Incidental Mutation 'R0218:Simc1'
| ID |
33683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Simc1
|
| Ensembl Gene |
ENSMUSG00000043183 |
| Gene Name |
SUMO-interacting motifs containing 1 |
| Synonyms |
4732471D19Rik |
| MMRRC Submission |
038467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0218 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54674417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 922
(Y922H)
|
| 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 damaging
Transcript: ENSMUST00000121401
AA Change: Y922H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: Y922H
| 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 |
|
| Meta Mutation Damage Score |
0.1770 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
G |
8: 44,079,477 (GRCm39) |
Q249P |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,609,106 (GRCm39) |
|
probably benign |
Het |
| Cdkl1 |
A |
T |
12: 69,836,809 (GRCm39) |
D40E |
probably benign |
Het |
| Cdx1 |
A |
G |
18: 61,153,436 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
T |
A |
13: 49,801,108 (GRCm39) |
K103N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,093,862 (GRCm39) |
Y839H |
possibly damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,941 (GRCm39) |
L181* |
probably null |
Het |
| Ciapin1 |
G |
T |
8: 95,554,938 (GRCm39) |
Q173K |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,690 (GRCm39) |
N182Y |
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,667,650 (GRCm39) |
C270R |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,317,383 (GRCm39) |
S431P |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,791,611 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,181,992 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,652,767 (GRCm39) |
V730D |
possibly damaging |
Het |
| Fam174b |
A |
G |
7: 73,390,512 (GRCm39) |
T88A |
probably benign |
Het |
| Fancl |
A |
G |
11: 26,421,337 (GRCm39) |
K364E |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,188,906 (GRCm39) |
Y402H |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,598,123 (GRCm39) |
N324D |
possibly damaging |
Het |
| Hc |
G |
T |
2: 34,918,086 (GRCm39) |
F732L |
probably damaging |
Het |
| Heca |
T |
C |
10: 17,791,463 (GRCm39) |
M198V |
probably benign |
Het |
| Herc6 |
C |
A |
6: 57,596,586 (GRCm39) |
H509N |
probably benign |
Het |
| Irf2bpl |
A |
T |
12: 86,929,398 (GRCm39) |
M425K |
probably benign |
Het |
| Mael |
C |
T |
1: 166,066,159 (GRCm39) |
G26D |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,135,906 (GRCm39) |
T2241A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,701,894 (GRCm39) |
S505P |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,992,783 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
T |
7: 82,518,312 (GRCm39) |
E209V |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,154 (GRCm39) |
E279G |
possibly damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,093,801 (GRCm39) |
Y10* |
probably null |
Het |
| Nfe2l1 |
A |
T |
11: 96,718,439 (GRCm39) |
L32Q |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,818 (GRCm39) |
V285I |
probably benign |
Het |
| Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
| Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,342 (GRCm39) |
N204S |
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,639 (GRCm39) |
T171A |
probably benign |
Het |
| Ppp3cb |
A |
T |
14: 20,574,044 (GRCm39) |
C265S |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc25a39 |
A |
G |
11: 102,297,056 (GRCm39) |
F56L |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,976,948 (GRCm39) |
L211P |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,040,400 (GRCm39) |
S805G |
probably benign |
Het |
| Sra1 |
T |
C |
18: 36,809,662 (GRCm39) |
|
probably benign |
Het |
| Tas2r104 |
T |
G |
6: 131,662,055 (GRCm39) |
D218A |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,802,686 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,075,040 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
A |
6: 116,225,007 (GRCm39) |
L785* |
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,493,063 (GRCm39) |
E439G |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,901,072 (GRCm39) |
T334A |
probably benign |
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 |
|
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 |
|
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'- TTCCCCGAATGATGTGCAGAATCG -3'
(R):5'- TTTGGCCCATTCTCTGGCATGGAC -3'
Sequencing Primer
(F):5'- AAGTTGCTCTGCTAACCCAC -3'
(R):5'- ATTCTCTGGCATGGACTCTAATC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation