Incidental Mutation 'R5963:Simc1'
| ID |
471896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Simc1
|
| Ensembl Gene |
ENSMUSG00000043183 |
| Gene Name |
SUMO-interacting motifs containing 1 |
| Synonyms |
4732471D19Rik |
| MMRRC Submission |
044148-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54673632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 660
(I660K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000121401
AA Change: I660K
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: I660K
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
A |
G |
7: 97,029,037 (GRCm39) |
K131E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,823,056 (GRCm39) |
L575* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,957,442 (GRCm39) |
T819A |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,807,659 (GRCm39) |
S407T |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,286,889 (GRCm39) |
C272S |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,553,192 (GRCm39) |
|
probably null |
Het |
| C5ar1 |
A |
G |
7: 15,982,747 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,411,579 (GRCm39) |
H649R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,734,013 (GRCm39) |
V1451E |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,231,511 (GRCm39) |
M901L |
probably damaging |
Het |
| Cherp |
G |
T |
8: 73,215,379 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,078,630 (GRCm39) |
V1229I |
possibly damaging |
Het |
| Fat4 |
A |
C |
3: 39,064,696 (GRCm39) |
D4884A |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,480 (GRCm39) |
F243L |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,262,487 (GRCm39) |
I776F |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,690 (GRCm39) |
R272* |
probably null |
Het |
| Gsdmc |
A |
T |
15: 63,651,965 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
A |
8: 111,220,926 (GRCm39) |
F1441I |
possibly damaging |
Het |
| Ints11 |
T |
A |
4: 155,957,369 (GRCm39) |
C63* |
probably null |
Het |
| Kdm4b |
A |
T |
17: 56,706,732 (GRCm39) |
T908S |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,058,700 (GRCm39) |
D304G |
probably damaging |
Het |
| Man2a1 |
T |
G |
17: 64,982,117 (GRCm39) |
N544K |
probably benign |
Het |
| Mapkapk5 |
G |
T |
5: 121,676,544 (GRCm39) |
H66N |
probably damaging |
Het |
| Mog |
G |
A |
17: 37,323,240 (GRCm39) |
R233* |
probably null |
Het |
| Mrps24 |
A |
T |
11: 5,657,481 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,642,768 (GRCm39) |
L423P |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,168 (GRCm39) |
V174E |
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,064,224 (GRCm39) |
V296E |
probably damaging |
Het |
| Pdcd2 |
T |
C |
17: 15,746,656 (GRCm39) |
K168E |
possibly damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,746,657 (GRCm39) |
H167Q |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,780 (GRCm39) |
V63D |
probably damaging |
Het |
| Pnn |
C |
T |
12: 59,114,617 (GRCm39) |
R56* |
probably null |
Het |
| Primpol |
T |
A |
8: 47,046,615 (GRCm39) |
E227V |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 115,967,584 (GRCm39) |
W233R |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,578 (GRCm39) |
D103V |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,091,819 (GRCm39) |
S1511P |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,442,962 (GRCm39) |
|
probably null |
Het |
| Slc15a5 |
A |
G |
6: 138,056,691 (GRCm39) |
L75P |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,721,196 (GRCm39) |
S55G |
possibly damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,046 (GRCm39) |
V242A |
probably benign |
Het |
| St14 |
A |
T |
9: 31,017,853 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
T |
C |
1: 135,771,600 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
G |
A |
1: 191,731,977 (GRCm39) |
T288I |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,625,263 (GRCm39) |
|
noncoding transcript |
Het |
| Vegfc |
A |
G |
8: 54,634,319 (GRCm39) |
N333D |
probably benign |
Het |
| Vmn1r65 |
T |
A |
7: 6,011,608 (GRCm39) |
I209F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,118,320 (GRCm39) |
L725P |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,288,871 (GRCm39) |
I408T |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,052,310 (GRCm39) |
Y114H |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,918 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,355,362 (GRCm39) |
|
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,615,103 (GRCm39) |
T453A |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,378 (GRCm39) |
G357C |
probably damaging |
Het |
| Zmynd11 |
G |
T |
13: 9,745,931 (GRCm39) |
|
probably benign |
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 |
|
IGL01326:Simc1
|
APN |
13 |
54,672,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAAGAGATAGGATGCAGTCAC -3'
(R):5'- CTGGTGACTGCATCCTATCC -3'
Sequencing Primer
(F):5'- CCAGGAGGTGTGTCACTGG -3'
(R):5'- ATCCCTTGATGACCGTGGCAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation