Incidental Mutation 'R5234:Sgsm3'
ID |
398247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm3
|
Ensembl Gene |
ENSMUSG00000042303 |
Gene Name |
small G protein signaling modulator 3 |
Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
MMRRC Submission |
042806-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R5234 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80892145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 238
(S238C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000139517]
[ENSMUST00000137004]
[ENSMUST00000137255]
[ENSMUST00000143147]
[ENSMUST00000149582]
[ENSMUST00000229727]
[ENSMUST00000228971]
|
AlphaFold |
Q8VCZ6 |
PDB Structure |
Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042506
AA Change: S248C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043311 Gene: ENSMUSG00000103565 AA Change: S248C
Domain | Start | End | E-Value | Type |
TBC
|
121 |
338 |
3.6e-62 |
SMART |
low complexity region
|
391 |
401 |
N/A |
INTRINSIC |
SH3
|
493 |
548 |
6.34e-19 |
SMART |
RUN
|
664 |
726 |
1.29e-21 |
SMART |
|
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 |
unknown
Transcript: ENSMUST00000124845
AA Change: S165C
|
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 |
noncoding transcript
Transcript: ENSMUST00000132039
|
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 |
noncoding transcript
Transcript: ENSMUST00000138550
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139517
AA Change: S238C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122543 Gene: ENSMUSG00000042303 AA Change: S238C
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 |
noncoding transcript
Transcript: ENSMUST00000149345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134511
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137255
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143147
|
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: 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: ENSMUST00000229727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230118
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228971
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
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 |
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 |
R7730:Sgsm3
|
UTSW |
15 |
80,892,927 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCAACCAGCCTGAAGAGGTG -3'
(R):5'- GCAACGTAAGCCACATGAGC -3'
Sequencing Primer
(F):5'- AAGAGGTGTGCCGAGTATCTATCC -3'
(R):5'- CTCGAAACCTTGGAGCTCAGAG -3'
|
Posted On |
2016-07-06 |