Incidental Mutation 'R0761:Simc1'
ID |
70102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Simc1
|
Ensembl Gene |
ENSMUSG00000043183 |
Gene Name |
SUMO-interacting motifs containing 1 |
Synonyms |
4732471D19Rik |
MMRRC Submission |
038941-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R0761 (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 54674387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 912
(Y912H)
|
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: Y912H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113676 Gene: ENSMUSG00000043183 AA Change: Y912H
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 |
0.2785 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,833 (GRCm39) |
Y133C |
probably benign |
Het |
Adcy5 |
G |
A |
16: 35,091,195 (GRCm39) |
|
probably benign |
Het |
Asb17 |
A |
G |
3: 153,550,052 (GRCm39) |
K28R |
probably damaging |
Het |
Bbs10 |
G |
T |
10: 111,135,244 (GRCm39) |
C119F |
probably damaging |
Het |
Camk2g |
G |
A |
14: 20,816,280 (GRCm39) |
Q119* |
probably null |
Het |
Cdh18 |
A |
T |
15: 23,226,838 (GRCm39) |
I46L |
possibly damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,135 (GRCm39) |
|
probably benign |
Het |
Clmn |
T |
A |
12: 104,747,817 (GRCm39) |
N577Y |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crocc |
T |
C |
4: 140,774,387 (GRCm39) |
E63G |
probably benign |
Het |
Crocc |
T |
C |
4: 140,757,087 (GRCm39) |
T965A |
probably benign |
Het |
Cryzl2 |
A |
G |
1: 157,293,294 (GRCm39) |
I132V |
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,103,073 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
T |
C |
7: 110,645,479 (GRCm39) |
S569P |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,255,203 (GRCm39) |
|
probably benign |
Het |
Dcp2 |
G |
A |
18: 44,543,300 (GRCm39) |
S286N |
probably benign |
Het |
Dgkz |
C |
T |
2: 91,775,696 (GRCm39) |
R189H |
probably benign |
Het |
Dst |
A |
G |
1: 34,221,848 (GRCm39) |
T2551A |
probably benign |
Het |
Kcna4 |
T |
A |
2: 107,126,417 (GRCm39) |
S384T |
probably benign |
Het |
Klhl17 |
T |
C |
4: 156,317,204 (GRCm39) |
|
probably null |
Het |
Kmt2e |
C |
A |
5: 23,708,032 (GRCm39) |
S1865* |
probably null |
Het |
L3mbtl1 |
G |
A |
2: 162,807,967 (GRCm39) |
R534H |
probably damaging |
Het |
Lmnb2 |
A |
T |
10: 80,742,088 (GRCm39) |
M1K |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,075,947 (GRCm39) |
D1784G |
probably damaging |
Het |
Lrrc34 |
A |
G |
3: 30,685,425 (GRCm39) |
|
probably null |
Het |
Megf10 |
C |
A |
18: 57,421,048 (GRCm39) |
Y895* |
probably null |
Het |
Mesd |
G |
T |
7: 83,544,951 (GRCm39) |
A143S |
probably damaging |
Het |
Mfap3l |
G |
T |
8: 61,124,615 (GRCm39) |
V286L |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,542,489 (GRCm39) |
D717E |
probably benign |
Het |
Nudt12 |
A |
T |
17: 59,318,064 (GRCm39) |
D60E |
probably benign |
Het |
Nup205 |
C |
T |
6: 35,173,363 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or2j3 |
A |
T |
17: 38,616,282 (GRCm39) |
H23Q |
probably benign |
Het |
Or4a75 |
T |
C |
2: 89,448,179 (GRCm39) |
D119G |
probably damaging |
Het |
Or5w19 |
C |
T |
2: 87,698,880 (GRCm39) |
P182S |
possibly damaging |
Het |
Pacs2 |
T |
A |
12: 113,023,688 (GRCm39) |
|
probably benign |
Het |
Pcdha9 |
T |
A |
18: 37,133,016 (GRCm39) |
L695* |
probably null |
Het |
Pira12 |
A |
T |
7: 3,896,978 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
G |
11: 8,804,375 (GRCm39) |
S1739P |
probably damaging |
Het |
Polr1e |
C |
A |
4: 45,027,392 (GRCm39) |
D207E |
probably damaging |
Het |
Polr3f |
T |
A |
2: 144,376,327 (GRCm39) |
V142E |
probably damaging |
Het |
Psma6 |
T |
A |
12: 55,459,127 (GRCm39) |
W170R |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,750,191 (GRCm39) |
Y3114H |
probably benign |
Het |
Rps6ka5 |
C |
T |
12: 100,537,141 (GRCm39) |
A530T |
probably damaging |
Het |
Tnfrsf1b |
T |
C |
4: 144,942,670 (GRCm39) |
D371G |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,195,681 (GRCm39) |
V1235A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,577,102 (GRCm39) |
E24597G |
probably damaging |
Het |
Ubr2 |
G |
A |
17: 47,294,242 (GRCm39) |
P297L |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,186,560 (GRCm39) |
|
probably null |
Het |
Xpo4 |
A |
G |
14: 57,850,840 (GRCm39) |
F355L |
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 |
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'- GATATCTCAGCTTCATCCTCTTCAAG -3'
(R):5'- ATTCTCTGGCATGGACTCTAATC -3'
|
Posted On |
2013-09-30 |