Incidental Mutation 'R5104:Simc1'
ID |
392581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Simc1
|
Ensembl Gene |
ENSMUSG00000043183 |
Gene Name |
SUMO-interacting motifs containing 1 |
Synonyms |
4732471D19Rik |
MMRRC Submission |
042692-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5104 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54674175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 841
(D841G)
|
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: D841G
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113676 Gene: ENSMUSG00000043183 AA Change: D841G
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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
A |
G |
10: 77,158,121 (GRCm39) |
F109L |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,903,974 (GRCm39) |
Q241L |
possibly damaging |
Het |
Apof |
C |
T |
10: 128,105,487 (GRCm39) |
R214* |
probably null |
Het |
Armh4 |
A |
T |
14: 50,010,929 (GRCm39) |
D259E |
possibly damaging |
Het |
Atl2 |
A |
T |
17: 80,160,046 (GRCm39) |
S47T |
probably benign |
Het |
Azgp1 |
T |
G |
5: 137,985,815 (GRCm39) |
I146S |
probably damaging |
Het |
Bicral |
G |
A |
17: 47,112,182 (GRCm39) |
T1006I |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,395,729 (GRCm39) |
N540I |
probably damaging |
Het |
Ccdc77 |
T |
C |
6: 120,325,346 (GRCm39) |
|
probably null |
Het |
Cxcr5 |
G |
T |
9: 44,424,616 (GRCm39) |
P347Q |
probably benign |
Het |
Cyp4a14 |
T |
G |
4: 115,353,126 (GRCm39) |
H62P |
probably damaging |
Het |
Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Ehd3 |
A |
G |
17: 74,134,442 (GRCm39) |
N267S |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,933,973 (GRCm39) |
Y58C |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,169,814 (GRCm39) |
Y2982H |
possibly damaging |
Het |
Frmd3 |
C |
A |
4: 74,063,315 (GRCm39) |
A214D |
probably damaging |
Het |
Gabrg1 |
A |
C |
5: 70,931,775 (GRCm39) |
S323A |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,228,007 (GRCm39) |
I592V |
probably benign |
Het |
Gje1 |
G |
A |
10: 14,592,462 (GRCm39) |
Q107* |
probably null |
Het |
Gm29609 |
T |
C |
5: 31,311,638 (GRCm39) |
|
probably null |
Het |
Gpam |
A |
T |
19: 55,082,418 (GRCm39) |
F78I |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,515,377 (GRCm39) |
R252G |
probably damaging |
Het |
Hsd3b5 |
T |
A |
3: 98,526,592 (GRCm39) |
S285C |
probably damaging |
Het |
Ighv1-74 |
T |
C |
12: 115,766,507 (GRCm39) |
K37E |
possibly damaging |
Het |
Igkv8-34 |
T |
C |
6: 70,021,138 (GRCm39) |
D108G |
probably damaging |
Het |
Il6st |
C |
G |
13: 112,625,182 (GRCm39) |
T266S |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kit |
A |
G |
5: 75,776,138 (GRCm39) |
T307A |
probably benign |
Het |
Kmt2b |
G |
A |
7: 30,269,265 (GRCm39) |
R2552C |
probably damaging |
Het |
Krt4 |
T |
A |
15: 101,828,758 (GRCm39) |
R369W |
probably damaging |
Het |
Larp4 |
T |
A |
15: 99,883,964 (GRCm39) |
M8K |
probably damaging |
Het |
Lrit3 |
T |
A |
3: 129,582,040 (GRCm39) |
H528L |
possibly damaging |
Het |
Mia3 |
A |
G |
1: 183,119,579 (GRCm39) |
L157S |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,622,140 (GRCm39) |
Y32* |
probably null |
Het |
Nbea |
A |
G |
3: 55,987,348 (GRCm39) |
Y381H |
probably damaging |
Het |
Nelfcd |
T |
C |
2: 174,268,159 (GRCm39) |
V475A |
probably benign |
Het |
Noxa1 |
T |
C |
2: 24,976,246 (GRCm39) |
I347M |
probably benign |
Het |
Or11h4b |
T |
A |
14: 50,918,159 (GRCm39) |
K311* |
probably null |
Het |
Or2ag17 |
A |
T |
7: 106,389,539 (GRCm39) |
F223Y |
possibly damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or2y3 |
A |
T |
17: 38,393,174 (GRCm39) |
S232T |
possibly damaging |
Het |
Pabpc1l |
T |
A |
2: 163,885,507 (GRCm39) |
I420K |
probably benign |
Het |
Pi4ka |
C |
T |
16: 17,098,914 (GRCm39) |
C1990Y |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,655,415 (GRCm39) |
Q223L |
probably damaging |
Het |
Pkm |
G |
T |
9: 59,575,964 (GRCm39) |
|
probably null |
Het |
Proz |
A |
G |
8: 13,116,931 (GRCm39) |
D161G |
probably damaging |
Het |
Ptprb |
C |
A |
10: 116,158,364 (GRCm39) |
H765Q |
probably benign |
Het |
Relch |
T |
C |
1: 105,658,965 (GRCm39) |
V883A |
probably benign |
Het |
Rffl |
A |
T |
11: 82,703,619 (GRCm39) |
C101* |
probably null |
Het |
Rfx5 |
C |
T |
3: 94,862,451 (GRCm39) |
T36I |
probably benign |
Het |
Rnase12 |
C |
A |
14: 51,294,361 (GRCm39) |
C106F |
probably damaging |
Het |
Samd3 |
T |
C |
10: 26,139,686 (GRCm39) |
S273P |
possibly damaging |
Het |
Slc8a3 |
T |
C |
12: 81,260,908 (GRCm39) |
E607G |
probably null |
Het |
Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
Snx25 |
T |
C |
8: 46,521,203 (GRCm39) |
*143W |
probably null |
Het |
Taf15 |
A |
G |
11: 83,378,222 (GRCm39) |
Y154C |
probably damaging |
Het |
Tgfb3 |
A |
G |
12: 86,105,756 (GRCm39) |
V333A |
possibly damaging |
Het |
Tiam1 |
A |
G |
16: 89,614,929 (GRCm39) |
S2P |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,925,142 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
T |
C |
14: 123,170,257 (GRCm39) |
D585G |
probably damaging |
Het |
Trabd2b |
T |
C |
4: 114,264,114 (GRCm39) |
S34P |
probably benign |
Het |
Trbv13-2 |
T |
C |
6: 41,098,745 (GRCm39) |
Y107H |
probably damaging |
Het |
Tuba3a |
A |
G |
6: 125,259,347 (GRCm39) |
V115A |
probably benign |
Het |
Tut1 |
A |
G |
19: 8,936,698 (GRCm39) |
E174G |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,768,600 (GRCm39) |
M469K |
probably damaging |
Het |
Vcan |
C |
T |
13: 89,805,591 (GRCm39) |
|
probably benign |
Het |
Wapl |
C |
T |
14: 34,414,016 (GRCm39) |
Q293* |
probably null |
Het |
Wdr24 |
A |
G |
17: 26,043,565 (GRCm39) |
H129R |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,757,895 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAATACAGTCAGCAGGAG -3'
(R):5'- CTTGTATCTGAGCAGACCCAG -3'
Sequencing Primer
(F):5'- TACAGTCAGCAGGAGGTGTGTTAC -3'
(R):5'- TATCTGAGCAGACCCAGGGTTG -3'
|
Posted On |
2016-06-15 |