Incidental Mutation 'R8813:Trim33'
| ID |
672543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
068648-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103254052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 967
(T967A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(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: T967A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: T967A
| 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 |
possibly damaging
Transcript: ENSMUST00000106860
AA Change: T967A
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: T967A
| 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 |
|
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (48/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,482,622 (GRCm39) |
L62P |
probably damaging |
Het |
| Amotl2 |
T |
G |
9: 102,607,291 (GRCm39) |
S700A |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,549,942 (GRCm39) |
S1259P |
possibly damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,355 (GRCm39) |
E565K |
probably damaging |
Het |
| Clmp |
C |
T |
9: 40,692,549 (GRCm39) |
R273* |
probably null |
Het |
| Cops7b |
A |
T |
1: 86,528,846 (GRCm39) |
Q191L |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,054 (GRCm39) |
F312L |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,843,266 (GRCm39) |
C169Y |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,956,498 (GRCm39) |
N724I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,090,406 (GRCm39) |
V2831A |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,229,719 (GRCm39) |
G118W |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,104,937 (GRCm39) |
T1884K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,947,697 (GRCm39) |
E193G |
possibly damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,731 (GRCm39) |
S290C |
probably damaging |
Het |
| Eif1ad6 |
A |
G |
12: 87,668,593 (GRCm39) |
D75G |
probably damaging |
Het |
| Eif2ak4 |
C |
A |
2: 118,278,806 (GRCm39) |
T990K |
probably damaging |
Het |
| Erich3 |
A |
G |
3: 154,468,827 (GRCm39) |
D1093G |
unknown |
Het |
| H2-DMa |
T |
C |
17: 34,354,734 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,295,216 (GRCm39) |
D36N |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,647 (GRCm39) |
G241W |
probably damaging |
Het |
| Kdm6b |
GGGTGGTGGTGGTGGTGG |
GGGTGGTGGTGGTGGTGGTGG |
11: 69,297,655 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
TGG |
TGGGGG |
11: 69,297,658 (GRCm39) |
|
probably benign |
Het |
| Klk1b5 |
G |
T |
7: 43,496,549 (GRCm39) |
M160I |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,358,073 (GRCm39) |
Y98C |
probably damaging |
Het |
| Marcksl1 |
C |
T |
4: 129,408,999 (GRCm39) |
P193S |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nxf7 |
G |
A |
X: 134,484,515 (GRCm39) |
R513C |
possibly damaging |
Het |
| Or13a19 |
C |
A |
7: 139,902,793 (GRCm39) |
Y60* |
probably null |
Het |
| Or4a73 |
A |
T |
2: 89,420,730 (GRCm39) |
M243K |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,518 (GRCm39) |
Y281* |
probably null |
Het |
| Or7g32 |
T |
G |
9: 19,389,477 (GRCm39) |
D23A |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,895 (GRCm39) |
Y262N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,540,242 (GRCm39) |
M965L |
probably benign |
Het |
| Parp12 |
A |
G |
6: 39,073,508 (GRCm39) |
F439S |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,959,261 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,913 (GRCm39) |
N370I |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,812 (GRCm39) |
N1268D |
unknown |
Het |
| Pter |
T |
C |
2: 12,985,114 (GRCm39) |
V148A |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,500,027 (GRCm39) |
M540T |
probably damaging |
Het |
| Rnasel |
T |
A |
1: 153,629,641 (GRCm39) |
N52K |
probably damaging |
Het |
| Rragd |
A |
T |
4: 33,012,953 (GRCm39) |
I317F |
possibly damaging |
Het |
| Sla |
G |
T |
15: 66,664,127 (GRCm39) |
S81R |
probably benign |
Het |
| T |
A |
G |
17: 8,653,532 (GRCm39) |
E57G |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,630,265 (GRCm39) |
F748L |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,938,136 (GRCm39) |
W3073R |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Trpm1 |
T |
A |
7: 63,851,756 (GRCm39) |
M158K |
possibly damaging |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,424 (GRCm39) |
L226P |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,733 (GRCm39) |
V295M |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,778,566 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp11 |
T |
C |
5: 129,735,278 (GRCm39) |
D61G |
probably benign |
Het |
| Zscan4e |
C |
A |
7: 11,041,540 (GRCm39) |
E139* |
probably null |
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 |
|
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'- CAGGAACTAGTCATTGAGTTTATGCC -3'
(R):5'- AGGGCTGTTATAACAAGGGTC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GGCTGTTATAACAAGGGTCTAATATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation