Incidental Mutation 'R0241:Simc1'
| ID |
59509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Simc1
|
| Ensembl Gene |
ENSMUSG00000043183 |
| Gene Name |
SUMO-interacting motifs containing 1 |
| Synonyms |
4732471D19Rik |
| MMRRC Submission |
038479-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0241 (G1)
|
| Quality Score |
91 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54698338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1319
(L1319F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026989]
[ENSMUST00000118072]
[ENSMUST00000121401]
[ENSMUST00000153065]
|
| AlphaFold |
E9Q6E9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026989
|
| SMART Domains |
Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P33MONOX
|
15 |
303 |
5.8e-133 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118072
AA Change: L418F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: L418F
| 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: L1319F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: L1319F
| 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: ENSMUST00000126506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153065
|
| SMART Domains |
Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P33MONOX
|
1 |
284 |
7e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153708
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,474,962 (GRCm39) |
I1575F |
probably damaging |
Het |
| Atp4a |
G |
T |
7: 30,416,560 (GRCm39) |
G446C |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
| Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,158,486 (GRCm39) |
T151A |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
| Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Cimap1d |
C |
T |
10: 79,480,564 (GRCm39) |
|
probably null |
Het |
| Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
| Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
| Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,163,878 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,509 (GRCm39) |
|
probably null |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,738,796 (GRCm39) |
|
probably null |
Het |
| Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,183,811 (GRCm39) |
|
probably benign |
Het |
| Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,010,300 (GRCm39) |
I153N |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,914,036 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
| Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
| Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,346,992 (GRCm39) |
|
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,032,890 (GRCm39) |
|
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,311,962 (GRCm39) |
C239R |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
| Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
A |
8: 13,115,356 (GRCm39) |
M124K |
probably benign |
Het |
| Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
| Rpl7 |
C |
G |
1: 16,173,446 (GRCm39) |
G101A |
possibly damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,037,924 (GRCm39) |
|
probably benign |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
| Tango6 |
C |
T |
8: 107,473,993 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,338 (GRCm39) |
Y241C |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Thop1 |
T |
A |
10: 80,916,079 (GRCm39) |
|
probably benign |
Het |
| Tmbim7 |
A |
T |
5: 3,716,866 (GRCm39) |
Y66F |
probably benign |
Het |
| Tmc8 |
C |
T |
11: 117,677,207 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf19 |
A |
G |
14: 61,211,041 (GRCm39) |
S216P |
possibly damaging |
Het |
| Trappc2l |
A |
G |
8: 123,341,132 (GRCm39) |
|
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,549,929 (GRCm39) |
R520G |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,795,655 (GRCm39) |
|
probably null |
Het |
| Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
| Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,025 (GRCm39) |
Y243C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
| Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
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 |
|
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'- GTGAGGCTCCCACAGTAATGCAAG -3'
(R):5'- TCTAAGTAGCTGGCGGTAGTCAGG -3'
Sequencing Primer
(F):5'- CAGTAATGCAAGTAAGTCTTGTGTCC -3'
(R):5'- GCGGTAGTCAGGAGGTATTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation