Incidental Mutation 'R1385:Trim33'
ID |
163204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim33
|
Ensembl Gene |
ENSMUSG00000033014 |
Gene Name |
tripartite motif-containing 33 |
Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
MMRRC Submission |
039447-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103218266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 272
(K272E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029444
AA Change: K272E
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029444 Gene: ENSMUSG00000033014 AA Change: K272E
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: K272E
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102473 Gene: ENSMUSG00000033014 AA Change: K272E
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: ENSMUST00000197779
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
|
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 |
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'- CTCTTCCACACCCTAAGACTTGGTAGA -3'
(R):5'- GCTGACCAGATGTTCCAACAGACTC -3'
Sequencing Primer
(F):5'- TTAAGAGCAAGTTACAAAGTTTTCAG -3'
(R):5'- GGCATACACATACACAGGTGTGTA -3'
|
Posted On |
2014-03-17 |