Incidental Mutation 'R6364:Simc1'
ID |
513436 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Simc1
|
Ensembl Gene |
ENSMUSG00000043183 |
Gene Name |
SUMO-interacting motifs containing 1 |
Synonyms |
4732471D19Rik |
MMRRC Submission |
044514-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6364 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
54651592-54699103 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 54672413 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 254
(Q254*)
|
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 null
Transcript: ENSMUST00000121401
AA Change: Q254*
|
SMART Domains |
Protein: ENSMUSP00000113676 Gene: ENSMUSG00000043183 AA Change: Q254*
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 |
0.9712 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,869,673 (GRCm39) |
Y234C |
possibly damaging |
Het |
Ambra1 |
C |
A |
2: 91,603,661 (GRCm39) |
H548Q |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,546,328 (GRCm39) |
|
probably null |
Het |
Apol11b |
A |
G |
15: 77,522,258 (GRCm39) |
V13A |
possibly damaging |
Het |
Arhgdib |
C |
T |
6: 136,909,253 (GRCm39) |
|
probably null |
Het |
B3galt1 |
T |
A |
2: 67,949,016 (GRCm39) |
S244T |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,214,633 (GRCm39) |
I274V |
probably benign |
Het |
Bfsp2 |
A |
T |
9: 103,325,827 (GRCm39) |
V272D |
probably damaging |
Het |
Blm |
A |
T |
7: 80,144,274 (GRCm39) |
C782* |
probably null |
Het |
Cfi |
G |
A |
3: 129,666,495 (GRCm39) |
S406N |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
A |
7: 24,972,248 (GRCm39) |
H660N |
possibly damaging |
Het |
Cops3 |
A |
G |
11: 59,726,230 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,950,939 (GRCm39) |
V502I |
possibly damaging |
Het |
Dync2i1 |
A |
T |
12: 116,205,352 (GRCm39) |
D412E |
probably damaging |
Het |
Epop |
A |
G |
11: 97,519,513 (GRCm39) |
S199P |
probably benign |
Het |
Evi5 |
G |
T |
5: 107,989,979 (GRCm39) |
P80Q |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,818,997 (GRCm39) |
V623A |
possibly damaging |
Het |
Fam83c |
T |
C |
2: 155,676,443 (GRCm39) |
D109G |
probably damaging |
Het |
Fam83d |
T |
C |
2: 158,625,179 (GRCm39) |
|
probably null |
Het |
Flacc1 |
G |
T |
1: 58,697,531 (GRCm39) |
A403D |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,952 (GRCm39) |
N71D |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,756,402 (GRCm39) |
R1016G |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,507,878 (GRCm39) |
E396G |
possibly damaging |
Het |
Htra2 |
C |
A |
6: 83,030,027 (GRCm39) |
V311F |
probably damaging |
Het |
Kif6 |
A |
T |
17: 49,927,651 (GRCm39) |
T33S |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,514,634 (GRCm39) |
I3070V |
probably null |
Het |
Krtap5-2 |
A |
T |
7: 141,728,800 (GRCm39) |
C293* |
probably null |
Het |
Lrp3 |
T |
A |
7: 34,903,134 (GRCm39) |
D404V |
probably benign |
Het |
LTO1 |
A |
G |
7: 144,473,005 (GRCm39) |
D105G |
probably benign |
Het |
Mc2r |
T |
G |
18: 68,540,607 (GRCm39) |
I229L |
probably benign |
Het |
Mtnr1b |
A |
G |
9: 15,774,300 (GRCm39) |
M253T |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,094,909 (GRCm39) |
N531S |
probably benign |
Het |
Niban3 |
G |
A |
8: 72,051,733 (GRCm39) |
G23S |
probably benign |
Het |
Npr2 |
T |
A |
4: 43,643,622 (GRCm39) |
I550N |
probably damaging |
Het |
Npy6r |
T |
C |
18: 44,409,578 (GRCm39) |
I333T |
possibly damaging |
Het |
Nup88 |
C |
T |
11: 70,838,612 (GRCm39) |
R468Q |
probably benign |
Het |
Nup98 |
G |
A |
7: 101,825,522 (GRCm39) |
T422I |
probably damaging |
Het |
Or10aa1 |
T |
A |
1: 173,869,778 (GRCm39) |
H87Q |
possibly damaging |
Het |
Otud4 |
A |
G |
8: 80,372,970 (GRCm39) |
N96S |
probably damaging |
Het |
Paqr6 |
T |
C |
3: 88,273,265 (GRCm39) |
F86L |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,138,035 (GRCm39) |
T90S |
probably benign |
Het |
Ptbp2 |
A |
T |
3: 119,534,091 (GRCm39) |
N23K |
probably damaging |
Het |
Ralgapb |
G |
T |
2: 158,304,029 (GRCm39) |
G596V |
probably damaging |
Het |
Rdm1 |
G |
A |
11: 101,521,068 (GRCm39) |
R94H |
probably benign |
Het |
Rergl |
A |
T |
6: 139,477,746 (GRCm39) |
F28I |
probably damaging |
Het |
Rif1 |
G |
T |
2: 51,997,681 (GRCm39) |
S1000I |
probably damaging |
Het |
Rnf141 |
C |
T |
7: 110,420,516 (GRCm39) |
A163T |
possibly damaging |
Het |
Scaf4 |
G |
A |
16: 90,057,136 (GRCm39) |
Q72* |
probably null |
Het |
Sdk1 |
G |
T |
5: 141,948,464 (GRCm39) |
S603I |
probably benign |
Het |
Sdsl |
T |
C |
5: 120,598,674 (GRCm39) |
I147M |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,495 (GRCm39) |
N85D |
probably benign |
Het |
Serpinf2 |
A |
G |
11: 75,327,315 (GRCm39) |
I204T |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,964,146 (GRCm39) |
S795G |
probably benign |
Het |
Slc30a3 |
G |
A |
5: 31,246,083 (GRCm39) |
P216S |
possibly damaging |
Het |
Smim14 |
T |
A |
5: 65,610,639 (GRCm39) |
I53F |
probably benign |
Het |
Sp3 |
T |
C |
2: 72,801,285 (GRCm39) |
T243A |
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,745,465 (GRCm39) |
F164L |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,543,910 (GRCm39) |
F4403L |
probably damaging |
Het |
Tbc1d30 |
T |
C |
10: 121,130,630 (GRCm39) |
T267A |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
Tmbim6 |
T |
C |
15: 99,304,066 (GRCm39) |
L113P |
probably damaging |
Het |
Tmcc1 |
G |
A |
6: 116,020,722 (GRCm39) |
|
probably benign |
Het |
Tomm7 |
A |
G |
5: 24,049,028 (GRCm39) |
L15P |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,691,875 (GRCm39) |
Y263C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,985,733 (GRCm39) |
F456S |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vmn2r108 |
A |
G |
17: 20,691,260 (GRCm39) |
I421T |
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,964,649 (GRCm39) |
E676G |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,331,598 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
C |
A |
2: 168,754,186 (GRCm39) |
G25V |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,763,079 (GRCm39) |
P326H |
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 |
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 |
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'- TACAGCTCTCTTCAGATGTTAGC -3'
(R):5'- GGCCTGGAACATCTTGAGGTAG -3'
Sequencing Primer
(F):5'- CAAGCAATCAGAGGGCCTCTTTG -3'
(R):5'- ACATCTTGAGGTAGGCCCAG -3'
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Posted On |
2018-04-27 |