Incidental Mutation 'R0143:Trim33'
| ID |
22428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
038428-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0143 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103259417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1035
(D1035E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
[ENSMUST00000198706]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029444
AA Change: D1035E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: D1035E
| 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: D1035E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: D1035E
| 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 |
unknown
Transcript: ENSMUST00000197365
AA Change: D228E
|
| 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 |
|
| Meta Mutation Damage Score |
0.0586 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (76/78) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,988,288 (GRCm39) |
I145N |
probably benign |
Het |
| Ankrd1 |
G |
A |
19: 36,096,713 (GRCm39) |
A38V |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,576,268 (GRCm39) |
E500G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,916,890 (GRCm39) |
T419A |
probably damaging |
Het |
| B3galt2 |
A |
T |
1: 143,523,072 (GRCm39) |
N403Y |
possibly damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,193 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,324,693 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,237,857 (GRCm39) |
V17A |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,550,387 (GRCm39) |
L379Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,837,336 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,071 (GRCm39) |
D258N |
probably damaging |
Het |
| Ddx39a |
T |
C |
8: 84,447,179 (GRCm39) |
V113A |
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,179,671 (GRCm39) |
H643L |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,413,640 (GRCm39) |
T334A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Dtx4 |
G |
A |
19: 12,463,846 (GRCm39) |
T312I |
probably damaging |
Het |
| Dusp18 |
C |
T |
11: 3,847,243 (GRCm39) |
R78C |
probably benign |
Het |
| Fes |
A |
C |
7: 80,033,643 (GRCm39) |
F203V |
probably benign |
Het |
| Fhad1 |
C |
A |
4: 141,656,957 (GRCm39) |
|
probably benign |
Het |
| Gjb2 |
T |
C |
14: 57,337,526 (GRCm39) |
|
silent |
Het |
| Gm5828 |
T |
C |
1: 16,838,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
A |
C |
11: 98,557,080 (GRCm39) |
E65A |
probably damaging |
Het |
| Hck |
T |
A |
2: 152,976,140 (GRCm39) |
|
probably null |
Het |
| Henmt1 |
A |
T |
3: 108,861,118 (GRCm39) |
H47L |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,099 (GRCm39) |
F566L |
probably damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,617 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
T |
C |
3: 101,342,917 (GRCm39) |
I518T |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,793,193 (GRCm39) |
F223L |
probably benign |
Het |
| Isoc2a |
T |
C |
7: 4,894,331 (GRCm39) |
|
probably null |
Het |
| Krt73 |
T |
A |
15: 101,709,208 (GRCm39) |
R200W |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,429,811 (GRCm39) |
F420L |
probably damaging |
Het |
| Mep1b |
T |
C |
18: 21,228,164 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
G |
T |
3: 88,443,562 (GRCm39) |
A213S |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,276,558 (GRCm39) |
F218L |
probably damaging |
Het |
| Ncf1 |
G |
T |
5: 134,255,991 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,053,433 (GRCm39) |
D2032G |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,471 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,202 (GRCm39) |
I34V |
probably benign |
Het |
| Or9i1b |
A |
C |
19: 13,896,614 (GRCm39) |
I77L |
probably damaging |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,375,448 (GRCm39) |
W525R |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,131 (GRCm39) |
I799N |
probably damaging |
Het |
| Poldip3 |
G |
A |
15: 83,012,144 (GRCm39) |
L372F |
probably damaging |
Het |
| Polg2 |
C |
A |
11: 106,668,352 (GRCm39) |
V174L |
probably benign |
Het |
| Prrt4 |
C |
G |
6: 29,170,670 (GRCm39) |
G594A |
probably damaging |
Het |
| Prss1 |
A |
G |
6: 41,440,522 (GRCm39) |
D199G |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,973,823 (GRCm39) |
Q207L |
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,123,074 (GRCm39) |
D334G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,253,929 (GRCm39) |
C622G |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,865,635 (GRCm39) |
D84E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,785,982 (GRCm39) |
S432T |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,088 (GRCm39) |
V123E |
probably benign |
Het |
| Tnpo3 |
A |
G |
6: 29,565,651 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
A |
C |
11: 117,643,811 (GRCm39) |
N1481H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,389 (GRCm39) |
S234P |
probably damaging |
Het |
| Tor1aip2 |
A |
T |
1: 155,935,294 (GRCm39) |
T10S |
probably benign |
Het |
| Tpsab1 |
T |
A |
17: 25,562,418 (GRCm39) |
H303L |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,228,010 (GRCm39) |
V407D |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,737,920 (GRCm39) |
V402A |
possibly damaging |
Het |
| Ube4b |
C |
T |
4: 149,439,914 (GRCm39) |
R646H |
possibly damaging |
Het |
| Usp8 |
C |
A |
2: 126,597,009 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,233 (GRCm39) |
I1871F |
probably benign |
Het |
| Zfp345 |
T |
A |
2: 150,314,475 (GRCm39) |
Q354L |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,023,402 (GRCm39) |
|
probably benign |
Het |
| Zfp81 |
G |
A |
17: 33,554,095 (GRCm39) |
H240Y |
possibly damaging |
Het |
| Zfp830 |
A |
G |
11: 82,655,994 (GRCm39) |
D266G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAACCATTCGAACCAGCATGTATCCT -3'
(R):5'- CCTATTGAACCACATCTCCCTTTGGAAA -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- GCCAATACTCTATAGGTTGGAAGCT -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation