Incidental Mutation 'R7490:Simc1'
ID |
580703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Simc1
|
Ensembl Gene |
ENSMUSG00000043183 |
Gene Name |
SUMO-interacting motifs containing 1 |
Synonyms |
4732471D19Rik |
MMRRC Submission |
045564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R7490 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 54672162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 170
(L170R)
|
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: L170R
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113676 Gene: ENSMUSG00000043183 AA Change: L170R
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
C |
1: 53,202,389 (GRCm39) |
D132G |
possibly damaging |
Het |
Abca5 |
T |
C |
11: 110,168,437 (GRCm39) |
E1424G |
possibly damaging |
Het |
Adamts4 |
C |
T |
1: 171,084,169 (GRCm39) |
Q549* |
probably null |
Het |
Adcy4 |
A |
G |
14: 56,007,890 (GRCm39) |
I893T |
possibly damaging |
Het |
Ago1 |
A |
T |
4: 126,333,298 (GRCm39) |
*858R |
probably null |
Het |
Ank2 |
T |
A |
3: 126,752,538 (GRCm39) |
I393L |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,687,459 (GRCm39) |
T987A |
probably benign |
Het |
Ap2a1 |
G |
T |
7: 44,552,213 (GRCm39) |
N790K |
probably benign |
Het |
Aqr |
A |
G |
2: 113,989,349 (GRCm39) |
|
probably null |
Het |
Arel1 |
G |
T |
12: 84,988,685 (GRCm39) |
F21L |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,686,895 (GRCm39) |
D743G |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,517,272 (GRCm39) |
F354I |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,359,818 (GRCm39) |
H259R |
unknown |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TGGTT |
TGGTTCTGTGGTCACGGGTT |
3: 95,795,498 (GRCm39) |
|
probably benign |
Het |
BC028528 |
GTCACTGGTTCTGTG |
GTCACTGGTTCTGTGTTCACTGGTTCTGTG |
3: 95,795,478 (GRCm39) |
|
probably benign |
Het |
Bckdk |
T |
A |
7: 127,504,145 (GRCm39) |
S15T |
unknown |
Het |
C4b |
G |
T |
17: 34,950,054 (GRCm39) |
Y1405* |
probably null |
Het |
Camk4 |
G |
A |
18: 33,072,598 (GRCm39) |
|
probably null |
Het |
Car11 |
T |
A |
7: 45,349,742 (GRCm39) |
W16R |
probably benign |
Het |
Ccdc80 |
A |
C |
16: 44,916,763 (GRCm39) |
E506D |
probably damaging |
Het |
Chmp6 |
C |
T |
11: 119,806,269 (GRCm39) |
Q32* |
probably null |
Het |
Colq |
G |
A |
14: 31,267,043 (GRCm39) |
P166S |
possibly damaging |
Het |
Ctxn3 |
T |
C |
18: 57,610,357 (GRCm39) |
M58T |
probably damaging |
Het |
Cxcl3 |
A |
T |
5: 90,934,516 (GRCm39) |
I93L |
unknown |
Het |
Dnaaf2 |
T |
C |
12: 69,244,380 (GRCm39) |
Y227C |
probably damaging |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,954,204 (GRCm39) |
G792D |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,584,993 (GRCm39) |
|
probably null |
Het |
Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
Fbxl13 |
T |
A |
5: 21,728,058 (GRCm39) |
R550* |
probably null |
Het |
Gm4302 |
A |
T |
10: 100,177,445 (GRCm39) |
Q243L |
unknown |
Het |
Gm7168 |
A |
T |
17: 14,169,275 (GRCm39) |
Y214F |
probably benign |
Het |
Gtf3c1 |
C |
T |
7: 125,246,663 (GRCm39) |
D1549N |
probably damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,153 (GRCm39) |
D320E |
probably damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,126 (GRCm39) |
V1122D |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,600,987 (GRCm39) |
|
probably null |
Het |
Irs1 |
T |
A |
1: 82,264,985 (GRCm39) |
Q1077L |
probably damaging |
Het |
Ivd |
A |
T |
2: 118,707,373 (GRCm39) |
M296L |
possibly damaging |
Het |
Katnal1 |
T |
C |
5: 148,828,492 (GRCm39) |
D318G |
probably null |
Het |
L3mbtl3 |
C |
T |
10: 26,215,129 (GRCm39) |
V194I |
unknown |
Het |
Malt1 |
C |
A |
18: 65,581,282 (GRCm39) |
Q237K |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,311,187 (GRCm39) |
A221V |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,434,524 (GRCm39) |
I361M |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,308,682 (GRCm39) |
R493C |
probably damaging |
Het |
Oga |
G |
A |
19: 45,755,886 (GRCm39) |
R586* |
probably null |
Het |
Or10g9b |
T |
A |
9: 39,917,720 (GRCm39) |
H175L |
probably damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,739 (GRCm39) |
I256T |
probably damaging |
Het |
Or4c107 |
A |
C |
2: 88,789,392 (GRCm39) |
Y194S |
probably benign |
Het |
Or51g2 |
G |
A |
7: 102,623,017 (GRCm39) |
P61S |
probably damaging |
Het |
Or5ar1 |
A |
T |
2: 85,671,307 (GRCm39) |
V276E |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,727,229 (GRCm39) |
Y120* |
probably null |
Het |
Orai3 |
C |
T |
7: 127,372,799 (GRCm39) |
A100V |
possibly damaging |
Het |
Oxsm |
T |
A |
14: 16,241,066 (GRCm38) |
M328L |
probably benign |
Het |
Pan2 |
T |
C |
10: 128,144,309 (GRCm39) |
V186A |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,866,265 (GRCm39) |
D980V |
|
Het |
Ppp1r16b |
T |
C |
2: 158,603,388 (GRCm39) |
Y438H |
probably damaging |
Het |
Ppp4c |
A |
T |
7: 126,386,504 (GRCm39) |
H164Q |
probably damaging |
Het |
Prl8a2 |
C |
A |
13: 27,536,753 (GRCm39) |
T125K |
possibly damaging |
Het |
Rasa2 |
T |
C |
9: 96,448,175 (GRCm39) |
N494S |
possibly damaging |
Het |
Rpl18a |
T |
C |
8: 71,348,150 (GRCm39) |
D147G |
probably benign |
Het |
Scg3 |
T |
C |
9: 75,576,559 (GRCm39) |
D272G |
possibly damaging |
Het |
Serpinb6c |
T |
A |
13: 34,077,818 (GRCm39) |
D184V |
probably benign |
Het |
Slx4 |
T |
C |
16: 3,797,995 (GRCm39) |
E1463G |
possibly damaging |
Het |
Stk31 |
T |
A |
6: 49,416,166 (GRCm39) |
|
probably null |
Het |
Tas1r3 |
A |
G |
4: 155,946,480 (GRCm39) |
I375T |
probably damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,401,494 (GRCm39) |
D405G |
probably damaging |
Het |
Tcerg1l |
G |
A |
7: 137,861,557 (GRCm39) |
P391S |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,695,083 (GRCm39) |
S125G |
probably benign |
Het |
Trim16 |
C |
A |
11: 62,724,949 (GRCm39) |
H246N |
probably damaging |
Het |
Tti1 |
T |
A |
2: 157,837,392 (GRCm39) |
N896I |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,451,286 (GRCm39) |
N395S |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,203,589 (GRCm39) |
I1014V |
probably benign |
Het |
Vmn1r30 |
T |
A |
6: 58,412,214 (GRCm39) |
Q206L |
possibly damaging |
Het |
Washc5 |
T |
A |
15: 59,209,053 (GRCm39) |
N1057I |
probably benign |
Het |
Xpo4 |
GGTATTAGCGGAGT |
GGT |
14: 57,840,078 (GRCm39) |
|
probably null |
Het |
Zcchc14 |
A |
T |
8: 122,331,756 (GRCm39) |
S536T |
unknown |
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 |
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 |
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'- CCATGAAGATAGAGGCTCTCAG -3'
(R):5'- CAAAGCTTGAGGTGGGCATG -3'
Sequencing Primer
(F):5'- CTGCAGCACAGAGAATCA -3'
(R):5'- CATGAGGAAGCTCGTGGTG -3'
|
Posted On |
2019-10-17 |