Incidental Mutation 'R8326:Trim33'
| ID |
644093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
067726-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8326 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 103218770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 302
(C302*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029444
AA Change: C302*
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: C302*
| 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 null
Transcript: ENSMUST00000106860
AA Change: C302*
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: C302*
| 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 null
Transcript: ENSMUST00000197779
AA Change: C5*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,533,190 (GRCm39) |
T35A |
|
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Akt3 |
T |
C |
1: 176,877,611 (GRCm39) |
N386D |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,335,046 (GRCm39) |
H282L |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,309,675 (GRCm39) |
N180K |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,274,591 (GRCm39) |
S500G |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,311,274 (GRCm39) |
E3084K |
probably benign |
Het |
| Cyp2r1 |
G |
A |
7: 114,152,405 (GRCm39) |
T184I |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,296,602 (GRCm39) |
R49G |
probably damaging |
Het |
| Dcp1a |
C |
T |
14: 30,241,527 (GRCm39) |
Q446* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,008,452 (GRCm39) |
I791T |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,583,892 (GRCm39) |
V189D |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,582,788 (GRCm39) |
E142G |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,375,611 (GRCm39) |
D1132V |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,147,771 (GRCm39) |
M953T |
probably benign |
Het |
| Ecpas |
G |
T |
4: 58,847,093 (GRCm39) |
Q490K |
probably damaging |
Het |
| Ero1a |
T |
C |
14: 45,531,805 (GRCm39) |
H251R |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,415,841 (GRCm39) |
Y124C |
probably benign |
Het |
| Frmpd2 |
C |
A |
14: 33,232,992 (GRCm39) |
P404Q |
probably damaging |
Het |
| Gpr87 |
G |
T |
3: 59,102,395 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,305,319 (GRCm39) |
Y1217H |
unknown |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
T |
A |
14: 55,843,210 (GRCm39) |
D137E |
probably benign |
Het |
| Jup |
G |
T |
11: 100,272,571 (GRCm39) |
N280K |
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,765 (GRCm39) |
F351L |
probably damaging |
Het |
| Klk13 |
A |
T |
7: 43,376,136 (GRCm39) |
R270S |
probably benign |
Het |
| Msh6 |
C |
T |
17: 88,294,340 (GRCm39) |
R1032C |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,125,271 (GRCm39) |
V1855A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,111,714 (GRCm39) |
T138A |
probably damaging |
Het |
| Nfkbie |
C |
A |
17: 45,870,234 (GRCm39) |
T193K |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,452,471 (GRCm39) |
K613E |
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,567,481 (GRCm39) |
E322G |
possibly damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,586,809 (GRCm39) |
D74G |
probably damaging |
Het |
| Or5v1b |
T |
G |
17: 37,841,470 (GRCm39) |
S201A |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,938,014 (GRCm39) |
M304T |
probably benign |
Het |
| Parn |
A |
T |
16: 13,483,835 (GRCm39) |
N36K |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,164,650 (GRCm39) |
E618G |
probably benign |
Het |
| Prdm13 |
A |
G |
4: 21,679,557 (GRCm39) |
L311P |
unknown |
Het |
| Prkaa2 |
T |
C |
4: 104,893,495 (GRCm39) |
T485A |
possibly damaging |
Het |
| Prmt2 |
G |
T |
10: 76,053,247 (GRCm39) |
T256K |
probably benign |
Het |
| Rspry1 |
T |
C |
8: 95,366,217 (GRCm39) |
Y362H |
probably damaging |
Het |
| Slc16a14 |
A |
T |
1: 84,890,066 (GRCm39) |
I413N |
possibly damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,715,535 (GRCm39) |
T821A |
probably damaging |
Het |
| Spock2 |
A |
T |
10: 59,962,777 (GRCm39) |
K276N |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,785,084 (GRCm39) |
N257K |
probably benign |
Het |
| Taar7f |
T |
C |
10: 23,925,811 (GRCm39) |
L135P |
possibly damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,618 (GRCm39) |
F908S |
probably damaging |
Het |
| Tmem202 |
A |
T |
9: 59,426,500 (GRCm39) |
V222D |
probably benign |
Het |
| Tuba4a |
G |
A |
1: 75,195,265 (GRCm39) |
S1L |
|
Het |
| Tyrp1 |
G |
A |
4: 80,768,921 (GRCm39) |
E472K |
probably benign |
Het |
| V1ra8 |
A |
G |
6: 90,180,246 (GRCm39) |
I150V |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,180 (GRCm39) |
M686K |
possibly damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
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 |
|
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'- CAATGACACATCTAACCGTTTGAAC -3'
(R):5'- CGTTTAACAGTCACCTCCATACAAG -3'
Sequencing Primer
(F):5'- ACCGTTTGAACTTAGAAATAGCATG -3'
(R):5'- TTTCATATCATACATAGCCACTAGCC -3'
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| Posted On |
2020-09-02 |
Incidental Mutation