Incidental Mutation 'R7851:Sgsm3'
| ID |
606959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm3
|
| Ensembl Gene |
ENSMUSG00000042303 |
| Gene Name |
small G protein signaling modulator 3 |
| Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
| MMRRC Submission |
045904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R7851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80894954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 607
(V607M)
|
| 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 |
|
| 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: V607M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: V607M
| 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 |
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: ENSMUST00000228971
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229727
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,300,838 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
A |
T |
11: 94,250,486 (GRCm39) |
L905* |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,687 (GRCm39) |
D401A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,799,444 (GRCm39) |
K918E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,468,034 (GRCm39) |
N1722S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,498,409 (GRCm39) |
I481V |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,279 (GRCm39) |
I756T |
possibly damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
A |
G |
17: 43,135,363 (GRCm39) |
|
probably null |
Het |
| Cnn3 |
T |
A |
3: 121,250,992 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,373,337 (GRCm39) |
S22L |
possibly damaging |
Het |
| Coq6 |
A |
T |
12: 84,418,929 (GRCm39) |
H311L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,137 (GRCm39) |
N350S |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,600 (GRCm39) |
N253K |
probably benign |
Het |
| Dok7 |
T |
A |
5: 35,214,280 (GRCm39) |
M1K |
probably null |
Het |
| Eogt |
T |
A |
6: 97,097,162 (GRCm39) |
E313D |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,951 (GRCm39) |
S430P |
probably damaging |
Het |
| Gfod2 |
T |
A |
8: 106,454,762 (GRCm39) |
E39D |
probably benign |
Het |
| Gfral |
T |
C |
9: 76,112,737 (GRCm39) |
N65D |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,595 (GRCm39) |
L62* |
probably null |
Het |
| Gyg1 |
T |
G |
3: 20,176,911 (GRCm39) |
M360L |
probably benign |
Het |
| Hsp90ab1 |
A |
T |
17: 45,881,378 (GRCm39) |
S255T |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,734,497 (GRCm39) |
D143E |
probably benign |
Het |
| Ipp |
C |
T |
4: 116,372,672 (GRCm39) |
Q234* |
probably null |
Het |
| Ism1 |
A |
T |
2: 139,599,185 (GRCm39) |
D386V |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,354 (GRCm39) |
T436A |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,003,494 (GRCm39) |
I125S |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,190,508 (GRCm39) |
E1003V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,043,076 (GRCm39) |
I6785F |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,436,655 (GRCm39) |
T10I |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,827 (GRCm39) |
T284A |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,915 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,428 (GRCm39) |
Y123* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,789 (GRCm39) |
V333A |
probably benign |
Het |
| Or6c5c |
G |
T |
10: 129,299,429 (GRCm39) |
V295L |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,416,945 (GRCm39) |
T86S |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,264,236 (GRCm39) |
M168K |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,227,613 (GRCm39) |
L259P |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,855 (GRCm39) |
S1350G |
probably damaging |
Het |
| Prickle1 |
G |
A |
15: 93,398,440 (GRCm39) |
T796I |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,879,843 (GRCm39) |
I138M |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,732,482 (GRCm39) |
E958G |
probably benign |
Het |
| Rcn3 |
A |
T |
7: 44,736,236 (GRCm39) |
D157E |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,412,540 (GRCm39) |
S534P |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,862 (GRCm39) |
T3371A |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,446,828 (GRCm39) |
V1399D |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,489,147 (GRCm39) |
T185A |
probably benign |
Het |
| Smurf2 |
T |
C |
11: 106,721,752 (GRCm39) |
Y581C |
probably damaging |
Het |
| Snx8 |
C |
A |
5: 140,343,914 (GRCm39) |
V101L |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,634,647 (GRCm39) |
K180M |
probably benign |
Het |
| Spire2 |
T |
A |
8: 124,083,438 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
A |
G |
11: 116,576,764 (GRCm39) |
S86P |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,609,852 (GRCm39) |
Q139* |
probably null |
Het |
| Tas2r114 |
T |
A |
6: 131,666,888 (GRCm39) |
I47F |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,747 (GRCm39) |
D19G |
probably benign |
Het |
| Terb2 |
T |
C |
2: 122,016,794 (GRCm39) |
F9L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,307 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,255 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,014 (GRCm39) |
F1001S |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,539 (GRCm39) |
T99I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,853,398 (GRCm39) |
T33S |
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 |
|
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 |
|
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'- GAAGAAGCCATCCTTGCTTGGAG -3'
(R):5'- AAGCAGCTTACCCGGTACAG -3'
Sequencing Primer
(F):5'- AGGTGATCACAATTGGTCCC -3'
(R):5'- TACAGCAGCTCTTCAGGGGTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation