Incidental Mutation 'R7730:Sgsm3'
ID |
595790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm3
|
Ensembl Gene |
ENSMUSG00000042303 |
Gene Name |
small G protein signaling modulator 3 |
Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
MMRRC Submission |
045786-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R7730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80892927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 335
(N335Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000137004]
[ENSMUST00000137255]
[ENSMUST00000139517]
[ENSMUST00000143147]
[ENSMUST00000149582]
[ENSMUST00000228971]
[ENSMUST00000229727]
|
AlphaFold |
Q8VCZ6 |
PDB Structure |
Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109579
|
SMART Domains |
Protein: ENSMUSP00000105207 Gene: ENSMUSG00000042292
Domain | Start | End | E-Value | Type |
RPEL
|
15 |
40 |
2.17e-7 |
SMART |
RPEL
|
59 |
84 |
1.36e-8 |
SMART |
RPEL
|
103 |
128 |
1.03e-8 |
SMART |
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
low complexity region
|
298 |
320 |
N/A |
INTRINSIC |
low complexity region
|
340 |
365 |
N/A |
INTRINSIC |
SAP
|
385 |
419 |
4.98e-10 |
SMART |
low complexity region
|
424 |
433 |
N/A |
INTRINSIC |
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
coiled coil region
|
558 |
600 |
N/A |
INTRINSIC |
low complexity region
|
670 |
679 |
N/A |
INTRINSIC |
low complexity region
|
714 |
735 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131235
|
SMART Domains |
Protein: ENSMUSP00000120116 Gene: ENSMUSG00000042292
Domain | Start | End | E-Value | Type |
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
low complexity region
|
174 |
187 |
N/A |
INTRINSIC |
low complexity region
|
213 |
235 |
N/A |
INTRINSIC |
low complexity region
|
255 |
280 |
N/A |
INTRINSIC |
SAP
|
300 |
334 |
4.98e-10 |
SMART |
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
low complexity region
|
398 |
411 |
N/A |
INTRINSIC |
coiled coil region
|
473 |
515 |
N/A |
INTRINSIC |
low complexity region
|
585 |
594 |
N/A |
INTRINSIC |
low complexity region
|
629 |
650 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134469
|
SMART Domains |
Protein: ENSMUSP00000119530 Gene: ENSMUSG00000042292
Domain | Start | End | E-Value | Type |
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
low complexity region
|
174 |
193 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
263 |
285 |
N/A |
INTRINSIC |
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
SAP
|
350 |
384 |
4.98e-10 |
SMART |
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
coiled coil region
|
523 |
565 |
N/A |
INTRINSIC |
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137004
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137255
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139517
AA Change: N335Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122543 Gene: ENSMUSG00000042303 AA Change: N335Y
Domain | Start | End | E-Value | Type |
TBC
|
111 |
328 |
3.6e-62 |
SMART |
low complexity region
|
381 |
391 |
N/A |
INTRINSIC |
SH3
|
483 |
538 |
6.34e-19 |
SMART |
RUN
|
654 |
716 |
1.29e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143147
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149582
|
SMART Domains |
Protein: ENSMUSP00000117745 Gene: ENSMUSG00000042292
Domain | Start | End | E-Value | Type |
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
low complexity region
|
174 |
193 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
263 |
285 |
N/A |
INTRINSIC |
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
SAP
|
350 |
384 |
4.98e-10 |
SMART |
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
coiled coil region
|
523 |
565 |
N/A |
INTRINSIC |
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154904
|
SMART Domains |
Protein: ENSMUSP00000118050 Gene: ENSMUSG00000042303
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
SH3
|
114 |
169 |
6.34e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228971
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229727
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
Ap4m1 |
T |
C |
5: 138,171,077 (GRCm39) |
I59T |
probably damaging |
Het |
Brd3 |
T |
C |
2: 27,346,967 (GRCm39) |
Y389C |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,002 (GRCm39) |
M623K |
possibly damaging |
Het |
Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
Lpl |
A |
T |
8: 69,340,100 (GRCm39) |
R32* |
probably null |
Het |
Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
Uhrf2 |
T |
A |
19: 30,052,501 (GRCm39) |
C332S |
probably damaging |
Het |
Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
Zmym2 |
A |
T |
14: 57,193,638 (GRCm39) |
Y1151F |
possibly damaging |
Het |
|
Other mutations in Sgsm3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01330:Sgsm3
|
APN |
15 |
80,895,053 (GRCm39) |
unclassified |
probably benign |
|
IGL03370:Sgsm3
|
APN |
15 |
80,895,855 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0109:Sgsm3
|
UTSW |
15 |
80,893,667 (GRCm39) |
missense |
probably damaging |
0.99 |
R0267:Sgsm3
|
UTSW |
15 |
80,890,803 (GRCm39) |
missense |
probably damaging |
0.96 |
R0382:Sgsm3
|
UTSW |
15 |
80,892,515 (GRCm39) |
nonsense |
probably null |
|
R0441:Sgsm3
|
UTSW |
15 |
80,893,971 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0631:Sgsm3
|
UTSW |
15 |
80,895,937 (GRCm39) |
makesense |
probably null |
|
R0905:Sgsm3
|
UTSW |
15 |
80,895,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R1364:Sgsm3
|
UTSW |
15 |
80,892,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R1515:Sgsm3
|
UTSW |
15 |
80,894,457 (GRCm39) |
missense |
probably benign |
0.08 |
R2226:Sgsm3
|
UTSW |
15 |
80,888,069 (GRCm39) |
missense |
probably damaging |
0.96 |
R2227:Sgsm3
|
UTSW |
15 |
80,888,069 (GRCm39) |
missense |
probably damaging |
0.96 |
R2414:Sgsm3
|
UTSW |
15 |
80,890,946 (GRCm39) |
missense |
probably benign |
0.10 |
R2508:Sgsm3
|
UTSW |
15 |
80,888,073 (GRCm39) |
critical splice donor site |
probably null |
|
R4240:Sgsm3
|
UTSW |
15 |
80,895,983 (GRCm39) |
unclassified |
probably benign |
|
R4302:Sgsm3
|
UTSW |
15 |
80,894,502 (GRCm39) |
unclassified |
probably benign |
|
R4899:Sgsm3
|
UTSW |
15 |
80,890,980 (GRCm39) |
missense |
probably benign |
0.13 |
R5234:Sgsm3
|
UTSW |
15 |
80,892,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Sgsm3
|
UTSW |
15 |
80,892,200 (GRCm39) |
missense |
probably benign |
0.00 |
R5385:Sgsm3
|
UTSW |
15 |
80,892,200 (GRCm39) |
missense |
probably benign |
0.00 |
R5386:Sgsm3
|
UTSW |
15 |
80,892,200 (GRCm39) |
missense |
probably benign |
0.00 |
R5682:Sgsm3
|
UTSW |
15 |
80,895,661 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6052:Sgsm3
|
UTSW |
15 |
80,893,464 (GRCm39) |
missense |
probably benign |
|
R6349:Sgsm3
|
UTSW |
15 |
80,892,547 (GRCm39) |
missense |
probably benign |
0.00 |
R6453:Sgsm3
|
UTSW |
15 |
80,895,515 (GRCm39) |
missense |
probably damaging |
0.96 |
R6486:Sgsm3
|
UTSW |
15 |
80,895,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6591:Sgsm3
|
UTSW |
15 |
80,893,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6642:Sgsm3
|
UTSW |
15 |
80,893,901 (GRCm39) |
missense |
probably damaging |
0.99 |
R6691:Sgsm3
|
UTSW |
15 |
80,893,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6897:Sgsm3
|
UTSW |
15 |
80,893,095 (GRCm39) |
missense |
probably benign |
0.00 |
R7038:Sgsm3
|
UTSW |
15 |
80,892,576 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7390:Sgsm3
|
UTSW |
15 |
80,893,021 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7572:Sgsm3
|
UTSW |
15 |
80,891,667 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7851:Sgsm3
|
UTSW |
15 |
80,894,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R8186:Sgsm3
|
UTSW |
15 |
80,893,643 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8902:Sgsm3
|
UTSW |
15 |
80,890,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R8949:Sgsm3
|
UTSW |
15 |
80,894,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R9025:Sgsm3
|
UTSW |
15 |
80,892,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Sgsm3
|
UTSW |
15 |
80,890,935 (GRCm39) |
missense |
probably benign |
0.00 |
R9774:Sgsm3
|
UTSW |
15 |
80,890,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- GACACACTGCAGTAGTCCAG -3'
(R):5'- TCCGTGATTTGGCAAAGACAG -3'
Sequencing Primer
(F):5'- AGTAGTCCAGTCTTCATCATAGCG -3'
(R):5'- GGCAAAGACAGGGCCCAC -3'
|
Posted On |
2019-11-12 |