Incidental Mutation 'R0382:Sgsm3'
| ID |
31037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm3
|
| Ensembl Gene |
ENSMUSG00000042303 |
| Gene Name |
small G protein signaling modulator 3 |
| Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
| MMRRC Submission |
038588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R0382 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 80892515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 280
(W280*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000139517]
[ENSMUST00000137004]
[ENSMUST00000228971]
[ENSMUST00000149582]
[ENSMUST00000143147]
[ENSMUST00000229727]
[ENSMUST00000137255]
|
| AlphaFold |
Q8VCZ6 |
| PDB Structure |
Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042506
AA Change: W290*
|
| SMART Domains |
Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565
AA Change: W290*
| 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 |
probably null
Transcript: ENSMUST00000124845
AA Change: W207*
|
| 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 null
Transcript: ENSMUST00000139517
AA Change: W280*
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: W280*
| 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: ENSMUST00000134559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230118
|
| 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: ENSMUST00000143147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229727
|
| 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: ENSMUST00000137255
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,923,901 (GRCm39) |
Q266L |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,586,650 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
C |
11: 80,069,211 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,545 (GRCm39) |
R662G |
possibly damaging |
Het |
| Celsr3 |
C |
A |
9: 108,706,417 (GRCm39) |
P967T |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,802,680 (GRCm39) |
|
probably benign |
Het |
| Ckm |
T |
C |
7: 19,155,309 (GRCm39) |
*382Q |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,315,403 (GRCm39) |
V73A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,256 (GRCm39) |
V1944E |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,632,754 (GRCm39) |
D1473V |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,435,342 (GRCm39) |
M172T |
probably benign |
Het |
| Dcaf12 |
T |
C |
4: 41,302,672 (GRCm39) |
N161S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,822 (GRCm39) |
Y75C |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,758,966 (GRCm39) |
V388A |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,052 (GRCm39) |
C3780R |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,458,021 (GRCm39) |
*401R |
probably null |
Het |
| Fbxo5 |
G |
T |
10: 5,751,176 (GRCm39) |
Y270* |
probably null |
Het |
| Fnbp1l |
A |
T |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,613,141 (GRCm39) |
S3P |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,001,080 (GRCm39) |
D309G |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,669 (GRCm39) |
D192G |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,444,631 (GRCm39) |
S1080P |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,536,971 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
A |
G |
15: 88,869,796 (GRCm39) |
Y59C |
possibly damaging |
Het |
| Natd1 |
C |
T |
11: 60,797,739 (GRCm39) |
R62H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,931,132 (GRCm39) |
T5835A |
probably damaging |
Het |
| Or4c31 |
A |
T |
2: 88,292,069 (GRCm39) |
R147S |
possibly damaging |
Het |
| Or5j3 |
A |
G |
2: 86,128,937 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or6c66b |
T |
C |
10: 129,376,883 (GRCm39) |
I159T |
probably benign |
Het |
| Or7a38 |
T |
A |
10: 78,752,960 (GRCm39) |
Y95* |
probably null |
Het |
| P2rx2 |
T |
A |
5: 110,489,045 (GRCm39) |
E289V |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,902,596 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,591 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
C |
T |
3: 36,235,118 (GRCm39) |
C253Y |
possibly damaging |
Het |
| Rad21l |
A |
T |
2: 151,487,363 (GRCm39) |
D540E |
probably damaging |
Het |
| Rbm45 |
T |
A |
2: 76,200,555 (GRCm39) |
I28N |
possibly damaging |
Het |
| Rnf170 |
A |
T |
8: 26,615,927 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
T |
9: 94,567,270 (GRCm39) |
H113L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,183 (GRCm39) |
C78F |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,360 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn8 |
T |
A |
11: 82,895,382 (GRCm39) |
I475F |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,656,319 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
T |
2: 37,490,838 (GRCm39) |
N472K |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,411,760 (GRCm39) |
|
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,150 (GRCm39) |
L664P |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,989,051 (GRCm39) |
M124L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,529 (GRCm39) |
N536S |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,619,848 (GRCm39) |
I155F |
probably damaging |
Het |
| Utp4 |
T |
C |
8: 107,649,567 (GRCm39) |
I672T |
probably benign |
Het |
| Vmn1r94 |
A |
T |
7: 19,901,578 (GRCm39) |
M242K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,098 (GRCm39) |
N397H |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,463 (GRCm39) |
Y395C |
probably damaging |
Het |
| Vps41 |
C |
A |
13: 19,011,897 (GRCm39) |
H335N |
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 |
|
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 |
|
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'- TTGCAGGAGCACGACATTGGTGAG -3'
(R):5'- GGCAACGCTATGATGAAGACTGGAC -3'
Sequencing Primer
(F):5'- CACGACATTGGTGAGACCTG -3'
(R):5'- CAGGGCTACCATATTAGGTACATGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation