Incidental Mutation 'IGL03370:Sgsm3'
ID |
420275 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgsm3
|
Ensembl Gene |
ENSMUSG00000042303 |
Gene Name |
small G protein signaling modulator 3 |
Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
IGL03370
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to C
at 80895855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000139517]
[ENSMUST00000139517]
[ENSMUST00000135047]
[ENSMUST00000149582]
|
AlphaFold |
Q8VCZ6 |
PDB Structure |
Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000042506
|
SMART Domains |
Protein: ENSMUSP00000043311 Gene: ENSMUSG00000103565
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 |
probably benign
Transcript: ENSMUST00000124845
|
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: ENSMUST00000134511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149345
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139517
|
SMART Domains |
Protein: ENSMUSP00000122543 Gene: ENSMUSG00000042303
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 null
Transcript: ENSMUST00000139517
|
SMART Domains |
Protein: ENSMUSP00000122543 Gene: ENSMUSG00000042303
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: ENSMUST00000156783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138550
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135047
|
SMART Domains |
Protein: ENSMUSP00000118451 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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7b |
A |
G |
4: 56,741,173 (GRCm39) |
Y62H |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,829,881 (GRCm39) |
I296T |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,351,937 (GRCm39) |
|
probably null |
Het |
Daam2 |
G |
T |
17: 49,793,529 (GRCm39) |
D329E |
probably benign |
Het |
Defb26 |
A |
G |
2: 152,349,902 (GRCm39) |
V126A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,703,621 (GRCm39) |
I1535N |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,384,219 (GRCm39) |
Y431N |
probably benign |
Het |
Fbxw26 |
T |
G |
9: 109,575,087 (GRCm39) |
I13L |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,710,301 (GRCm39) |
H300L |
probably damaging |
Het |
Fndc3c1 |
G |
A |
X: 105,464,307 (GRCm39) |
T1277I |
probably benign |
Het |
Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,742,946 (GRCm39) |
R567H |
probably benign |
Het |
Kpna6 |
G |
A |
4: 129,549,314 (GRCm39) |
T156M |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
Lyn |
T |
C |
4: 3,780,931 (GRCm39) |
Y357H |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,297,219 (GRCm39) |
V2605A |
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,437,385 (GRCm39) |
D1023G |
probably damaging |
Het |
Muc5b |
G |
T |
7: 141,418,514 (GRCm39) |
R3820L |
probably benign |
Het |
Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
Nup188 |
A |
G |
2: 30,230,653 (GRCm39) |
Y1397C |
possibly damaging |
Het |
Pgd |
A |
T |
4: 149,249,685 (GRCm39) |
V29D |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,071,371 (GRCm39) |
S244G |
probably benign |
Het |
Rapgef5 |
C |
A |
12: 117,694,294 (GRCm39) |
T372K |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,520,306 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,586,944 (GRCm39) |
V2680E |
possibly damaging |
Het |
Slc38a1 |
C |
T |
15: 96,477,228 (GRCm39) |
V362I |
possibly damaging |
Het |
Sun1 |
T |
A |
5: 139,216,886 (GRCm39) |
D308E |
probably damaging |
Het |
Tns1 |
C |
T |
1: 74,025,053 (GRCm39) |
V387M |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,582,083 (GRCm39) |
G22937C |
probably damaging |
Het |
Ubr1 |
C |
A |
2: 120,725,641 (GRCm39) |
A1258S |
probably benign |
Het |
Vmn2r74 |
A |
G |
7: 85,607,265 (GRCm39) |
F153L |
probably benign |
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 |
|
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 |
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 |
|
Posted On |
2016-08-02 |