Incidental Mutation 'IGL01025:Trim33'
| ID |
59877 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to A
at 103261234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
[ENSMUST00000198706]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029444
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
| 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: ENSMUST00000197365
|
| 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 |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
A |
4: 155,986,676 (GRCm39) |
V335M |
probably damaging |
Het |
| Apex1 |
C |
T |
14: 51,163,711 (GRCm39) |
L113F |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,100,429 (GRCm39) |
H1218Q |
possibly damaging |
Het |
| Cd33 |
C |
T |
7: 43,182,329 (GRCm39) |
V39M |
probably damaging |
Het |
| Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,874,054 (GRCm39) |
K1376R |
unknown |
Het |
| Cpd |
C |
T |
11: 76,686,439 (GRCm39) |
R963H |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,921 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,628,376 (GRCm39) |
Y189* |
probably null |
Het |
| Dock6 |
T |
C |
9: 21,723,103 (GRCm39) |
E1606G |
possibly damaging |
Het |
| Dusp4 |
A |
T |
8: 35,285,666 (GRCm39) |
E309V |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,162,789 (GRCm39) |
I600T |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,894,105 (GRCm39) |
V66A |
probably benign |
Het |
| Fktn |
T |
C |
4: 53,737,568 (GRCm39) |
L269P |
possibly damaging |
Het |
| Ftsj3 |
A |
G |
11: 106,141,185 (GRCm39) |
I645T |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,713 (GRCm39) |
H198R |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,523,539 (GRCm39) |
V474A |
probably damaging |
Het |
| Gm10295 |
T |
A |
7: 71,000,406 (GRCm39) |
D58V |
unknown |
Het |
| Hdlbp |
T |
C |
1: 93,357,891 (GRCm39) |
I337V |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,053,033 (GRCm39) |
V235A |
probably benign |
Het |
| Igfbp4 |
C |
T |
11: 98,939,069 (GRCm39) |
H30Y |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,736 (GRCm39) |
V490A |
probably damaging |
Het |
| Kcnj13 |
T |
G |
1: 87,314,700 (GRCm39) |
D174A |
probably benign |
Het |
| Krt7 |
T |
A |
15: 101,321,302 (GRCm39) |
L373Q |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,614,094 (GRCm39) |
V1288I |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,875,435 (GRCm39) |
D488G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,994 (GRCm39) |
E1121G |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,384,912 (GRCm39) |
N768D |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,622,196 (GRCm39) |
T48A |
probably damaging |
Het |
| Naglu |
C |
T |
11: 100,964,773 (GRCm39) |
P287S |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,939 (GRCm39) |
V951A |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,442,713 (GRCm39) |
M755K |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,052,586 (GRCm39) |
|
probably benign |
Het |
| Nt5dc1 |
C |
T |
10: 34,283,553 (GRCm39) |
A79T |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,251 (GRCm39) |
F104S |
probably damaging |
Het |
| Or6c205 |
A |
T |
10: 129,086,609 (GRCm39) |
I69F |
possibly damaging |
Het |
| Or8b47 |
A |
G |
9: 38,435,029 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,541,597 (GRCm39) |
L774P |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,484,981 (GRCm39) |
R322C |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,279,400 (GRCm39) |
G2973R |
probably benign |
Het |
| Plekhg5 |
G |
T |
4: 152,192,983 (GRCm39) |
D613Y |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,714,534 (GRCm39) |
|
probably null |
Het |
| Pramel31 |
T |
A |
4: 144,089,947 (GRCm39) |
L329Q |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,255 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,460,406 (GRCm39) |
S15P |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,094,272 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,239,515 (GRCm39) |
L143Q |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,426 (GRCm39) |
D130G |
possibly damaging |
Het |
| Stag1 |
A |
G |
9: 100,833,710 (GRCm39) |
T1108A |
possibly damaging |
Het |
| Sugp2 |
G |
A |
8: 70,695,185 (GRCm39) |
D53N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,629,568 (GRCm39) |
I14291T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,619,869 (GRCm39) |
V15933A |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,847 (GRCm39) |
I324S |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,301,717 (GRCm39) |
E2089G |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,918,075 (GRCm39) |
D57G |
probably benign |
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 |
|
|
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 |
|
R7325:Trim33
|
UTSW |
3 |
103,228,952 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2013-07-11 |
Incidental Mutation