Incidental Mutation 'R5910:Trim33'
| ID |
460904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
044107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103251892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 914
(C914R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
[ENSMUST00000198706]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029444
AA Change: C914R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: C914R
| 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: C914R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: C914R
| 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 |
unknown
Transcript: ENSMUST00000197365
AA Change: C107R
|
| 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 |
|
| Meta Mutation Damage Score |
0.9718 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
95% (93/98) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,645,076 (GRCm39) |
N976D |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,037 (GRCm39) |
R188W |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,016,470 (GRCm39) |
V327D |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,039,493 (GRCm39) |
I408T |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,743,217 (GRCm39) |
S933G |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,178,691 (GRCm39) |
D106G |
probably damaging |
Het |
| Arhgap22 |
A |
T |
14: 33,088,572 (GRCm39) |
H351L |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,542,327 (GRCm39) |
Y310C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,359,380 (GRCm39) |
S2804R |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,807,770 (GRCm39) |
L163P |
possibly damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,645,967 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,213,600 (GRCm39) |
V1495A |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,492 (GRCm39) |
S447P |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,768,710 (GRCm39) |
T778I |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,043 (GRCm39) |
N170K |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,151 (GRCm39) |
L1979Q |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,289,514 (GRCm39) |
E846D |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,926,900 (GRCm39) |
K308E |
possibly damaging |
Het |
| Dcst1 |
T |
A |
3: 89,257,731 (GRCm39) |
T680S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,376,445 (GRCm39) |
L1410P |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,646,578 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,581,760 (GRCm39) |
E34V |
probably benign |
Het |
| Eif4e2 |
T |
A |
1: 87,148,696 (GRCm39) |
Y64N |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,784,928 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
T |
16: 47,893,826 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
G |
T |
10: 79,808,855 (GRCm39) |
V202L |
probably benign |
Het |
| Gsdmc4 |
G |
A |
15: 63,767,101 (GRCm39) |
S223F |
possibly damaging |
Het |
| H2bc14 |
A |
G |
13: 21,906,470 (GRCm39) |
N68S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,987,651 (GRCm39) |
H183R |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,859,331 (GRCm39) |
M652V |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,726,193 (GRCm39) |
F13L |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,281 (GRCm39) |
K271R |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,412,947 (GRCm39) |
K156N |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,687,973 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,231,069 (GRCm39) |
V1194L |
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,804,370 (GRCm39) |
F384L |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,774 (GRCm39) |
Y287H |
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,844 (GRCm39) |
M238T |
probably benign |
Het |
| Lbp |
G |
A |
2: 158,166,477 (GRCm39) |
V344I |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,739,439 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
A |
11: 61,384,447 (GRCm39) |
M1L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,048 (GRCm39) |
T2665A |
possibly damaging |
Het |
| Ncln |
A |
T |
10: 81,331,912 (GRCm39) |
|
probably null |
Het |
| Nfxl1 |
T |
C |
5: 72,697,708 (GRCm39) |
R347G |
probably benign |
Het |
| Npnt |
C |
A |
3: 132,612,179 (GRCm39) |
C231F |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,330,743 (GRCm39) |
H1070L |
probably benign |
Het |
| Nrxn1 |
G |
T |
17: 91,011,746 (GRCm39) |
Y294* |
probably null |
Het |
| Or4c126 |
A |
G |
2: 89,823,782 (GRCm39) |
D15G |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,429 (GRCm39) |
Y126H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,948,022 (GRCm39) |
H2341R |
possibly damaging |
Het |
| Paqr3 |
T |
C |
5: 97,243,887 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,796 (GRCm39) |
F709L |
probably benign |
Het |
| Phf12 |
G |
A |
11: 77,918,224 (GRCm39) |
R812Q |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,696 (GRCm39) |
L216Q |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,579,331 (GRCm39) |
L140P |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,045,769 (GRCm39) |
|
probably null |
Het |
| Prkcd |
A |
T |
14: 30,317,938 (GRCm39) |
N548K |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,657,620 (GRCm39) |
D361G |
probably benign |
Het |
| Rpl9 |
A |
T |
5: 65,546,044 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,272,912 (GRCm39) |
T211S |
probably benign |
Het |
| Rusc1 |
C |
T |
3: 88,999,027 (GRCm39) |
G252S |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,337,318 (GRCm39) |
T60A |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,218,423 (GRCm39) |
T305P |
probably benign |
Het |
| Slc18b1 |
T |
A |
10: 23,700,565 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,608,861 (GRCm39) |
|
probably null |
Het |
| Tekt5 |
A |
T |
16: 10,205,017 (GRCm39) |
|
probably null |
Het |
| Tlnrd1 |
T |
A |
7: 83,533,693 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,685,462 (GRCm39) |
|
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,814,719 (GRCm39) |
I461V |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,467 (GRCm39) |
K643E |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,849,738 (GRCm39) |
T1442I |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,026,415 (GRCm39) |
M107V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,445 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,553,370 (GRCm39) |
I914N |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,237,665 (GRCm39) |
T1107A |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,896,122 (GRCm39) |
C811* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,270,432 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
A |
T |
6: 34,868,422 (GRCm39) |
I433N |
possibly damaging |
Het |
| Zfp770 |
G |
C |
2: 114,026,713 (GRCm39) |
S452* |
probably null |
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 |
|
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'- CTGGAGAACCACGTGAAGAC -3'
(R):5'- TCAGCTTCACTATCTGCAGC -3'
Sequencing Primer
(F):5'- AGACTGAACCTACAGATATCAGTG -3'
(R):5'- TCTGCAGCTTTTTATTAAAGAACTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation