Incidental Mutation 'R2088:Simc1'
| ID |
231611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Simc1
|
| Ensembl Gene |
ENSMUSG00000043183 |
| Gene Name |
SUMO-interacting motifs containing 1 |
| Synonyms |
4732471D19Rik |
| MMRRC Submission |
040093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R2088 (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 54689347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 284
(I284T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118072]
[ENSMUST00000121401]
[ENSMUST00000138869]
[ENSMUST00000159721]
|
| AlphaFold |
E9Q6E9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118072
AA Change: I284T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: I284T
| 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: I1185T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: I1185T
| 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 |
|
| Meta Mutation Damage Score |
0.4633 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,333,265 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
T |
A |
7: 51,237,454 (GRCm39) |
N759K |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 15,033,898 (GRCm39) |
T1072A |
possibly damaging |
Het |
| BC107364 |
T |
C |
3: 96,341,745 (GRCm39) |
T93A |
unknown |
Het |
| Canx |
C |
T |
11: 50,201,217 (GRCm39) |
E97K |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,631,126 (GRCm39) |
L62P |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,364,725 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,811 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,229,320 (GRCm39) |
S1923T |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,373 (GRCm39) |
I618N |
probably damaging |
Het |
| Cox17 |
C |
G |
16: 38,167,542 (GRCm39) |
P27R |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,708,986 (GRCm39) |
E675G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,837,575 (GRCm39) |
L990P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,382,033 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
A |
5: 73,222,804 (GRCm39) |
I1926F |
probably benign |
Het |
| Galnt4 |
A |
G |
10: 98,945,046 (GRCm39) |
D257G |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,428,629 (GRCm39) |
V344A |
probably benign |
Het |
| Gli1 |
T |
G |
10: 127,167,369 (GRCm39) |
Y628S |
probably damaging |
Het |
| Gsdmc3 |
A |
C |
15: 63,732,063 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
C |
11: 100,246,828 (GRCm39) |
T26A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,876,895 (GRCm39) |
G1200S |
probably benign |
Het |
| Insyn1 |
T |
C |
9: 58,406,288 (GRCm39) |
F66S |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 96,028,171 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
A |
11: 94,943,320 (GRCm39) |
I895F |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,230 (GRCm39) |
C421* |
probably null |
Het |
| Klra2 |
T |
C |
6: 131,219,789 (GRCm39) |
T131A |
probably damaging |
Het |
| Krt14 |
T |
C |
11: 100,094,949 (GRCm39) |
E426G |
possibly damaging |
Het |
| Limd2 |
A |
G |
11: 106,049,568 (GRCm39) |
F107L |
probably damaging |
Het |
| Lipo4 |
A |
T |
19: 33,477,469 (GRCm39) |
N318K |
possibly damaging |
Het |
| Mab21l2 |
T |
G |
3: 86,454,316 (GRCm39) |
D228A |
probably damaging |
Het |
| Moxd2 |
G |
A |
6: 40,861,901 (GRCm39) |
H224Y |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,162,624 (GRCm39) |
Y521C |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,818,297 (GRCm39) |
A317T |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,501,793 (GRCm39) |
S559P |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,576,783 (GRCm39) |
H2094Q |
unknown |
Het |
| Ndufa11 |
C |
A |
17: 57,024,922 (GRCm39) |
T28K |
probably damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,686 (GRCm39) |
T217A |
probably benign |
Het |
| Or4f4b |
G |
T |
2: 111,314,623 (GRCm39) |
A283S |
probably damaging |
Het |
| Orai2 |
C |
A |
5: 136,179,610 (GRCm39) |
R155L |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,005 (GRCm39) |
D582G |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,661,749 (GRCm39) |
E609G |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,097,109 (GRCm39) |
D871G |
possibly damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,538,121 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rhbg |
T |
C |
3: 88,154,765 (GRCm39) |
Y213C |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,700,562 (GRCm39) |
N243K |
possibly damaging |
Het |
| Rtp4 |
A |
T |
16: 23,431,963 (GRCm39) |
H165L |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,677,115 (GRCm39) |
M3245I |
probably benign |
Het |
| Sh2b2 |
T |
A |
5: 136,260,968 (GRCm39) |
M83L |
possibly damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,659,933 (GRCm39) |
S127P |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,785,073 (GRCm39) |
I192T |
possibly damaging |
Het |
| Tmem25 |
C |
A |
9: 44,707,383 (GRCm39) |
V239F |
possibly damaging |
Het |
| Tprkb |
A |
C |
6: 85,909,922 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,032,168 (GRCm39) |
V1040A |
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,719,744 (GRCm39) |
|
probably benign |
Het |
| Uhrf1 |
A |
T |
17: 56,625,089 (GRCm39) |
K544M |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,629,386 (GRCm39) |
H1294Q |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,146,560 (GRCm39) |
I437K |
probably damaging |
Het |
| Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,312,795 (GRCm39) |
I622F |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,730 (GRCm39) |
F398S |
probably 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 |
|
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'- CAGGAAAGCCTCTCTCCATG -3'
(R):5'- ATTCTGTTTCTAGGAGGCAGAG -3'
Sequencing Primer
(F):5'- AGGAAAGCCTCTCTCCATGTCTTC -3'
(R):5'- GTCCTGAAACTTACTCTGTAGACCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation