Incidental Mutation 'R6195:Trim33'
| ID |
502836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
044335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 103244848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000029444
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
| 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
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198850
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (76/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,142 (GRCm39) |
|
probably null |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,659,623 (GRCm39) |
V359I |
probably damaging |
Het |
| Abtb1 |
T |
C |
6: 88,817,718 (GRCm39) |
E50G |
probably benign |
Het |
| Agbl2 |
T |
A |
2: 90,643,657 (GRCm39) |
D792E |
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,885,611 (GRCm39) |
N705K |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef7 |
C |
T |
8: 11,872,017 (GRCm39) |
T701I |
probably damaging |
Het |
| Atg10 |
G |
T |
13: 91,356,555 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,068,926 (GRCm39) |
I116M |
possibly damaging |
Het |
| Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
| Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
| Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
| Creb3 |
A |
G |
4: 43,566,346 (GRCm39) |
D260G |
probably benign |
Het |
| Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,966,321 (GRCm39) |
K1097E |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
| Dok3 |
T |
C |
13: 55,671,389 (GRCm39) |
N394S |
probably benign |
Het |
| Dpcd |
A |
G |
19: 45,565,458 (GRCm39) |
D144G |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
| Eif4e1b |
A |
G |
13: 54,932,018 (GRCm39) |
N34S |
probably null |
Het |
| F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,004,119 (GRCm39) |
H782Q |
probably damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
T |
C |
15: 58,509,806 (GRCm39) |
S1423P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
| Fxn |
G |
A |
19: 24,239,407 (GRCm39) |
R162C |
probably damaging |
Het |
| Fxr2 |
C |
T |
11: 69,543,099 (GRCm39) |
T632M |
probably benign |
Het |
| Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
| Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
| Golga7b |
A |
T |
19: 42,251,886 (GRCm39) |
D44V |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,274,127 (GRCm39) |
S1416P |
probably damaging |
Het |
| Hoxa11 |
G |
A |
6: 52,222,681 (GRCm39) |
R7C |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,873,475 (GRCm39) |
T68S |
possibly damaging |
Het |
| Insyn2a |
T |
C |
7: 134,520,377 (GRCm39) |
D51G |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,628,131 (GRCm39) |
S540P |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,643,077 (GRCm39) |
C34* |
probably null |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,939 (GRCm39) |
L117P |
probably damaging |
Het |
| Mad2l1 |
G |
T |
6: 66,514,612 (GRCm39) |
G94C |
possibly damaging |
Het |
| Malrd1 |
C |
A |
2: 15,700,137 (GRCm39) |
H661Q |
probably damaging |
Het |
| Mical3 |
T |
A |
6: 120,993,796 (GRCm39) |
|
probably benign |
Het |
| Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
| Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,901,805 (GRCm39) |
F997L |
possibly damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,613 (GRCm39) |
R46H |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
| Or5ac23 |
A |
G |
16: 59,149,785 (GRCm39) |
V29A |
possibly damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
| Pcdhb7 |
G |
A |
18: 37,475,709 (GRCm39) |
V282I |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,648 (GRCm39) |
D523G |
possibly damaging |
Het |
| Pigx |
G |
A |
16: 31,903,404 (GRCm39) |
T219I |
probably damaging |
Het |
| Plch1 |
G |
T |
3: 63,648,210 (GRCm39) |
P399Q |
probably damaging |
Het |
| Pvrig-ps |
T |
A |
5: 138,340,537 (GRCm39) |
F74I |
possibly damaging |
Het |
| Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
| Serpina9 |
T |
A |
12: 103,967,666 (GRCm39) |
H243L |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
| Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,051,713 (GRCm39) |
E6G |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
A |
5: 142,750,928 (GRCm39) |
K1217N |
unknown |
Het |
| Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,994 (GRCm39) |
D9E |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,180,572 (GRCm39) |
F143L |
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 |
|
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'- TGGAAGATGCTGGCTCAAGTAGT -3'
(R):5'- AGTACCTCTTGCTTTCCGGAGTC -3'
Sequencing Primer
(F):5'- TATCTCAGGCAGTCATCTAC -3'
(R):5'- GTCTCCGCTTGCTAAATGCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation