Incidental Mutation 'R9449:Simc1'
ID |
714149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Simc1
|
Ensembl Gene |
ENSMUSG00000043183 |
Gene Name |
SUMO-interacting motifs containing 1 |
Synonyms |
4732471D19Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R9449 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54674192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 847
(T847A)
|
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: T847A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113676 Gene: ENSMUSG00000043183 AA Change: T847A
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Aarsd1 |
A |
C |
11: 101,301,597 (GRCm39) |
S262A |
probably benign |
Het |
Abhd17c |
A |
G |
7: 83,763,637 (GRCm39) |
Y189H |
probably damaging |
Het |
Adam33 |
T |
C |
2: 130,895,606 (GRCm39) |
R570G |
possibly damaging |
Het |
Alpk2 |
G |
A |
18: 65,424,464 (GRCm39) |
R1441W |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,885,464 (GRCm39) |
V581A |
probably benign |
Het |
Bcat2 |
T |
C |
7: 45,234,980 (GRCm39) |
V226A |
possibly damaging |
Het |
Cdh10 |
A |
G |
15: 19,013,521 (GRCm39) |
N707S |
possibly damaging |
Het |
Chd9 |
T |
C |
8: 91,659,174 (GRCm39) |
F45L |
unknown |
Het |
Clec1a |
T |
C |
6: 129,428,606 (GRCm39) |
T25A |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,259,671 (GRCm39) |
F1338L |
probably damaging |
Het |
Cthrc1 |
A |
G |
15: 38,947,868 (GRCm39) |
T196A |
probably benign |
Het |
Ctsm |
A |
T |
13: 61,686,299 (GRCm39) |
V228D |
probably damaging |
Het |
Dennd3 |
A |
T |
15: 73,429,477 (GRCm39) |
D920V |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,987,452 (GRCm39) |
I1286T |
probably benign |
Het |
Dnah3 |
T |
A |
7: 119,551,473 (GRCm39) |
T2949S |
probably benign |
Het |
Dram1 |
C |
T |
10: 88,192,703 (GRCm39) |
V28M |
probably benign |
Het |
Eml5 |
A |
G |
12: 98,827,554 (GRCm39) |
Y559H |
probably damaging |
Het |
Ermard |
C |
T |
17: 15,273,554 (GRCm39) |
R380C |
possibly damaging |
Het |
Fam181a |
A |
G |
12: 103,282,107 (GRCm39) |
D4G |
probably damaging |
Het |
Gabrd |
C |
A |
4: 155,472,803 (GRCm39) |
V127L |
probably damaging |
Het |
Galnt12 |
T |
A |
4: 47,104,163 (GRCm39) |
Y140* |
probably null |
Het |
Gpr161 |
A |
T |
1: 165,146,389 (GRCm39) |
K442* |
probably null |
Het |
Haus6 |
A |
T |
4: 86,513,665 (GRCm39) |
N332K |
probably benign |
Het |
Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,625,264 (GRCm39) |
*622R |
probably null |
Het |
Kcna2 |
T |
A |
3: 107,012,887 (GRCm39) |
Y489* |
probably null |
Het |
Limk1 |
A |
G |
5: 134,701,864 (GRCm39) |
|
probably null |
Het |
Manba |
A |
T |
3: 135,255,079 (GRCm39) |
D479V |
probably benign |
Het |
Myh6 |
A |
T |
14: 55,189,779 (GRCm39) |
I1089N |
possibly damaging |
Het |
Npas4 |
T |
A |
19: 5,038,492 (GRCm39) |
D142V |
probably damaging |
Het |
Nr4a1 |
T |
C |
15: 101,168,053 (GRCm39) |
F30L |
probably benign |
Het |
Numbl |
C |
T |
7: 26,976,327 (GRCm39) |
R336C |
|
Het |
Or10x4 |
G |
A |
1: 174,218,742 (GRCm39) |
A36T |
probably benign |
Het |
Or5p4 |
T |
C |
7: 107,680,040 (GRCm39) |
I13T |
|
Het |
Parp9 |
T |
C |
16: 35,777,234 (GRCm39) |
S393P |
probably damaging |
Het |
Pcdha11 |
A |
G |
18: 37,145,484 (GRCm39) |
E525G |
probably damaging |
Het |
Pdia2 |
T |
C |
17: 26,416,174 (GRCm39) |
T298A |
probably benign |
Het |
Per3 |
G |
A |
4: 151,094,945 (GRCm39) |
T946I |
probably benign |
Het |
Pla2r1 |
A |
T |
2: 60,258,902 (GRCm39) |
V1162D |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,932,730 (GRCm39) |
N1917Y |
probably damaging |
Het |
Pole3 |
A |
T |
4: 62,442,277 (GRCm39) |
D114E |
unknown |
Het |
Ppil3 |
T |
C |
1: 58,470,397 (GRCm39) |
D151G |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,165,833 (GRCm39) |
M365K |
unknown |
Het |
Psme2b |
T |
G |
11: 48,836,566 (GRCm39) |
H127P |
probably damaging |
Het |
Ric8a |
C |
G |
7: 140,437,393 (GRCm39) |
R4G |
probably benign |
Het |
Rock2 |
A |
T |
12: 17,027,763 (GRCm39) |
D1360V |
probably damaging |
Het |
Slc12a1 |
T |
A |
2: 125,028,144 (GRCm39) |
V480E |
probably damaging |
Het |
Slc32a1 |
T |
C |
2: 158,456,241 (GRCm39) |
F299L |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,258,333 (GRCm39) |
Y500C |
|
Het |
Ssbp2 |
A |
G |
13: 91,823,157 (GRCm39) |
D192G |
probably benign |
Het |
Stat5b |
T |
C |
11: 100,681,674 (GRCm39) |
K527E |
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Usp50 |
A |
G |
2: 126,619,817 (GRCm39) |
|
probably null |
Het |
Vegfc |
A |
T |
8: 54,610,053 (GRCm39) |
M70L |
probably benign |
Het |
Vmn1r40 |
A |
G |
6: 89,691,854 (GRCm39) |
T224A |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,605,919 (GRCm39) |
D277G |
probably benign |
Het |
Vti1a |
T |
A |
19: 55,612,278 (GRCm39) |
I197N |
possibly damaging |
Het |
Zfyve9 |
C |
A |
4: 108,576,435 (GRCm39) |
L215F |
probably damaging |
Het |
Znrf3 |
A |
T |
11: 5,288,710 (GRCm39) |
Y19* |
probably null |
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 |
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 |
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'- TCACCAAGAAGTGTGCCACAG -3'
(R):5'- TCAGTCTATGCAGGCAAGGTC -3'
Sequencing Primer
(F):5'- AGTCACCTAGCGGTACATTG -3'
(R):5'- GCAGGCAAGGTCTATTGTATACCC -3'
|
Posted On |
2022-06-15 |