Incidental Mutation 'R7297:Simc1'
| ID |
566763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Simc1
|
| Ensembl Gene |
ENSMUSG00000043183 |
| Gene Name |
SUMO-interacting motifs containing 1 |
| Synonyms |
4732471D19Rik |
| MMRRC Submission |
045401-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7297 (G1)
|
| Quality Score |
127.474 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG to AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG
at 54673048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124921
(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
|
| SMART Domains |
Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
| 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 |
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Abca6 |
C |
T |
11: 110,073,852 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
G |
3: 138,134,901 (GRCm39) |
I358M |
possibly damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,106,616 (GRCm39) |
A1409V |
possibly damaging |
Het |
| Arhgap22 |
C |
T |
14: 32,993,890 (GRCm39) |
R68* |
probably null |
Het |
| Arhgef4 |
A |
T |
1: 34,846,273 (GRCm39) |
D207V |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,566,462 (GRCm39) |
T472A |
probably damaging |
Het |
| Ascl1 |
A |
T |
10: 87,328,326 (GRCm39) |
S209T |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,239,355 (GRCm39) |
V382A |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,856,774 (GRCm39) |
|
probably null |
Het |
| Calu |
C |
T |
6: 29,356,554 (GRCm39) |
R27* |
probably null |
Het |
| Cdh20 |
A |
G |
1: 104,898,598 (GRCm39) |
T442A |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,927,869 (GRCm39) |
Q389L |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,079,460 (GRCm39) |
T1233A |
probably benign |
Het |
| Cwc15 |
G |
A |
9: 14,421,525 (GRCm39) |
C197Y |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dennd3 |
C |
T |
15: 73,429,459 (GRCm39) |
T914I |
probably damaging |
Het |
| Dlx3 |
C |
A |
11: 95,011,276 (GRCm39) |
Y43* |
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,946,556 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,994,182 (GRCm39) |
F1081S |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,281,157 (GRCm39) |
Q631* |
probably null |
Het |
| Dsel |
T |
A |
1: 111,789,506 (GRCm39) |
D343V |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,787,997 (GRCm39) |
D655G |
possibly damaging |
Het |
| Epha8 |
T |
A |
4: 136,673,224 (GRCm39) |
I187L |
probably damaging |
Het |
| Exosc10 |
A |
G |
4: 148,664,834 (GRCm39) |
K781E |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,365,751 (GRCm39) |
L200P |
probably benign |
Het |
| Faiml |
T |
C |
9: 99,111,666 (GRCm39) |
E131G |
probably damaging |
Het |
| Gm5145 |
G |
A |
17: 20,790,993 (GRCm39) |
V124I |
probably benign |
Het |
| Grm7 |
T |
C |
6: 110,622,974 (GRCm39) |
V49A |
probably benign |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,427 (GRCm39) |
D35G |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,435,941 (GRCm39) |
Q1160* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,786,406 (GRCm39) |
C1584S |
probably benign |
Het |
| Hsd17b3 |
T |
C |
13: 64,224,165 (GRCm39) |
I88V |
probably damaging |
Het |
| Hspa14 |
A |
C |
2: 3,499,179 (GRCm39) |
L205R |
possibly damaging |
Het |
| Ifna11 |
A |
C |
4: 88,738,662 (GRCm39) |
E156A |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,387,528 (GRCm39) |
D170G |
probably benign |
Het |
| Mas1 |
T |
C |
17: 13,060,745 (GRCm39) |
Y226C |
probably damaging |
Het |
| Micall1 |
T |
C |
15: 79,005,097 (GRCm39) |
F190L |
unknown |
Het |
| Msi2 |
A |
T |
11: 88,370,864 (GRCm39) |
L141Q |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,465,768 (GRCm39) |
D27G |
probably benign |
Het |
| Nlrp9b |
A |
G |
7: 19,783,438 (GRCm39) |
D927G |
possibly damaging |
Het |
| Nrg3 |
T |
C |
14: 38,092,896 (GRCm39) |
D579G |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,767,245 (GRCm39) |
D296N |
probably damaging |
Het |
| Or8h6 |
A |
T |
2: 86,703,980 (GRCm39) |
V29E |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,885,138 (GRCm39) |
P1406S |
not run |
Het |
| Pkib |
A |
T |
10: 57,612,422 (GRCm39) |
Q101L |
possibly damaging |
Het |
| Plat |
C |
T |
8: 23,265,713 (GRCm39) |
T252I |
probably benign |
Het |
| Ppm1d |
A |
T |
11: 85,236,821 (GRCm39) |
E533D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,573,686 (GRCm39) |
K165R |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,944,616 (GRCm39) |
Y375* |
probably null |
Het |
| Pus7 |
A |
T |
5: 23,946,908 (GRCm39) |
I644N |
probably damaging |
Het |
| Rbbp9 |
A |
T |
2: 144,385,722 (GRCm39) |
M181K |
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,093,418 (GRCm39) |
N112K |
possibly damaging |
Het |
| Skint5 |
G |
A |
4: 113,400,131 (GRCm39) |
T1184M |
unknown |
Het |
| Slc27a2 |
T |
A |
2: 126,420,866 (GRCm39) |
D452E |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,146,888 (GRCm39) |
I489N |
probably damaging |
Het |
| Slfn14 |
T |
A |
11: 83,169,821 (GRCm39) |
K608* |
probably null |
Het |
| Snx15 |
T |
A |
19: 6,170,537 (GRCm39) |
I301F |
probably damaging |
Het |
| Sost |
C |
T |
11: 101,854,929 (GRCm39) |
G127R |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,106,025 (GRCm39) |
I150T |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,478,402 (GRCm39) |
D58G |
probably benign |
Het |
| Tex46 |
T |
G |
4: 136,340,212 (GRCm39) |
V99G |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,926 (GRCm39) |
F492I |
possibly damaging |
Het |
| Tmem132c |
G |
A |
5: 127,437,281 (GRCm39) |
A257T |
probably benign |
Het |
| Trim2 |
A |
T |
3: 84,117,540 (GRCm39) |
I51K |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,228,591 (GRCm39) |
Y210* |
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,227,639 (GRCm39) |
R1324H |
probably benign |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r5 |
A |
T |
6: 56,963,204 (GRCm39) |
N293I |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,293,835 (GRCm39) |
I641F |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,119 (GRCm39) |
N240D |
probably benign |
Het |
| Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
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 |
|
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 |
|
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 |
|
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'- TGATGCAGTCACCAGGAAGTG -3'
(R):5'- TCACACCTCCTGATGACTGC -3'
Sequencing Primer
(F):5'- TCATCAGGAAGTGTGACCCAGTC -3'
(R):5'- GATGACTGCATTACACTTCTTAGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation