Incidental Mutation 'R2414:Sgsm3'
| ID |
250116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm3
|
| Ensembl Gene |
ENSMUSG00000042303 |
| Gene Name |
small G protein signaling modulator 3 |
| Synonyms |
1810012I01Rik, Rutbc3, CIP85 |
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80861966-80896491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80890946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 136
(N136D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137004]
[ENSMUST00000137255]
[ENSMUST00000139517]
[ENSMUST00000143147]
[ENSMUST00000229727]
[ENSMUST00000228971]
|
| 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: ENSMUST00000042506
AA Change: N146D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565
AA Change: N146D
| 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 |
unknown
Transcript: ENSMUST00000124845
AA Change: N63D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139517
AA Change: N136D
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: N136D
| 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: ENSMUST00000149345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228971
|
| 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 |
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
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 |
|
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'- GCTCTGAGAAACTCCGTTCC -3'
(R):5'- GCCACACTCCTGAGTAAAAGG -3'
Sequencing Primer
(F):5'- GAGAAACTCCGTTCCCTAGTG -3'
(R):5'- CTCCTGAGTAAAAGGGCTACC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation