
| Gm4131 |
T |
C |
14: 62,702,299 (GRCm39) |
E223G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,763,156 (GRCm39) |
V333A |
probably damaging |
Het |
| Gsk3b |
A |
G |
16: 38,028,408 (GRCm39) |
T289A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,301,846 (GRCm39) |
S2912P |
probably damaging |
Het |
| Htr7 |
A |
T |
19: 36,018,969 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,458,167 (GRCm39) |
T235A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,179 (GRCm39) |
D116E |
probably damaging |
Het |
| Irag1 |
G |
T |
7: 110,470,790 (GRCm39) |
H848N |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,112,117 (GRCm39) |
N753S |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,715,979 (GRCm39) |
N2054D |
probably benign |
Het |
| Mink1 |
A |
T |
11: 70,502,261 (GRCm39) |
K880* |
probably null |
Het |
| Myo15b |
T |
A |
11: 115,753,625 (GRCm39) |
L824Q |
possibly damaging |
Het |
| Napepld |
T |
C |
5: 21,870,320 (GRCm39) |
E366G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,967,819 (GRCm39) |
T2662S |
possibly damaging |
Het |
| Or2g7 |
T |
G |
17: 38,378,686 (GRCm39) |
L208R |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,833 (GRCm39) |
M118K |
possibly damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,567 (GRCm39) |
F301L |
probably benign |
Het |
| Or52p1 |
A |
G |
7: 104,267,102 (GRCm39) |
D72G |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,896,764 (GRCm39) |
V303A |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,277 (GRCm39) |
T288A |
possibly damaging |
Het |
| Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
| Panx3 |
T |
G |
9: 37,578,725 (GRCm39) |
I85L |
probably benign |
Het |
| Pate4 |
T |
C |
9: 35,519,086 (GRCm39) |
N94D |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,086,755 (GRCm39) |
M610V |
possibly damaging |
Het |
| Pik3c2b |
T |
C |
1: 132,994,449 (GRCm39) |
S138P |
probably benign |
Het |
| Pkn1 |
T |
C |
8: 84,398,899 (GRCm39) |
N696S |
probably damaging |
Het |
| Plppr2 |
A |
G |
9: 21,855,801 (GRCm39) |
E258G |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,955,453 (GRCm39) |
M538K |
probably damaging |
Het |
| Prepl |
G |
T |
17: 85,390,696 (GRCm39) |
N87K |
probably benign |
Het |
| Prkag2 |
C |
A |
5: 25,152,534 (GRCm39) |
R190L |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,861,048 (GRCm39) |
T179A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,524,279 (GRCm39) |
K490E |
possibly damaging |
Het |
| Rph3a |
A |
G |
5: 121,083,485 (GRCm39) |
I595T |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,879,259 (GRCm39) |
F582L |
possibly damaging |
Het |
| Sprr2e |
A |
G |
3: 92,260,171 (GRCm39) |
M1V |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,827 (GRCm39) |
R40S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,408,835 (GRCm39) |
V729E |
probably damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,256,630 (GRCm39) |
Y525C |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,631,649 (GRCm39) |
H383L |
possibly damaging |
Het |
| Vars1 |
T |
C |
17: 35,232,719 (GRCm39) |
L881S |
probably damaging |
Het |
| Vmn1r201 |
A |
C |
13: 22,659,385 (GRCm39) |
S200R |
probably damaging |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,759 (GRCm39) |
H643L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,133 (GRCm39) |
W147R |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,992,844 (GRCm39) |
E367G |
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,661,822 (GRCm39) |
G544S |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,259,020 (GRCm39) |
V400E |
possibly damaging |
Het |
| Zfand5 |
C |
T |
19: 21,257,060 (GRCm39) |
P147S |
probably benign |
Het |
| Zfp768 |
A |
T |
7: 126,944,319 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,763,521 (GRCm39) |
M423V |
probably benign |
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 |
|
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'- TAAGCACCATCCTAAACATGGCTG -3'
(R):5'- AGTGTGCAGCTCTCCATCTC -3'
Sequencing Primer
(F):5'- ATCCTAAACATGGCTGGTGTC -3'
(R):5'- TCTCCTGTCTGACCTGTAGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation