Incidental Mutation 'R0586:Trim33'
| ID |
55743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
038776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0586 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103217660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 202
(C202S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102473
(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: C202S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: C202S
| 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: C202S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: C202S
| 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
|
| Meta Mutation Damage Score |
0.2266 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,092,860 (GRCm39) |
V308E |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,356,418 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
C |
T |
4: 66,103,379 (GRCm39) |
V345M |
unknown |
Het |
| Brwd1 |
T |
C |
16: 95,844,286 (GRCm39) |
E756G |
probably damaging |
Het |
| Ccpg1 |
C |
T |
9: 72,909,103 (GRCm39) |
L135F |
probably benign |
Het |
| Cecr2 |
C |
T |
6: 120,734,845 (GRCm39) |
H694Y |
probably damaging |
Het |
| Cfh |
G |
A |
1: 140,110,920 (GRCm39) |
T14I |
probably damaging |
Het |
| Cfhr2 |
G |
A |
1: 139,741,172 (GRCm39) |
R268* |
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,738,350 (GRCm39) |
I53L |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
| Cnfn |
C |
T |
7: 25,067,256 (GRCm39) |
V98I |
probably benign |
Het |
| Cntnap1 |
C |
T |
11: 101,077,840 (GRCm39) |
R1122W |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,272,024 (GRCm39) |
E384V |
probably damaging |
Het |
| Ctr9 |
T |
C |
7: 110,648,705 (GRCm39) |
|
probably benign |
Het |
| Ctsj |
T |
A |
13: 61,151,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
C |
19: 39,501,934 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
C |
14: 68,046,481 (GRCm39) |
I767S |
probably damaging |
Het |
| Eftud2 |
T |
C |
11: 102,737,446 (GRCm39) |
T552A |
probably damaging |
Het |
| Epdr1 |
A |
G |
13: 19,778,715 (GRCm39) |
I25T |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,789,138 (GRCm39) |
D568V |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,836,516 (GRCm39) |
V145D |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,038,654 (GRCm39) |
E195G |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
| Fuz |
T |
C |
7: 44,547,982 (GRCm39) |
V183A |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,344,046 (GRCm39) |
S284P |
probably damaging |
Het |
| Hoxb4 |
G |
T |
11: 96,209,713 (GRCm39) |
G40C |
probably damaging |
Het |
| Kcnn1 |
T |
C |
8: 71,316,513 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
A |
15: 98,733,088 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,732 (GRCm39) |
V366A |
unknown |
Het |
| Ldlr |
G |
A |
9: 21,651,040 (GRCm39) |
R486H |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,795,658 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
A |
T |
6: 121,006,602 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,992,250 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,159,716 (GRCm39) |
H542Q |
probably benign |
Het |
| Opn4 |
A |
G |
14: 34,320,930 (GRCm39) |
|
probably benign |
Het |
| Or13a20 |
T |
C |
7: 140,231,976 (GRCm39) |
F28S |
probably benign |
Het |
| Or4a68 |
T |
A |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
| Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
| Or8g4 |
A |
T |
9: 39,662,414 (GRCm39) |
H244L |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,126 (GRCm39) |
N5D |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,661,382 (GRCm39) |
K1522R |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,594,335 (GRCm39) |
D1259E |
probably benign |
Het |
| Pogz |
C |
T |
3: 94,786,664 (GRCm39) |
A1084V |
probably damaging |
Het |
| Popdc3 |
G |
A |
10: 45,191,359 (GRCm39) |
V157M |
probably benign |
Het |
| Prrt4 |
T |
C |
6: 29,171,183 (GRCm39) |
Y423C |
probably damaging |
Het |
| Qrich1 |
C |
T |
9: 108,411,719 (GRCm39) |
H415Y |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,433,235 (GRCm39) |
N801D |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,525,124 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,650,445 (GRCm39) |
D356G |
probably null |
Het |
| Skint8 |
C |
G |
4: 111,794,126 (GRCm39) |
P172R |
probably damaging |
Het |
| Slc12a8 |
T |
G |
16: 33,478,600 (GRCm39) |
M643R |
possibly damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,271,113 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,640,321 (GRCm39) |
L272P |
probably damaging |
Het |
| Tcaf1 |
T |
A |
6: 42,650,473 (GRCm39) |
M869L |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,219 (GRCm39) |
N78S |
probably damaging |
Het |
| Tectb |
A |
T |
19: 55,170,356 (GRCm39) |
Y69F |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,237,101 (GRCm39) |
N187I |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,244,582 (GRCm39) |
|
probably null |
Het |
| Tnik |
G |
T |
3: 28,631,510 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
G |
T |
15: 102,018,020 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,891,118 (GRCm39) |
D487G |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,350 (GRCm39) |
I1145F |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,596 (GRCm39) |
T478A |
probably benign |
Het |
| Ube2e3 |
T |
C |
2: 78,750,334 (GRCm39) |
Y187H |
probably benign |
Het |
| Ubxn11 |
A |
G |
4: 133,836,963 (GRCm39) |
R64G |
possibly damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,366,487 (GRCm39) |
T407A |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,502 (GRCm39) |
S1325T |
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 |
|
|
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'- TCCAGGGAAATAACTCAAACTGCTTTGT -3'
(R):5'- AAACCAACTGCACTTGCATTATCTTCAC -3'
Sequencing Primer
(F):5'- AACTCAAACTGCTTTGTTCATGTC -3'
(R):5'- TCTTAGGGTGTGGAAGAGTAATC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation