Incidental Mutation 'R6974:Rgsl1'
| ID |
542320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgsl1
|
| Ensembl Gene |
ENSMUSG00000042641 |
| Gene Name |
regulator of G-protein signaling like 1 |
| Synonyms |
4930415K13Rik, Rgsl2 |
| MMRRC Submission |
045084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153655127-153719888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153675568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 913
(D913N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124558]
[ENSMUST00000141249]
[ENSMUST00000185164]
|
| AlphaFold |
A0A5F8MPV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124558
AA Change: D878N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: D878N
| 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 |
possibly damaging
Transcript: ENSMUST00000141249
AA Change: D198N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: D198N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
3 |
300 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185164
AA Change: D913N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: D913N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
T |
A |
12: 70,206,221 (GRCm39) |
N67K |
probably benign |
Het |
| Amotl1 |
C |
A |
9: 14,556,216 (GRCm39) |
E37* |
probably null |
Het |
| Ap4b1 |
C |
A |
3: 103,720,601 (GRCm39) |
Y90* |
probably null |
Het |
| Apc |
A |
G |
18: 34,431,480 (GRCm39) |
E277G |
possibly damaging |
Het |
| Atl1 |
T |
A |
12: 69,972,813 (GRCm39) |
H44Q |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,864 (GRCm39) |
T74M |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,469,437 (GRCm39) |
T627A |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,647,449 (GRCm39) |
I372N |
possibly damaging |
Het |
| B4galt2 |
A |
G |
4: 117,731,148 (GRCm39) |
S338P |
probably damaging |
Het |
| Cfap43 |
A |
C |
19: 47,773,717 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,362,538 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
A |
C |
9: 108,798,494 (GRCm39) |
I1741L |
possibly damaging |
Het |
| Coprs |
A |
T |
8: 13,935,750 (GRCm39) |
S90T |
probably benign |
Het |
| Csrnp3 |
T |
C |
2: 65,779,408 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ephx1 |
C |
A |
1: 180,827,287 (GRCm39) |
|
probably null |
Het |
| Erich6 |
C |
A |
3: 58,526,220 (GRCm39) |
R594L |
probably benign |
Het |
| F2rl2 |
A |
T |
13: 95,837,038 (GRCm39) |
N28Y |
probably damaging |
Het |
| Fbxo38 |
A |
T |
18: 62,639,740 (GRCm39) |
N1041K |
possibly damaging |
Het |
| Fcgr2b |
C |
T |
1: 170,790,977 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,809,061 (GRCm39) |
N1793K |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,942,169 (GRCm39) |
I133T |
probably damaging |
Het |
| Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
| Hoxa1 |
T |
A |
6: 52,135,021 (GRCm39) |
I61F |
probably damaging |
Het |
| Impact |
C |
T |
18: 13,115,169 (GRCm39) |
L102F |
probably damaging |
Het |
| Ist1 |
A |
T |
8: 110,404,284 (GRCm39) |
I196N |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,311,282 (GRCm39) |
S550T |
probably benign |
Het |
| Krt1c |
A |
T |
15: 101,726,314 (GRCm39) |
S75T |
unknown |
Het |
| Krtap21-1 |
A |
G |
16: 89,200,466 (GRCm39) |
S59P |
unknown |
Het |
| Lef1 |
A |
T |
3: 130,905,223 (GRCm39) |
I35F |
probably damaging |
Het |
| Lpcat2 |
A |
C |
8: 93,599,707 (GRCm39) |
N225T |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,538,649 (GRCm39) |
N142K |
probably benign |
Het |
| Mdh1b |
G |
A |
1: 63,760,975 (GRCm39) |
H88Y |
probably benign |
Het |
| Mettl26 |
A |
G |
17: 26,095,658 (GRCm39) |
D171G |
probably damaging |
Het |
| Mrps24 |
A |
T |
11: 5,654,663 (GRCm39) |
M97K |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,279,499 (GRCm39) |
C1020S |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,940,854 (GRCm39) |
I338K |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,479 (GRCm39) |
Y45N |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,299 (GRCm39) |
I117T |
probably benign |
Het |
| Or4p20 |
T |
C |
2: 88,254,156 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,442 (GRCm39) |
H134L |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,899,689 (GRCm39) |
I135N |
probably damaging |
Het |
| Paqr3 |
T |
A |
5: 97,256,146 (GRCm39) |
H76L |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,417,071 (GRCm39) |
Y618* |
probably null |
Het |
| Pilrb2 |
C |
T |
5: 137,870,049 (GRCm39) |
|
probably benign |
Het |
| Pkm |
A |
G |
9: 59,575,853 (GRCm39) |
N90D |
probably damaging |
Het |
| Pla2g4c |
T |
G |
7: 13,078,459 (GRCm39) |
|
probably null |
Het |
| Plppr4 |
C |
T |
3: 117,116,667 (GRCm39) |
V339I |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,510,462 (GRCm39) |
D304E |
probably damaging |
Het |
| Pnlip |
T |
C |
19: 58,668,067 (GRCm39) |
|
probably null |
Het |
| Polr2a |
A |
G |
11: 69,638,026 (GRCm39) |
C148R |
probably damaging |
Het |
| Ppp1r10 |
G |
A |
17: 36,240,443 (GRCm39) |
G578S |
probably benign |
Het |
| Ptges2 |
C |
T |
2: 32,287,683 (GRCm39) |
T137I |
possibly damaging |
Het |
| Ptpre |
T |
C |
7: 135,270,877 (GRCm39) |
V344A |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,137 (GRCm39) |
F1002L |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,960,298 (GRCm39) |
Y188* |
probably null |
Het |
| Rest |
A |
G |
5: 77,416,046 (GRCm39) |
S87G |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,928,475 (GRCm39) |
M1T |
probably null |
Het |
| Slamf8 |
T |
A |
1: 172,415,590 (GRCm39) |
N83Y |
probably damaging |
Het |
| Slc26a11 |
T |
A |
11: 119,248,844 (GRCm39) |
F75Y |
possibly damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,045,570 (GRCm39) |
S133P |
probably damaging |
Het |
| Sncb |
A |
T |
13: 54,910,487 (GRCm39) |
V83E |
probably damaging |
Het |
| Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,973,502 (GRCm39) |
N277D |
probably benign |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,628 (GRCm39) |
G70S |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,058,495 (GRCm39) |
R684G |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,187,420 (GRCm39) |
N792D |
possibly damaging |
Het |
| Wnt5a |
A |
G |
14: 28,244,527 (GRCm39) |
D238G |
possibly damaging |
Het |
| Zbtb42 |
C |
A |
12: 112,646,824 (GRCm39) |
T333K |
probably damaging |
Het |
| Zfp119b |
A |
G |
17: 56,245,564 (GRCm39) |
S509P |
probably benign |
Het |
| Zfp365 |
T |
A |
10: 67,745,594 (GRCm39) |
K61N |
probably damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,825 (GRCm39) |
F460S |
probably damaging |
Het |
| Zfp788 |
C |
T |
7: 41,299,301 (GRCm39) |
Q594* |
probably null |
Het |
| Zfp984 |
T |
A |
4: 147,845,707 (GRCm39) |
M1L |
possibly damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,347,566 (GRCm39) |
Y291* |
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 |
|
|
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'- GTCAAGCCAACTTTTGCTAGGAG -3'
(R):5'- GCAGACTGTAATTCCTTGTTGTTTC -3'
Sequencing Primer
(F):5'- CAGAGATCAATGTCTGGTGACTCC -3'
(R):5'- CTCTGTTAGATTTCTCTACATCACCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation