Incidental Mutation 'R8894:Trim33'
| ID |
677868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
068697-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8894 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103218807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 315
(L315F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029444
AA Change: L315F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: L315F
| 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 damaging
Transcript: ENSMUST00000106860
AA Change: L315F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: L315F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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 |
|---|
| 4931429L15Rik |
C |
T |
9: 46,216,397 (GRCm39) |
V291M |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,847,368 (GRCm39) |
Y744S |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,407,639 (GRCm39) |
E237G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,087,375 (GRCm39) |
D416E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,377,668 (GRCm39) |
M1217K |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,064,001 (GRCm39) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,806,077 (GRCm39) |
S66P |
probably damaging |
Het |
| Clpsl2 |
T |
C |
17: 28,769,645 (GRCm39) |
C36R |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,750 (GRCm39) |
L744F |
possibly damaging |
Het |
| Crybg3 |
T |
A |
16: 59,342,552 (GRCm39) |
E980D |
probably damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,671 (GRCm39) |
V302E |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,670 (GRCm39) |
|
probably benign |
Het |
| Dhx35 |
G |
C |
2: 158,676,795 (GRCm39) |
A410P |
possibly damaging |
Het |
| Dlg2 |
A |
T |
7: 91,614,946 (GRCm39) |
H295L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,383,048 (GRCm39) |
M1172L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,373 (GRCm39) |
S850G |
probably benign |
Het |
| Dst |
A |
T |
1: 34,213,214 (GRCm39) |
M1369L |
possibly damaging |
Het |
| Fcrl6 |
T |
C |
1: 172,426,856 (GRCm39) |
N30S |
probably benign |
Het |
| Fibp |
A |
T |
19: 5,513,309 (GRCm39) |
Q208L |
probably benign |
Het |
| Foxc1 |
T |
G |
13: 31,992,205 (GRCm39) |
S339A |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,907,402 (GRCm39) |
C3196R |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,979,176 (GRCm39) |
W649* |
probably null |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,555 (GRCm39) |
N245S |
possibly damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,244,400 (GRCm39) |
I229V |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,408,378 (GRCm39) |
G1286R |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,388,629 (GRCm39) |
I543V |
probably damaging |
Het |
| Lipn |
A |
T |
19: 34,062,248 (GRCm39) |
*401L |
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,347,449 (GRCm39) |
N3082S |
unknown |
Het |
| Magi1 |
A |
T |
6: 93,663,586 (GRCm39) |
F1117Y |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mpp4 |
A |
G |
1: 59,197,743 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
G |
7: 141,280,758 (GRCm39) |
C371W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,380,036 (GRCm39) |
N779K |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,336,619 (GRCm39) |
L1066P |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,467,951 (GRCm39) |
L302P |
probably damaging |
Het |
| Nudt21 |
C |
A |
8: 94,755,498 (GRCm39) |
G146W |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,940 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,465 (GRCm39) |
L288Q |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,809 (GRCm39) |
M116R |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,370 (GRCm39) |
F250I |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,273 (GRCm39) |
|
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,962,592 (GRCm39) |
N620Y |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,925,206 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
G |
5: 94,596,399 (GRCm39) |
C479G |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Ptprr |
T |
A |
10: 115,884,250 (GRCm39) |
D102E |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,119 (GRCm39) |
|
probably null |
Het |
| Rimbp2 |
T |
A |
5: 128,850,454 (GRCm39) |
D943V |
possibly damaging |
Het |
| Rsrc2 |
G |
T |
5: 123,878,793 (GRCm39) |
R113S |
unknown |
Het |
| Sim1 |
T |
A |
10: 50,786,626 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,068,529 (GRCm39) |
F124L |
|
Het |
| Sort1 |
T |
C |
3: 108,246,228 (GRCm39) |
F402L |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,853,688 (GRCm39) |
C47R |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,091 (GRCm39) |
E664V |
probably damaging |
Het |
| Tmppe |
A |
T |
9: 114,230,260 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,001,038 (GRCm39) |
D356G |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,725,212 (GRCm39) |
E1839G |
unknown |
Het |
| Trgv4 |
T |
C |
13: 19,369,627 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim17 |
T |
A |
11: 58,859,536 (GRCm39) |
M250K |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,746 (GRCm39) |
S247P |
probably benign |
Het |
| Vmn2r33 |
T |
A |
7: 7,566,809 (GRCm39) |
Y101F |
probably benign |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,197 (GRCm39) |
D388G |
|
Het |
| Wdr36 |
C |
T |
18: 32,970,340 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
T |
A |
11: 50,791,843 (GRCm39) |
I67F |
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 |
|
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 |
|
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'- GACACATCTAACCGTTTGAACTTAG -3'
(R):5'- GTTTAACAGTCACCTCCATACAAG -3'
Sequencing Primer
(F):5'- ACCGTTTGAACTTAGAAATAGCATG -3'
(R):5'- TTTCATATCATACATAGCCACTAGCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation