Incidental Mutation 'IGL01326:Simc1'
| ID |
74249 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Simc1
|
| Ensembl Gene |
ENSMUSG00000043183 |
| Gene Name |
SUMO-interacting motifs containing 1 |
| Synonyms |
4732471D19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54672473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 274
(C274R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118072]
[ENSMUST00000121401]
[ENSMUST00000138869]
[ENSMUST00000159721]
|
| AlphaFold |
E9Q6E9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118072
|
| SMART Domains |
Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121401
AA Change: C274R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: C274R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
268 |
491 |
3.21e-17 |
PROSPERO |
|
internal_repeat_1
|
579 |
832 |
3.21e-17 |
PROSPERO |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1293 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138869
|
| SMART Domains |
Protein: ENSMUSP00000124474
Gene: ENSMUSG00000043183
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150011
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159721
|
| SMART Domains |
Protein: ENSMUSP00000124921
Gene: ENSMUSG00000043183
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
| Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
| Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
| Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
| Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
| Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
| Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
| Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
| Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
| H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
| Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
| Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
| Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
| Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
| Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
possibly damaging |
Het |
|
| Other mutations in Simc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Simc1
|
APN |
13 |
54,672,989 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL00813:Simc1
|
APN |
13 |
54,694,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01587:Simc1
|
APN |
13 |
54,687,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Simc1
|
APN |
13 |
54,673,071 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02977:Simc1
|
APN |
13 |
54,674,120 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03051:Simc1
|
APN |
13 |
54,674,036 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03065:Simc1
|
APN |
13 |
54,685,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Simc1
|
APN |
13 |
54,698,442 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0158:Simc1
|
UTSW |
13 |
54,672,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0218:Simc1
|
UTSW |
13 |
54,674,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Simc1
|
UTSW |
13 |
54,698,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Simc1
|
UTSW |
13 |
54,698,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Simc1
|
UTSW |
13 |
54,676,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Simc1
|
UTSW |
13 |
54,684,913 (GRCm39) |
nonsense |
probably null |
|
|
R0556:Simc1
|
UTSW |
13 |
54,673,160 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0616:Simc1
|
UTSW |
13 |
54,694,845 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0686:Simc1
|
UTSW |
13 |
54,673,003 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0715:Simc1
|
UTSW |
13 |
54,673,468 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0761:Simc1
|
UTSW |
13 |
54,674,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1335:Simc1
|
UTSW |
13 |
54,673,078 (GRCm39) |
intron |
probably benign |
|
|
R1344:Simc1
|
UTSW |
13 |
54,698,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Simc1
|
UTSW |
13 |
54,673,060 (GRCm39) |
intron |
probably benign |
|
|
R1585:Simc1
|
UTSW |
13 |
54,673,071 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1633:Simc1
|
UTSW |
13 |
54,673,044 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1725:Simc1
|
UTSW |
13 |
54,674,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1826:Simc1
|
UTSW |
13 |
54,672,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1827:Simc1
|
UTSW |
13 |
54,672,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:Simc1
|
UTSW |
13 |
54,687,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Simc1
|
UTSW |
13 |
54,651,701 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2088:Simc1
|
UTSW |
13 |
54,689,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Simc1
|
UTSW |
13 |
54,689,331 (GRCm39) |
splice site |
probably null |
|
|
R2974:Simc1
|
UTSW |
13 |
54,698,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4238:Simc1
|
UTSW |
13 |
54,674,073 (GRCm39) |
nonsense |
probably null |
|
|
R4870:Simc1
|
UTSW |
13 |
54,687,576 (GRCm39) |
missense |
probably null |
0.73 |
|
R4959:Simc1
|
UTSW |
13 |
54,673,131 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5104:Simc1
|
UTSW |
13 |
54,674,175 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5217:Simc1
|
UTSW |
13 |
54,687,709 (GRCm39) |
unclassified |
probably benign |
|
|
R5319:Simc1
|
UTSW |
13 |
54,672,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5635:Simc1
|
UTSW |
13 |
54,673,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Simc1
|
UTSW |
13 |
54,694,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5900:Simc1
|
UTSW |
13 |
54,694,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Simc1
|
UTSW |
13 |
54,673,632 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6036:Simc1
|
UTSW |
13 |
54,672,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6036:Simc1
|
UTSW |
13 |
54,672,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6089:Simc1
|
UTSW |
13 |
54,676,303 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6271:Simc1
|
UTSW |
13 |
54,687,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Simc1
|
UTSW |
13 |
54,698,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Simc1
|
UTSW |
13 |
54,672,413 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Simc1
|
UTSW |
13 |
54,674,477 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6627:Simc1
|
UTSW |
13 |
54,694,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6758:Simc1
|
UTSW |
13 |
54,673,361 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7236:Simc1
|
UTSW |
13 |
54,672,609 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7297:Simc1
|
UTSW |
13 |
54,673,048 (GRCm39) |
intron |
probably benign |
|
|
R7359:Simc1
|
UTSW |
13 |
54,651,731 (GRCm39) |
missense |
unknown |
|
|
R7362:Simc1
|
UTSW |
13 |
54,687,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Simc1
|
UTSW |
13 |
54,672,162 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7792:Simc1
|
UTSW |
13 |
54,695,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Simc1
|
UTSW |
13 |
54,672,645 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7869:Simc1
|
UTSW |
13 |
54,651,713 (GRCm39) |
missense |
unknown |
|
|
R8293:Simc1
|
UTSW |
13 |
54,674,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8330:Simc1
|
UTSW |
13 |
54,673,177 (GRCm39) |
intron |
probably benign |
|
|
R8692:Simc1
|
UTSW |
13 |
54,673,193 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9087:Simc1
|
UTSW |
13 |
54,672,147 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9449:Simc1
|
UTSW |
13 |
54,674,192 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9732:Simc1
|
UTSW |
13 |
54,673,177 (GRCm39) |
intron |
probably benign |
|
|
X0023:Simc1
|
UTSW |
13 |
54,689,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Simc1
|
UTSW |
13 |
54,672,258 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-10-07 |
Incidental Mutation