Incidental Mutation 'R6349:Sgsm3'
ID |
512468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm3
|
Ensembl Gene |
ENSMUSG00000042303 |
Gene Name |
small G protein signaling modulator 3 |
Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
MMRRC Submission |
044503-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R6349 (G1)
|
Quality Score |
193.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80892547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 291
(I291T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000139517]
[ENSMUST00000143147]
[ENSMUST00000137004]
[ENSMUST00000228971]
[ENSMUST00000149582]
[ENSMUST00000137255]
[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 |
unknown
Transcript: ENSMUST00000124845
AA Change: I218T
|
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 benign
Transcript: ENSMUST00000139517
AA Change: I291T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122543 Gene: ENSMUSG00000042303 AA Change: I291T
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 |
probably benign
Transcript: ENSMUST00000143147
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156064
|
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 |
noncoding transcript
Transcript: ENSMUST00000149345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134559
|
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: ENSMUST00000137255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138550
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230118
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012A03Rik |
A |
G |
6: 32,028,595 (GRCm39) |
Y9C |
probably benign |
Het |
4930433I11Rik |
A |
C |
7: 40,644,196 (GRCm39) |
M622L |
possibly damaging |
Het |
Abca8b |
C |
T |
11: 109,825,544 (GRCm39) |
|
probably null |
Het |
Adam28 |
T |
C |
14: 68,870,621 (GRCm39) |
I351V |
probably benign |
Het |
Adgrd1 |
A |
C |
5: 129,219,603 (GRCm39) |
|
probably null |
Het |
Ank3 |
T |
A |
10: 69,815,269 (GRCm39) |
I473N |
probably damaging |
Het |
Ankrd6 |
A |
T |
4: 32,822,231 (GRCm39) |
H179Q |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,863,903 (GRCm39) |
R808G |
probably damaging |
Het |
Anxa8 |
A |
T |
14: 33,819,850 (GRCm39) |
I280F |
probably damaging |
Het |
Asb2 |
C |
T |
12: 103,312,118 (GRCm39) |
M1I |
probably null |
Het |
Astn1 |
C |
T |
1: 158,491,691 (GRCm39) |
Q1023* |
probably null |
Het |
Cast |
T |
A |
13: 74,869,314 (GRCm39) |
E542D |
probably damaging |
Het |
Ccdc162 |
C |
T |
10: 41,570,396 (GRCm39) |
E30K |
probably damaging |
Het |
Ccdc87 |
T |
C |
19: 4,891,347 (GRCm39) |
V613A |
probably damaging |
Het |
Cdk13 |
T |
C |
13: 17,926,304 (GRCm39) |
N832S |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,915,885 (GRCm39) |
N696I |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,254,857 (GRCm39) |
E161G |
possibly damaging |
Het |
Cxcr4 |
C |
A |
1: 128,517,014 (GRCm39) |
V216F |
possibly damaging |
Het |
Cyp4a10 |
A |
G |
4: 115,382,555 (GRCm39) |
I282V |
probably benign |
Het |
Deaf1 |
T |
C |
7: 140,902,863 (GRCm39) |
T154A |
possibly damaging |
Het |
Dido1 |
A |
T |
2: 180,302,494 (GRCm39) |
D1803E |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
Fbxo15 |
A |
G |
18: 84,982,267 (GRCm39) |
I240V |
probably benign |
Het |
Fcrl2 |
A |
G |
3: 87,159,803 (GRCm39) |
C484R |
probably damaging |
Het |
Fech |
G |
T |
18: 64,603,856 (GRCm39) |
Y164* |
probably null |
Het |
Fer1l5 |
T |
A |
1: 36,450,355 (GRCm39) |
W1175R |
probably damaging |
Het |
Fgfrl1 |
T |
C |
5: 108,853,372 (GRCm39) |
Y241H |
probably damaging |
Het |
Flvcr2 |
T |
C |
12: 85,793,974 (GRCm39) |
Y117H |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,823,416 (GRCm39) |
M6383K |
probably benign |
Het |
Gcc2 |
T |
A |
10: 58,105,296 (GRCm39) |
D141E |
probably benign |
Het |
Glt1d1 |
A |
C |
5: 127,783,950 (GRCm39) |
R301S |
probably benign |
Het |
Hars1 |
G |
C |
18: 36,916,107 (GRCm39) |
A16G |
probably benign |
Het |
Hmcn2 |
G |
T |
2: 31,278,385 (GRCm39) |
G1696C |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,145,091 (GRCm39) |
L814* |
probably null |
Het |
Izumo4 |
T |
A |
10: 80,538,551 (GRCm39) |
M1K |
probably null |
Het |
Kdm5d |
T |
A |
Y: 916,847 (GRCm39) |
M414K |
probably damaging |
Homo |
Kif21b |
G |
A |
1: 136,086,064 (GRCm39) |
V812I |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 31,988,661 (GRCm39) |
D270G |
possibly damaging |
Het |
Mical3 |
A |
G |
6: 120,936,486 (GRCm39) |
S1347P |
probably benign |
Het |
Mras |
T |
A |
9: 99,276,669 (GRCm39) |
D67V |
probably damaging |
Het |
Mtnr1b |
A |
T |
9: 15,774,509 (GRCm39) |
Y183* |
probably null |
Het |
Muc16 |
A |
T |
9: 18,568,625 (GRCm39) |
L1298Q |
unknown |
Het |
Myh2 |
A |
T |
11: 67,083,829 (GRCm39) |
I1536F |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,787 (GRCm39) |
I221T |
possibly damaging |
Het |
Osmr |
G |
T |
15: 6,850,544 (GRCm39) |
D686E |
probably benign |
Het |
Pah |
T |
A |
10: 87,414,831 (GRCm39) |
D394E |
probably benign |
Het |
Pla1a |
T |
A |
16: 38,237,486 (GRCm39) |
S71C |
probably benign |
Het |
Proc |
T |
A |
18: 32,266,486 (GRCm39) |
I114L |
probably benign |
Het |
Psd |
T |
G |
19: 46,301,826 (GRCm39) |
|
probably null |
Het |
Psmb6 |
C |
T |
11: 70,418,364 (GRCm39) |
Q226* |
probably null |
Het |
Rnpepl1 |
A |
T |
1: 92,847,563 (GRCm39) |
N717Y |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,324,988 (GRCm39) |
S565P |
probably benign |
Het |
Serpinb5 |
T |
A |
1: 106,809,495 (GRCm39) |
S300R |
probably benign |
Het |
Serpinf2 |
T |
C |
11: 75,323,257 (GRCm39) |
D483G |
probably damaging |
Het |
Smg6 |
T |
A |
11: 74,944,600 (GRCm39) |
D116E |
possibly damaging |
Het |
Srfbp1 |
G |
T |
18: 52,622,034 (GRCm39) |
S365I |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,835,872 (GRCm39) |
T236A |
probably benign |
Het |
Susd5 |
T |
C |
9: 113,924,870 (GRCm39) |
V251A |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,118,332 (GRCm39) |
Y314C |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,179,048 (GRCm39) |
D112G |
possibly damaging |
Het |
Tubb2b |
A |
G |
13: 34,311,528 (GRCm39) |
Y422H |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,305,872 (GRCm39) |
S332P |
possibly damaging |
Het |
Vmn1r29 |
A |
C |
6: 58,284,412 (GRCm39) |
Q44P |
probably damaging |
Het |
Vrtn |
T |
C |
12: 84,695,792 (GRCm39) |
S181P |
probably damaging |
Het |
Wdr76 |
T |
A |
2: 121,364,712 (GRCm39) |
Y437N |
possibly damaging |
Het |
Zc3h18 |
C |
A |
8: 123,135,025 (GRCm39) |
|
probably benign |
Het |
Zfp287 |
G |
T |
11: 62,616,168 (GRCm39) |
D174E |
probably damaging |
Het |
Zfp800 |
A |
T |
6: 28,244,601 (GRCm39) |
Y121* |
probably null |
Het |
Zfyve19 |
T |
A |
2: 119,041,078 (GRCm39) |
L57Q |
probably 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 |
|
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'- TGAGCTCCAAGGTTTCGAGG -3'
(R):5'- AGGGCTACCATATTAGGTACATGC -3'
Sequencing Primer
(F):5'- CGGAGGCTCATGTGGCTTAC -3'
(R):5'- ACCATATTAGGTACATGCTCTCCTG -3'
|
Posted On |
2018-04-27 |