Incidental Mutation 'R7325:Trim33'
| ID |
568805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
045419-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103228952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 353
(F353L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
[ENSMUST00000198706]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029444
AA Change: F353L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: F353L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
134 |
N/A |
INTRINSIC |
|
PHD
|
138 |
199 |
9.85e0 |
SMART |
|
RING
|
139 |
198 |
2.12e-8 |
SMART |
|
BBOX
|
226 |
273 |
1.24e-9 |
SMART |
|
RING
|
231 |
293 |
2.01e0 |
SMART |
|
BBOX
|
285 |
326 |
1.54e-10 |
SMART |
|
BBC
|
333 |
459 |
7.55e-45 |
SMART |
|
low complexity region
|
540 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
PHD
|
902 |
945 |
4.15e-11 |
SMART |
|
BROMO
|
972 |
1095 |
3.74e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106860
AA Change: F353L
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: F353L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
134 |
N/A |
INTRINSIC |
|
PHD
|
138 |
199 |
9.85e0 |
SMART |
|
RING
|
139 |
198 |
2.12e-8 |
SMART |
|
BBOX
|
226 |
273 |
1.24e-9 |
SMART |
|
RING
|
231 |
293 |
2.01e0 |
SMART |
|
BBOX
|
285 |
326 |
1.54e-10 |
SMART |
|
BBC
|
333 |
459 |
7.55e-45 |
SMART |
|
low complexity region
|
540 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
PHD
|
902 |
945 |
4.15e-11 |
SMART |
|
BROMO
|
972 |
1078 |
3.52e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198706
|
| SMART Domains |
Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBC
|
1 |
30 |
9e-11 |
BLAST |
|
low complexity region
|
111 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
344 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,571,711 (GRCm39) |
Q402L |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,869,917 (GRCm39) |
T638A |
probably benign |
Het |
| Agtr1a |
A |
C |
13: 30,565,890 (GRCm39) |
K318N |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 90,777,294 (GRCm39) |
T1095A |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,637 (GRCm39) |
I207N |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,620,599 (GRCm39) |
L484P |
possibly damaging |
Het |
| Astn2 |
C |
T |
4: 65,460,906 (GRCm39) |
S1076N |
probably benign |
Het |
| Baat |
C |
A |
4: 49,490,213 (GRCm39) |
L290F |
probably benign |
Het |
| Boll |
T |
C |
1: 55,343,757 (GRCm39) |
Y222C |
probably damaging |
Het |
| Bphl |
A |
T |
13: 34,234,324 (GRCm39) |
I147F |
possibly damaging |
Het |
| Cadps2 |
T |
G |
6: 23,409,934 (GRCm39) |
D766A |
unknown |
Het |
| Cd300lb |
T |
A |
11: 114,815,858 (GRCm39) |
K210M |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,185 (GRCm39) |
Q797R |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,917,209 (GRCm39) |
S255C |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,141,963 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
A |
16: 48,826,184 (GRCm39) |
M417K |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
| Dennd5b |
T |
A |
6: 148,922,068 (GRCm39) |
K815N |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,350,620 (GRCm39) |
V547A |
probably benign |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,697,460 (GRCm39) |
|
probably null |
Het |
| Flg2 |
T |
A |
3: 93,110,679 (GRCm39) |
N902K |
unknown |
Het |
| Fyttd1 |
T |
A |
16: 32,704,618 (GRCm39) |
N76K |
probably benign |
Het |
| Gins1 |
T |
A |
2: 150,758,086 (GRCm39) |
D57E |
probably benign |
Het |
| Gm5565 |
G |
C |
5: 146,095,171 (GRCm39) |
|
probably null |
Het |
| Gpsm2 |
T |
C |
3: 108,610,244 (GRCm39) |
Y72C |
probably damaging |
Het |
| Hace1 |
C |
A |
10: 45,465,603 (GRCm39) |
S53* |
probably null |
Het |
| Insig2 |
A |
G |
1: 121,234,666 (GRCm39) |
V188A |
possibly damaging |
Het |
| Ism1 |
T |
C |
2: 139,598,963 (GRCm39) |
V312A |
probably damaging |
Het |
| Jmy |
A |
T |
13: 93,609,251 (GRCm39) |
Y353N |
probably damaging |
Het |
| Maz |
A |
C |
7: 126,624,725 (GRCm39) |
V265G |
probably benign |
Het |
| Mtmr14 |
T |
A |
6: 113,246,509 (GRCm39) |
I426N |
probably damaging |
Het |
| Or1e34 |
C |
T |
11: 73,779,101 (GRCm39) |
M32I |
probably benign |
Het |
| Or5b113 |
A |
G |
19: 13,342,001 (GRCm39) |
E3G |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,413 (GRCm39) |
N464K |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,440 (GRCm39) |
H525Q |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Podn |
C |
T |
4: 107,874,899 (GRCm39) |
|
probably null |
Het |
| Prim1 |
A |
G |
10: 127,858,788 (GRCm39) |
D232G |
probably null |
Het |
| Prrt1 |
T |
A |
17: 34,851,161 (GRCm39) |
M283K |
possibly damaging |
Het |
| Rgs9 |
A |
T |
11: 109,167,407 (GRCm39) |
I65N |
probably damaging |
Het |
| Scgb2b26 |
C |
A |
7: 33,643,782 (GRCm39) |
V53L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,965,422 (GRCm39) |
P1010Q |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
| Slc17a6 |
G |
T |
7: 51,294,766 (GRCm39) |
A158S |
probably damaging |
Het |
| Slc9a9 |
C |
T |
9: 94,594,951 (GRCm39) |
H154Y |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,934,951 (GRCm39) |
K379E |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,962,948 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
T |
C |
4: 83,353,507 (GRCm39) |
I182T |
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,470,260 (GRCm39) |
V856A |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,103,495 (GRCm39) |
N265I |
probably damaging |
Het |
| Tespa1 |
A |
T |
10: 130,197,910 (GRCm39) |
N311Y |
probably damaging |
Het |
| Tpmt |
G |
A |
13: 47,194,960 (GRCm39) |
Q14* |
probably null |
Het |
| Upp1 |
T |
C |
11: 9,084,743 (GRCm39) |
V154A |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,369,052 (GRCm39) |
I1747T |
|
Het |
| Vmn1r47 |
T |
C |
6: 89,999,254 (GRCm39) |
S129P |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,249 (GRCm39) |
Y81C |
probably benign |
Het |
| Ybx2 |
A |
T |
11: 69,831,181 (GRCm39) |
T259S |
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,179,285 (GRCm39) |
T1107A |
probably benign |
Het |
| Zfp583 |
C |
T |
7: 6,319,585 (GRCm39) |
A476T |
probably damaging |
Het |
|
| Other mutations in Trim33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Trim33
|
APN |
3 |
103,237,498 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL00981:Trim33
|
APN |
3 |
103,259,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL01010:Trim33
|
APN |
3 |
103,254,031 (GRCm39) |
nonsense |
probably null |
|
|
IGL01025:Trim33
|
APN |
3 |
103,261,234 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01082:Trim33
|
APN |
3 |
103,234,175 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02245:Trim33
|
APN |
3 |
103,254,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02291:Trim33
|
APN |
3 |
103,234,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Trim33
|
APN |
3 |
103,218,289 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03400:Trim33
|
APN |
3 |
103,236,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
abilene
|
UTSW |
3 |
103,228,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Bemoaned
|
UTSW |
3 |
103,234,109 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Excision
|
UTSW |
3 |
103,251,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Peaked
|
UTSW |
3 |
103,244,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
Pike
|
UTSW |
3 |
103,218,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
westworld
|
UTSW |
3 |
103,234,217 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0143:Trim33
|
UTSW |
3 |
103,259,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0471:Trim33
|
UTSW |
3 |
103,234,217 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0513:Trim33
|
UTSW |
3 |
103,217,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Trim33
|
UTSW |
3 |
103,259,306 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Trim33
|
UTSW |
3 |
103,217,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1103:Trim33
|
UTSW |
3 |
103,218,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1157:Trim33
|
UTSW |
3 |
103,261,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Trim33
|
UTSW |
3 |
103,260,913 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1331:Trim33
|
UTSW |
3 |
103,217,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1385:Trim33
|
UTSW |
3 |
103,218,266 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1397:Trim33
|
UTSW |
3 |
103,217,750 (GRCm39) |
unclassified |
probably benign |
|
|
R1785:Trim33
|
UTSW |
3 |
103,236,536 (GRCm39) |
frame shift |
probably null |
|
|
R1848:Trim33
|
UTSW |
3 |
103,231,956 (GRCm39) |
unclassified |
probably benign |
|
|
R1903:Trim33
|
UTSW |
3 |
103,244,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Trim33
|
UTSW |
3 |
103,228,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3878:Trim33
|
UTSW |
3 |
103,259,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4156:Trim33
|
UTSW |
3 |
103,217,630 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4281:Trim33
|
UTSW |
3 |
103,236,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4570:Trim33
|
UTSW |
3 |
103,237,481 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4809:Trim33
|
UTSW |
3 |
103,236,572 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4904:Trim33
|
UTSW |
3 |
103,238,963 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5168:Trim33
|
UTSW |
3 |
103,248,997 (GRCm39) |
nonsense |
probably null |
|
|
R5458:Trim33
|
UTSW |
3 |
103,237,496 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5910:Trim33
|
UTSW |
3 |
103,251,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Trim33
|
UTSW |
3 |
103,244,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6331:Trim33
|
UTSW |
3 |
103,248,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6636:Trim33
|
UTSW |
3 |
103,261,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6642:Trim33
|
UTSW |
3 |
103,244,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6783:Trim33
|
UTSW |
3 |
103,259,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Trim33
|
UTSW |
3 |
103,259,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7220:Trim33
|
UTSW |
3 |
103,234,109 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7374:Trim33
|
UTSW |
3 |
103,217,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7430:Trim33
|
UTSW |
3 |
103,218,219 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7438:Trim33
|
UTSW |
3 |
103,253,956 (GRCm39) |
splice site |
probably benign |
|
|
R7491:Trim33
|
UTSW |
3 |
103,233,464 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8001:Trim33
|
UTSW |
3 |
103,218,831 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8127:Trim33
|
UTSW |
3 |
103,239,043 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8326:Trim33
|
UTSW |
3 |
103,218,770 (GRCm39) |
nonsense |
probably null |
|
|
R8334:Trim33
|
UTSW |
3 |
103,261,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8813:Trim33
|
UTSW |
3 |
103,254,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8828:Trim33
|
UTSW |
3 |
103,236,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8894:Trim33
|
UTSW |
3 |
103,218,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Trim33
|
UTSW |
3 |
103,237,453 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9433:Trim33
|
UTSW |
3 |
103,228,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9495:Trim33
|
UTSW |
3 |
103,239,074 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9514:Trim33
|
UTSW |
3 |
103,239,074 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9564:Trim33
|
UTSW |
3 |
103,238,965 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9595:Trim33
|
UTSW |
3 |
103,259,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Trim33
|
UTSW |
3 |
103,261,146 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9784:Trim33
|
UTSW |
3 |
103,244,823 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
RF005:Trim33
|
UTSW |
3 |
103,187,528 (GRCm39) |
frame shift |
probably null |
|
|
RF007:Trim33
|
UTSW |
3 |
103,187,533 (GRCm39) |
small deletion |
probably benign |
|
|
RF014:Trim33
|
UTSW |
3 |
103,236,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF061:Trim33
|
UTSW |
3 |
103,187,533 (GRCm39) |
small deletion |
probably benign |
|
|
RF064:Trim33
|
UTSW |
3 |
103,187,511 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Trim33
|
UTSW |
3 |
103,261,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGACAGGTGACCAGCAG -3'
(R):5'- AAACCCCAGTCATCCTTCTG -3'
Sequencing Primer
(F):5'- GACAGGTGACCAGCAGATTATTTC -3'
(R):5'- ACTCCAGAGGTAGGTACATCTCTTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation