Incidental Mutation 'R5217:Simc1'
ID |
403561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Simc1
|
Ensembl Gene |
ENSMUSG00000043183 |
Gene Name |
SUMO-interacting motifs containing 1 |
Synonyms |
4732471D19Rik |
MMRRC Submission |
042790-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5217 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 54687709 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 |
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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
Abhd11 |
T |
A |
5: 135,040,398 (GRCm39) |
W144R |
probably damaging |
Het |
Abhd2 |
A |
G |
7: 78,973,378 (GRCm39) |
E119G |
probably benign |
Het |
Acbd3 |
A |
G |
1: 180,553,938 (GRCm39) |
Y91C |
probably benign |
Het |
Aox4 |
C |
A |
1: 58,285,400 (GRCm39) |
S628* |
probably null |
Het |
Bahcc1 |
T |
A |
11: 120,165,285 (GRCm39) |
Y905* |
probably null |
Het |
Baiap2l2 |
T |
G |
15: 79,154,687 (GRCm39) |
S211R |
probably benign |
Het |
Cab39l |
T |
A |
14: 59,764,258 (GRCm39) |
Y206* |
probably null |
Het |
Cacna1i |
A |
T |
15: 80,275,041 (GRCm39) |
T1830S |
possibly damaging |
Het |
Catsperg1 |
A |
T |
7: 28,889,723 (GRCm39) |
L793* |
probably null |
Het |
Cdh10 |
G |
T |
15: 18,966,108 (GRCm39) |
V198F |
probably damaging |
Het |
Cenpk |
A |
T |
13: 104,385,917 (GRCm39) |
I271F |
probably damaging |
Het |
Chchd4 |
A |
T |
6: 91,442,260 (GRCm39) |
C53S |
probably damaging |
Het |
Cluh |
T |
G |
11: 74,550,531 (GRCm39) |
C252W |
probably damaging |
Het |
Cmklr1 |
G |
T |
5: 113,752,710 (GRCm39) |
A97E |
probably damaging |
Het |
Coil |
C |
A |
11: 88,871,987 (GRCm39) |
A116D |
possibly damaging |
Het |
Eif1ad9 |
A |
G |
12: 88,296,196 (GRCm39) |
H58R |
probably benign |
Het |
F830045P16Rik |
C |
A |
2: 129,305,493 (GRCm39) |
V294F |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,969,939 (GRCm39) |
M1196K |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,140,604 (GRCm39) |
S31L |
probably benign |
Het |
Gm7135 |
A |
T |
1: 97,362,790 (GRCm39) |
|
noncoding transcript |
Het |
Gon4l |
C |
A |
3: 88,794,882 (GRCm39) |
T695K |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,491,614 (GRCm39) |
H3684R |
possibly damaging |
Het |
Ica1l |
T |
A |
1: 60,054,917 (GRCm39) |
M105L |
probably benign |
Het |
Ift70a1 |
A |
G |
2: 75,811,147 (GRCm39) |
L312P |
probably damaging |
Het |
Igkv8-24 |
A |
T |
6: 70,194,386 (GRCm39) |
V7D |
probably damaging |
Het |
Klf10 |
G |
A |
15: 38,296,331 (GRCm39) |
R420W |
probably damaging |
Het |
Klrc2 |
C |
A |
6: 129,633,843 (GRCm39) |
W177C |
probably damaging |
Het |
Krit1 |
T |
A |
5: 3,856,451 (GRCm39) |
C15* |
probably null |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,347,780 (GRCm39) |
V2972I |
unknown |
Het |
Mapkapk5 |
T |
C |
5: 121,672,492 (GRCm39) |
D13G |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,838,489 (GRCm39) |
L804I |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mrto4 |
A |
G |
4: 139,075,770 (GRCm39) |
Y119H |
probably benign |
Het |
Nbeal2 |
G |
T |
9: 110,461,158 (GRCm39) |
A1635E |
possibly damaging |
Het |
Ndc1 |
T |
C |
4: 107,246,773 (GRCm39) |
S399P |
probably benign |
Het |
Ndufv2 |
A |
G |
17: 66,394,424 (GRCm39) |
I147T |
probably damaging |
Het |
Neb |
C |
A |
2: 52,052,142 (GRCm39) |
E382* |
probably null |
Het |
Nhsl3 |
C |
T |
4: 129,116,478 (GRCm39) |
E729K |
probably damaging |
Het |
Nme8 |
T |
A |
13: 19,880,861 (GRCm39) |
I32F |
probably damaging |
Het |
Obox5 |
T |
A |
7: 15,491,793 (GRCm39) |
|
probably null |
Het |
Or8g23 |
A |
G |
9: 38,971,065 (GRCm39) |
V299A |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,630,939 (GRCm39) |
M245L |
probably benign |
Het |
Pex5l |
A |
T |
3: 33,061,477 (GRCm39) |
|
probably null |
Het |
Phrf1 |
T |
G |
7: 140,840,616 (GRCm39) |
D1270E |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,382,790 (GRCm39) |
K277E |
possibly damaging |
Het |
Ppan |
T |
C |
9: 20,802,221 (GRCm39) |
V204A |
possibly damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,115,367 (GRCm39) |
N830I |
probably damaging |
Het |
Pxn |
C |
G |
5: 115,682,974 (GRCm39) |
A92G |
probably benign |
Het |
Qsox1 |
A |
G |
1: 155,666,742 (GRCm39) |
V249A |
probably benign |
Het |
Rgl3 |
T |
A |
9: 21,898,944 (GRCm39) |
*88C |
probably null |
Het |
Rps6kc1 |
A |
T |
1: 190,515,802 (GRCm39) |
W975R |
probably damaging |
Het |
Sash1 |
G |
T |
10: 8,656,368 (GRCm39) |
A208D |
possibly damaging |
Het |
Sox7 |
T |
C |
14: 64,185,449 (GRCm39) |
Y162H |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,128,375 (GRCm39) |
L171H |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,881,476 (GRCm39) |
Y577F |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tagln |
T |
C |
9: 45,842,177 (GRCm39) |
T139A |
probably benign |
Het |
Thbs3 |
T |
C |
3: 89,130,471 (GRCm39) |
|
probably null |
Het |
Tmem216 |
G |
A |
19: 10,529,155 (GRCm39) |
T131M |
possibly damaging |
Het |
Tmprss11c |
A |
G |
5: 86,404,249 (GRCm39) |
V142A |
probably benign |
Het |
Trarg1 |
C |
G |
11: 76,585,102 (GRCm39) |
A164G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubtf |
T |
C |
11: 102,199,128 (GRCm39) |
M511V |
probably null |
Het |
Ugt2b36 |
A |
T |
5: 87,214,114 (GRCm39) |
V510E |
probably damaging |
Het |
Vars2 |
G |
C |
17: 35,969,041 (GRCm39) |
P887A |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,004,980 (GRCm39) |
M206V |
possibly damaging |
Het |
Zbtb5 |
A |
G |
4: 44,993,990 (GRCm39) |
F465L |
probably benign |
Het |
Zfp119a |
G |
A |
17: 56,172,425 (GRCm39) |
Q473* |
probably null |
Het |
Zfp607a |
T |
G |
7: 27,577,269 (GRCm39) |
I113R |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,581,787 (GRCm39) |
L28H |
probably damaging |
Het |
Zmym6 |
C |
A |
4: 126,999,167 (GRCm39) |
N450K |
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 |
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'- TAAGTGGCTGGTCAAAGCAG -3'
(R):5'- AAGGTTAGCAGTGAGAGCCC -3'
Sequencing Primer
(F):5'- GCTGGTCAAAGCAGTGACTG -3'
(R):5'- GGAATGTAGGTCCTAGTGTATGCCAC -3'
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Posted On |
2016-07-22 |