Incidental Mutation 'R8949:Sgsm3'
| ID |
681538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm3
|
| Ensembl Gene |
ENSMUSG00000042303 |
| Gene Name |
small G protein signaling modulator 3 |
| Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
| MMRRC Submission |
068787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R8949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80894612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 544
(Y544C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[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 |
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 |
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: ENSMUST00000137255
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139517
AA Change: Y544C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: Y544C
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118050
Gene: ENSMUSG00000042303
AA Change: Y174C
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
A |
5: 90,679,374 (GRCm39) |
C289* |
probably null |
Het |
| Agpat3 |
A |
G |
10: 78,118,989 (GRCm39) |
Y202H |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,715,479 (GRCm39) |
*394R |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,091,377 (GRCm39) |
H1037Q |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,941,238 (GRCm39) |
Y1504C |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,152 (GRCm39) |
N195S |
probably benign |
Het |
| Bmpr1b |
T |
G |
3: 141,586,203 (GRCm39) |
S20R |
possibly damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,906,860 (GRCm39) |
P651L |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,026,705 (GRCm39) |
D549E |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,130 (GRCm39) |
L210P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,581,970 (GRCm39) |
R1427L |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Dhx32 |
A |
T |
7: 133,344,470 (GRCm39) |
Y46* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,059,226 (GRCm39) |
L23P |
possibly damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,518 (GRCm39) |
V135E |
probably damaging |
Het |
| Eef2k |
A |
T |
7: 120,491,211 (GRCm39) |
I2F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,396,926 (GRCm39) |
|
probably null |
Het |
| Hr |
T |
C |
14: 70,795,328 (GRCm39) |
I320T |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,100,017 (GRCm39) |
I288V |
probably benign |
Het |
| Ighv1-31 |
T |
C |
12: 114,793,036 (GRCm39) |
I67V |
probably benign |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,703 (GRCm39) |
Y88C |
unknown |
Het |
| Ksr2 |
T |
C |
5: 117,823,560 (GRCm39) |
C446R |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,221,929 (GRCm39) |
W1537R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,425,405 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,882 (GRCm39) |
H288R |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,668,714 (GRCm39) |
V136A |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,432,221 (GRCm39) |
|
probably null |
Het |
| Ndufv3 |
A |
G |
17: 31,746,742 (GRCm39) |
K211E |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,158 (GRCm39) |
|
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,251,971 (GRCm39) |
E396G |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,379 (GRCm39) |
F276L |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,490 (GRCm39) |
M1K |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,976,075 (GRCm39) |
I344K |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,938,699 (GRCm39) |
|
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,161,964 (GRCm39) |
E307G |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,931,296 (GRCm39) |
Q498H |
probably benign |
Het |
| Smpdl3b |
T |
C |
4: 132,473,814 (GRCm39) |
K84E |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,123,753 (GRCm39) |
F3086L |
probably benign |
Het |
| Spcs2 |
A |
G |
7: 99,493,923 (GRCm39) |
S186P |
probably benign |
Het |
| Speer4e2 |
C |
T |
5: 15,026,212 (GRCm39) |
|
probably null |
Het |
| Steap1 |
A |
T |
5: 5,789,940 (GRCm39) |
D24E |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,604 (GRCm39) |
E3328G |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,054 (GRCm39) |
|
probably null |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,399 (GRCm39) |
V358A |
probably benign |
Het |
| Tecrl |
C |
T |
5: 83,461,154 (GRCm39) |
R101Q |
probably benign |
Het |
| Tmem184a |
C |
A |
5: 139,791,311 (GRCm39) |
A426S |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,927,087 (GRCm39) |
D813G |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,547,182 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,975 (GRCm39) |
I547T |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,920 (GRCm39) |
D24G |
possibly damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,287 (GRCm39) |
R792H |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,944 (GRCm39) |
D338G |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,450,771 (GRCm39) |
R114C |
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 |
|
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 |
|
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'- ATGCCTGTCCTGCTTGAAGG -3'
(R):5'- GGGACCAATTGTGATCACCTCC -3'
Sequencing Primer
(F):5'- CTGGTTTCCAGCCAAGTTTG -3'
(R):5'- TTGTGATCACCTCCTCGATAAACAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation