Incidental Mutation 'R1364:Sgsm3'
| ID |
162864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm3
|
| Ensembl Gene |
ENSMUSG00000042303 |
| Gene Name |
small G protein signaling modulator 3 |
| Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
| MMRRC Submission |
039429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R1364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80892143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 237
(F237S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000139517]
[ENSMUST00000137004]
[ENSMUST00000149582]
[ENSMUST00000228971]
[ENSMUST00000137255]
[ENSMUST00000229727]
[ENSMUST00000143147]
|
| 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: F247S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565
AA Change: F247S
| 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: F164S
|
| 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 |
probably damaging
Transcript: ENSMUST00000139517
AA Change: F237S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: F237S
| 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: ENSMUST00000138550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149345
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000230118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228971
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137255
|
| 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: ENSMUST00000229727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143147
|
| Meta Mutation Damage Score |
0.7838 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,825,443 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,687 (GRCm39) |
T643A |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Ripk3 |
A |
C |
14: 56,022,717 (GRCm39) |
|
probably null |
Het |
| Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,408,597 (GRCm39) |
I54V |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAACCAGCCTGAAGAGGTGTG -3'
(R):5'- AGCGTGATAAGAGACAGCTCTGCC -3'
Sequencing Primer
(F):5'- GCCGAGTATCTATCCTAGAATAGAGC -3'
(R):5'- ggggaggggaggggaag -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation