Incidental Mutation 'R9732:Simc1'
| ID |
731493 |
| 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: 0.073)
|
| Stock # |
R9732 (G1)
|
| Quality Score |
109.467 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA to GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA
at 54673177 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,258,446 (GRCm39) |
S1007T |
probably benign |
Het |
| Akap10 |
A |
T |
11: 61,787,545 (GRCm39) |
C466S |
probably damaging |
Het |
| Apol9b |
C |
T |
15: 77,619,566 (GRCm39) |
P121S |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,743,438 (GRCm39) |
Y26N |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,528,297 (GRCm39) |
T346I |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,090,031 (GRCm39) |
I628T |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,775,446 (GRCm39) |
S609P |
probably damaging |
Het |
| Chst2 |
C |
T |
9: 95,287,951 (GRCm39) |
G132S |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Coq10a |
A |
G |
10: 128,199,516 (GRCm39) |
F253L |
probably benign |
Het |
| Cyp2t4 |
C |
T |
7: 26,854,657 (GRCm39) |
P46S |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,763,911 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
A |
10: 76,110,077 (GRCm39) |
I1180L |
probably benign |
Het |
| Dpp8 |
G |
T |
9: 64,970,862 (GRCm39) |
|
probably null |
Het |
| Efr3a |
T |
A |
15: 65,720,139 (GRCm39) |
N378K |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,373 (GRCm39) |
T237I |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,727,065 (GRCm39) |
S459T |
probably benign |
Het |
| Fam81b |
G |
A |
13: 76,399,985 (GRCm39) |
T91I |
probably benign |
Het |
| Fry |
A |
G |
5: 150,328,758 (GRCm39) |
E1297G |
probably benign |
Het |
| Gm11110 |
G |
A |
17: 57,410,382 (GRCm39) |
L39F |
unknown |
Het |
| Gm3233 |
G |
T |
10: 77,595,147 (GRCm39) |
Q124K |
unknown |
Het |
| Gm7145 |
C |
G |
1: 117,913,839 (GRCm39) |
H240Q |
probably benign |
Het |
| Gnrh1 |
G |
T |
14: 67,985,316 (GRCm39) |
R67L |
possibly damaging |
Het |
| Grip2 |
T |
A |
6: 91,761,686 (GRCm39) |
E236V |
probably damaging |
Het |
| H3c10 |
A |
T |
13: 21,902,186 (GRCm39) |
I120F |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,392,254 (GRCm39) |
E173* |
probably null |
Het |
| Hgf |
T |
A |
5: 16,820,748 (GRCm39) |
L632I |
probably damaging |
Het |
| Igsf11 |
T |
C |
16: 38,843,652 (GRCm39) |
V255A |
probably benign |
Het |
| Jmjd4 |
G |
T |
11: 59,341,339 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
C |
A |
15: 68,885,212 (GRCm39) |
N71K |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,930,353 (GRCm39) |
D1286G |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,196 (GRCm39) |
L27Q |
probably damaging |
Het |
| Macroh2a1 |
G |
C |
13: 56,243,976 (GRCm39) |
F183L |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,033,637 (GRCm39) |
F184I |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,959,425 (GRCm39) |
D237V |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,448,749 (GRCm39) |
D1803G |
probably damaging |
Het |
| Ncoa6 |
T |
G |
2: 155,244,636 (GRCm39) |
K1978T |
probably damaging |
Het |
| Nkain4 |
G |
A |
2: 180,585,901 (GRCm39) |
T54I |
probably damaging |
Het |
| Olig3 |
G |
A |
10: 19,233,151 (GRCm39) |
A259T |
probably benign |
Het |
| Or5w14 |
T |
C |
2: 87,541,489 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pacs1 |
A |
G |
19: 5,184,997 (GRCm39) |
W943R |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,138,797 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Polh |
A |
T |
17: 46,498,997 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptprq |
G |
C |
10: 107,412,767 (GRCm39) |
C1777W |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,476,740 (GRCm39) |
V127E |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,152,931 (GRCm39) |
S84P |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,562,406 (GRCm39) |
T321A |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 149,993,767 (GRCm39) |
A620T |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,381,863 (GRCm39) |
E155G |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,526,167 (GRCm39) |
H107Y |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,438,942 (GRCm39) |
D471E |
probably benign |
Het |
| Sema6a |
T |
A |
18: 47,381,925 (GRCm39) |
N874I |
probably damaging |
Het |
| Serinc4 |
C |
A |
2: 121,283,631 (GRCm39) |
W283L |
possibly damaging |
Het |
| Slc24a3 |
A |
T |
2: 145,458,591 (GRCm39) |
S524C |
probably damaging |
Het |
| Slc4a10 |
T |
G |
2: 62,135,086 (GRCm39) |
S1042R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,736,212 (GRCm39) |
V190D |
probably damaging |
Het |
| Sub1 |
T |
A |
15: 11,986,650 (GRCm39) |
I66F |
possibly damaging |
Het |
| Svop |
G |
A |
5: 114,201,142 (GRCm39) |
P109S |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,761,414 (GRCm39) |
P684L |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,652 (GRCm39) |
V670A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,088,162 (GRCm39) |
I792V |
probably benign |
Het |
| Tex22 |
A |
G |
12: 113,052,196 (GRCm39) |
T85A |
possibly damaging |
Het |
| Tmem151a |
C |
T |
19: 5,131,937 (GRCm39) |
S423N |
probably damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,727 (GRCm39) |
W685R |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,640,391 (GRCm39) |
F436L |
probably benign |
Het |
| Trim55 |
A |
T |
3: 19,716,039 (GRCm39) |
I200F |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,603,862 (GRCm39) |
R186* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,775,335 (GRCm39) |
C1677Y |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,769,206 (GRCm39) |
V2831I |
unknown |
Het |
| Tyrp1 |
T |
A |
4: 80,758,930 (GRCm39) |
S268T |
possibly damaging |
Het |
| Unc5d |
C |
T |
8: 29,381,319 (GRCm39) |
|
probably null |
Het |
| Usb1 |
G |
T |
8: 96,065,375 (GRCm39) |
V129L |
probably damaging |
Het |
| Usp22 |
G |
A |
11: 61,051,437 (GRCm39) |
T302M |
probably damaging |
Het |
| Vmn1r210 |
C |
A |
13: 23,011,379 (GRCm39) |
L302F |
possibly damaging |
Het |
| Zfp689 |
C |
A |
7: 127,044,283 (GRCm39) |
E116* |
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 |
|
R9449:Simc1
|
UTSW |
13 |
54,674,192 (GRCm39) |
missense |
probably benign |
0.15 |
|
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'- GATGCAGTCATCAGGAAGTGTG -3'
(R):5'- ACTGTATCACATCTCCTGGTGAC -3'
Sequencing Primer
(F):5'- CATCAGGAAGTGTGATGCAGTC -3'
(R):5'- GTGACAGCATCATTCCTGGTGAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation