Incidental Mutation 'R6453:Sgsm3'
| ID |
520128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm3
|
| Ensembl Gene |
ENSMUSG00000042303 |
| Gene Name |
small G protein signaling modulator 3 |
| Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
| MMRRC Submission |
044589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R6453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80895515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 689
(S689T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000139517]
[ENSMUST00000137255]
[ENSMUST00000229727]
[ENSMUST00000135047]
[ENSMUST00000143147]
[ENSMUST00000228971]
[ENSMUST00000149582]
|
| 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 |
unknown
Transcript: ENSMUST00000124845
AA Change: S590T
|
| 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: ENSMUST00000134559
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139517
AA Change: S689T
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: S689T
| 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: ENSMUST00000137255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229727
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000156783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228971
|
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
C |
T |
17: 35,879,109 (GRCm39) |
S149L |
possibly damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,782 (GRCm39) |
D354V |
possibly damaging |
Het |
| Acta2 |
G |
A |
19: 34,224,057 (GRCm39) |
T150I |
probably damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,343 (GRCm39) |
S324T |
probably benign |
Het |
| Ankrd44 |
A |
T |
1: 54,696,863 (GRCm39) |
|
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,764 (GRCm39) |
W22R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,426,821 (GRCm39) |
V2024E |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,877,513 (GRCm39) |
H164Y |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,240,938 (GRCm39) |
K1458* |
probably null |
Het |
| Cimip1 |
A |
G |
2: 173,370,052 (GRCm39) |
Y109C |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,378,538 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,673,586 (GRCm39) |
T3P |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,686 (GRCm39) |
Y468C |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,184,795 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,173,042 (GRCm39) |
I2557T |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,620,751 (GRCm39) |
D131G |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,833,062 (GRCm39) |
S1858* |
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,917 (GRCm39) |
I700N |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,281 (GRCm39) |
Y152H |
possibly damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,563,871 (GRCm39) |
L251F |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,488,655 (GRCm39) |
G3649R |
probably damaging |
Het |
| Hormad1 |
A |
G |
3: 95,485,568 (GRCm39) |
E252G |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,410,042 (GRCm39) |
|
probably null |
Het |
| Lmcd1 |
A |
G |
6: 112,292,789 (GRCm39) |
T214A |
probably benign |
Het |
| Macrod2 |
A |
G |
2: 142,018,545 (GRCm39) |
E226G |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,448,273 (GRCm39) |
L428Q |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,167 (GRCm39) |
Y641N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,585,569 (GRCm39) |
M142K |
probably damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,871 (GRCm39) |
I276T |
probably benign |
Het |
| Parvg |
A |
T |
15: 84,213,126 (GRCm39) |
E122V |
probably null |
Het |
| Pclo |
T |
A |
5: 14,726,803 (GRCm39) |
|
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,736,759 (GRCm39) |
V933A |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Qpctl |
C |
T |
7: 18,875,222 (GRCm39) |
V337I |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,430,014 (GRCm39) |
G237S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,785,104 (GRCm39) |
W719R |
probably damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,378 (GRCm39) |
L28P |
probably damaging |
Het |
| Rbbp9 |
G |
T |
2: 144,391,054 (GRCm39) |
Q38K |
probably benign |
Het |
| Rnf169 |
C |
T |
7: 99,584,434 (GRCm39) |
M246I |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,676 (GRCm39) |
D1098G |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,253,867 (GRCm39) |
V429M |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,951,197 (GRCm39) |
D228E |
probably benign |
Het |
| Slc46a3 |
A |
G |
5: 147,823,200 (GRCm39) |
I214T |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,490 (GRCm39) |
M347V |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,781,781 (GRCm39) |
I337F |
possibly damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,616 (GRCm39) |
N1775S |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,794,208 (GRCm39) |
R1471W |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,723,751 (GRCm39) |
E1101G |
probably damaging |
Het |
| Trpm6 |
G |
A |
19: 18,807,354 (GRCm39) |
A1033T |
probably damaging |
Het |
| Ttll6 |
G |
A |
11: 96,049,553 (GRCm39) |
R757H |
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 |
|
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 |
|
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'- AGCCCCTAGAGCTTTCCATAG -3'
(R):5'- GCAAATCCAATGCCAGGGAC -3'
Sequencing Primer
(F):5'- CCATAGATGGTGCTCAGGAGCTC -3'
(R):5'- ATACTCACCTCTCTCCTAGCAGGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation