Incidental Mutation 'R0471:Trim33'
| ID |
46741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
038671-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103234217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 56
(V56A)
|
| 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
AA Change: V485A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: V485A
| 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: V485A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: V485A
| 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 |
noncoding transcript
Transcript: ENSMUST00000196678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197779
AA Change: V149A
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198706
AA Change: V56A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: V56A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198969
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,075,891 (GRCm39) |
|
probably null |
Het |
| Adam33 |
C |
A |
2: 130,896,399 (GRCm39) |
G437C |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,579,377 (GRCm39) |
M1K |
probably null |
Het |
| Amotl2 |
C |
A |
9: 102,597,718 (GRCm39) |
P126Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,580,275 (GRCm39) |
M576K |
possibly damaging |
Het |
| Apob |
C |
A |
12: 8,040,406 (GRCm39) |
A581E |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,328,907 (GRCm39) |
D44E |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C9orf72 |
G |
A |
4: 35,193,257 (GRCm39) |
T232I |
probably benign |
Het |
| Ccdc65 |
A |
T |
15: 98,615,348 (GRCm39) |
H118L |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,039,204 (GRCm39) |
E523G |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,731,999 (GRCm39) |
|
probably benign |
Het |
| Cilk1 |
G |
T |
9: 78,062,799 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
G |
6: 129,378,570 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,392 (GRCm39) |
T400A |
probably benign |
Het |
| Cpne4 |
T |
G |
9: 104,899,481 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,419,985 (GRCm39) |
R249* |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,579,380 (GRCm39) |
I678V |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,036,407 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
T |
13: 38,377,326 (GRCm39) |
K1704* |
probably null |
Het |
| Eif2b2 |
T |
C |
12: 85,266,957 (GRCm39) |
F121S |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,561,379 (GRCm39) |
V69A |
possibly damaging |
Het |
| Epn2 |
T |
C |
11: 61,426,134 (GRCm39) |
Q281R |
probably damaging |
Het |
| Fgf3 |
A |
C |
7: 144,396,547 (GRCm39) |
D187A |
probably damaging |
Het |
| Galnt18 |
C |
A |
7: 111,378,506 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
C |
T |
5: 144,968,402 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,768,528 (GRCm39) |
I679T |
possibly damaging |
Het |
| Itpkb |
A |
G |
1: 180,245,820 (GRCm39) |
E779G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,696,477 (GRCm39) |
V27M |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,355,578 (GRCm39) |
R422L |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,858,858 (GRCm39) |
A231V |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,650,561 (GRCm39) |
S1422P |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,009,860 (GRCm39) |
Q176L |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,379,229 (GRCm39) |
E192G |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,862,025 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
G |
T |
16: 80,997,772 (GRCm39) |
|
probably benign |
Het |
| Nip7 |
T |
C |
8: 107,783,949 (GRCm39) |
L63P |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,138,450 (GRCm39) |
|
probably benign |
Het |
| Nup98 |
A |
T |
7: 101,788,004 (GRCm39) |
V1022D |
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,744 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5d43 |
A |
G |
2: 88,104,559 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,894,633 (GRCm39) |
I270T |
probably benign |
Het |
| Or7g28 |
A |
T |
9: 19,272,177 (GRCm39) |
L158* |
probably null |
Het |
| P4ha2 |
T |
C |
11: 54,008,434 (GRCm39) |
Y214H |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,795,407 (GRCm39) |
F184L |
possibly damaging |
Het |
| Parpbp |
T |
A |
10: 87,929,569 (GRCm39) |
R426S |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,359 (GRCm39) |
Y246* |
probably null |
Het |
| Pik3cg |
T |
A |
12: 32,244,770 (GRCm39) |
T895S |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,738,426 (GRCm39) |
Y178H |
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,425,486 (GRCm39) |
R1197L |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,700 (GRCm39) |
E3296G |
possibly damaging |
Het |
| Svs3a |
A |
G |
2: 164,131,801 (GRCm39) |
K123R |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,304,006 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,909,685 (GRCm39) |
H717R |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
| Trim24 |
T |
G |
6: 37,892,130 (GRCm39) |
V151G |
possibly damaging |
Het |
| Trim67 |
C |
A |
8: 125,521,397 (GRCm39) |
T253K |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,703,928 (GRCm39) |
E698G |
probably damaging |
Het |
| Tspan14 |
T |
C |
14: 40,637,353 (GRCm39) |
D145G |
probably damaging |
Het |
| Ushbp1 |
G |
A |
8: 71,847,021 (GRCm39) |
Q204* |
probably null |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,721 (GRCm39) |
N257K |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,394,598 (GRCm39) |
|
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,666,169 (GRCm39) |
D560N |
probably damaging |
Het |
| Zscan21 |
T |
C |
5: 138,123,402 (GRCm39) |
V27A |
probably benign |
Het |
| Zzef1 |
A |
C |
11: 72,813,937 (GRCm39) |
E2842A |
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 |
|
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'- GCCTGCATTTGGAATTGGATTGACTC -3'
(R):5'- AGACCTGAAAAGCAGCCTGACTTAAAG -3'
Sequencing Primer
(F):5'- tgactcaagagttcaaagttaacc -3'
(R):5'- CAGCCTGACTTAAAGAGAGTTTCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation