Incidental Mutation 'R6331:Trim33'
| ID |
510897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
044485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103248925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 783
(S783P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102473
(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: S783P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: S783P
| 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: S783P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: S783P
| 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: ENSMUST00000197365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198706
AA Change: S354P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: S354P
| 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 |
|
| Meta Mutation Damage Score |
0.0576 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| A2ml1 |
T |
C |
6: 128,529,199 (GRCm39) |
D981G |
probably damaging |
Het |
| Abcc1 |
C |
A |
16: 14,282,920 (GRCm39) |
A1132D |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,519 (GRCm39) |
T364A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,983,989 (GRCm39) |
M1758L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,258,825 (GRCm39) |
V774A |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,915,172 (GRCm39) |
E1934G |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,774,092 (GRCm39) |
A341T |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,238,816 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,175 (GRCm39) |
I1150T |
probably benign |
Het |
| Brd10 |
C |
T |
19: 29,695,147 (GRCm39) |
V1449I |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,638,144 (GRCm39) |
T241A |
probably benign |
Het |
| Chd5 |
G |
T |
4: 152,466,865 (GRCm39) |
R1627S |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,785,908 (GRCm39) |
S322P |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,877,256 (GRCm39) |
C498* |
probably null |
Het |
| Diaph3 |
T |
G |
14: 87,103,976 (GRCm39) |
S803R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,354,991 (GRCm39) |
L10P |
probably damaging |
Het |
| Gcc2 |
T |
C |
10: 58,107,287 (GRCm39) |
V741A |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,194,162 (GRCm39) |
M119V |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,941,718 (GRCm39) |
S574P |
possibly damaging |
Het |
| Hapln4 |
T |
A |
8: 70,537,073 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
G |
18: 36,904,385 (GRCm39) |
V209A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,053,231 (GRCm39) |
F2521L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,724 (GRCm39) |
D1299G |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,253 (GRCm39) |
E325V |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 122,977,405 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,693,221 (GRCm39) |
N3266K |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 77,168,982 (GRCm39) |
|
probably null |
Het |
| Mtarc2 |
A |
G |
1: 184,551,525 (GRCm39) |
S304P |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,503,688 (GRCm39) |
N379S |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,908,037 (GRCm39) |
D1358E |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,901,968 (GRCm39) |
E939G |
probably damaging |
Het |
| Obox1 |
A |
G |
7: 15,289,294 (GRCm39) |
R70G |
probably benign |
Het |
| Or13c25 |
A |
G |
4: 52,911,399 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,144 (GRCm39) |
E180G |
probably benign |
Het |
| Or4a2 |
C |
T |
2: 89,248,695 (GRCm39) |
G21S |
probably benign |
Het |
| Or5m12 |
T |
C |
2: 85,734,560 (GRCm39) |
I279M |
probably benign |
Het |
| Otof |
T |
C |
5: 30,529,279 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Pklr |
A |
G |
3: 89,044,662 (GRCm39) |
I47V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,851,451 (GRCm39) |
S123T |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,198 (GRCm39) |
S337P |
probably damaging |
Het |
| Ptgfrn |
A |
C |
3: 100,952,936 (GRCm39) |
V766G |
possibly damaging |
Het |
| Ptpn11 |
T |
A |
5: 121,282,716 (GRCm39) |
H419L |
probably damaging |
Het |
| Rims3 |
T |
A |
4: 120,740,350 (GRCm39) |
V99E |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,313,571 (GRCm39) |
R228H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,361 (GRCm39) |
V300A |
probably damaging |
Het |
| Sdad1 |
T |
C |
5: 92,451,789 (GRCm39) |
D144G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,178 (GRCm39) |
Y22H |
possibly damaging |
Het |
| Slc39a1 |
A |
G |
3: 90,159,588 (GRCm39) |
K305R |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,014,034 (GRCm39) |
R414G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,753,500 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9b |
C |
T |
11: 50,022,324 (GRCm39) |
A20V |
possibly damaging |
Het |
| Tgfb3 |
G |
T |
12: 86,110,638 (GRCm39) |
D237E |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,431,073 (GRCm39) |
S234P |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,815 (GRCm39) |
N439S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,632,698 (GRCm39) |
Y12373N |
probably damaging |
Het |
| Tube1 |
G |
A |
10: 39,010,097 (GRCm39) |
V7I |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,088,410 (GRCm39) |
V265A |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,402 (GRCm39) |
H1550R |
possibly damaging |
Het |
| Usp33 |
A |
T |
3: 152,081,887 (GRCm39) |
M546L |
probably damaging |
Het |
| Uspl1 |
C |
A |
5: 149,151,097 (GRCm39) |
Q752K |
probably benign |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,655 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,521 (GRCm39) |
F245S |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,186,182 (GRCm39) |
S168P |
probably damaging |
Het |
| Wdr24 |
T |
G |
17: 26,044,650 (GRCm39) |
D168E |
possibly damaging |
Het |
| Zfp646 |
C |
T |
7: 127,482,853 (GRCm39) |
P1677S |
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 |
|
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 |
|
|
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'- AAGTGTTTTGTGCCATGAAAGG -3'
(R):5'- AGCTGACTCTTAAGAGCAGAAATAG -3'
Sequencing Primer
(F):5'- GTGCCATGAAAGGTAATTTTAAGGTC -3'
(R):5'- AAGAAATACTTAGCTTGTGTCAGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation