Incidental Mutation 'RF014:Trim33'
ID |
603391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim33
|
Ensembl Gene |
ENSMUSG00000033014 |
Gene Name |
tripartite motif-containing 33 |
Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
RF014 (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 103236408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 506
(V506A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
[ENSMUST00000198706]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029444
AA Change: V506A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029444 Gene: ENSMUSG00000033014 AA Change: V506A
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: V506A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102473 Gene: ENSMUSG00000033014 AA Change: V506A
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
AA Change: V170A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198706
AA Change: V77A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142585 Gene: ENSMUSG00000033014 AA Change: V77A
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
Validation Efficiency |
98% (49/50) |
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 |
5430401F13Rik |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,820 (GRCm39) |
|
probably benign |
Het |
A2ml1 |
T |
C |
6: 128,547,031 (GRCm39) |
N366S |
probably damaging |
Het |
Abca5 |
T |
C |
11: 110,170,580 (GRCm39) |
|
probably null |
Het |
Acaca |
T |
C |
11: 84,122,550 (GRCm39) |
V323A |
probably benign |
Het |
Agbl3 |
T |
A |
6: 34,776,293 (GRCm39) |
D266E |
possibly damaging |
Het |
Aggf1 |
A |
T |
13: 95,507,276 (GRCm39) |
S170T |
possibly damaging |
Het |
Amhr2 |
A |
T |
15: 102,361,589 (GRCm39) |
S467C |
probably benign |
Het |
Begain |
GCCGCC |
GCCGCCACCGCC |
12: 108,999,348 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
T |
10: 116,840,410 (GRCm39) |
Q280L |
probably damaging |
Het |
Calhm1 |
CTGTGGCTGTGG |
CTGTGGCTGTGGGTGTGGCTGTGG |
19: 47,129,704 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
A |
G |
19: 56,801,904 (GRCm39) |
L71S |
probably benign |
Het |
Ces1d |
C |
A |
8: 93,902,793 (GRCm39) |
|
probably null |
Het |
Chga |
AGC |
AGCGGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCTGC |
12: 102,527,664 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,436,225 (GRCm39) |
K212* |
probably null |
Het |
Col16a1 |
TTTTT |
TTTTTCTTTT |
4: 129,986,860 (GRCm39) |
|
probably benign |
Het |
Cpxm2 |
G |
T |
7: 131,672,592 (GRCm39) |
T319K |
possibly damaging |
Het |
Cyb5r4 |
TGCCCAGGGATGTGACAGACACAC |
TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC |
9: 86,922,468 (GRCm39) |
|
probably benign |
Het |
Dst |
T |
C |
1: 34,286,760 (GRCm39) |
S3364P |
probably benign |
Het |
Edc4 |
C |
T |
8: 106,611,232 (GRCm39) |
T61M |
probably benign |
Het |
Fndc5 |
A |
G |
4: 129,035,960 (GRCm39) |
H199R |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,422,623 (GRCm39) |
I470F |
possibly damaging |
Het |
Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
Igkv12-89 |
G |
GCAACGCCAC |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
Irf9 |
C |
T |
14: 55,843,334 (GRCm39) |
R179* |
probably null |
Het |
Jakmip1 |
A |
T |
5: 37,331,870 (GRCm39) |
K850M |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 33,860,303 (GRCm39) |
T1884I |
probably benign |
Het |
Krtap28-10 |
CCACCACAGCCACAGCCACCACAGCCACAG |
CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG |
1: 83,019,972 (GRCm39) |
|
probably benign |
Het |
Las1l |
CTCCTCCTTCTCCTCTTCCTC |
CTCCTC |
X: 94,984,263 (GRCm39) |
|
probably benign |
Het |
Lctl |
A |
G |
9: 64,026,212 (GRCm39) |
Y89C |
probably damaging |
Het |
Lpgat1 |
GCC |
GCCTCC |
1: 191,450,665 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
A |
T |
7: 54,821,953 (GRCm39) |
I157F |
probably damaging |
Het |
Lyz3 |
A |
G |
10: 117,070,322 (GRCm39) |
*152Q |
probably null |
Het |
Mamld1 |
GCA |
GCACCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
Mbd3l1 |
A |
T |
9: 18,396,296 (GRCm39) |
E140D |
possibly damaging |
Het |
Mlh3 |
T |
A |
12: 85,314,803 (GRCm39) |
Q461L |
probably benign |
Het |
Mto1 |
G |
T |
9: 78,355,598 (GRCm39) |
R7L |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,570,676 (GRCm39) |
S579C |
probably damaging |
Het |
Ngfr |
T |
C |
11: 95,469,027 (GRCm39) |
Y117C |
probably damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,553 (GRCm39) |
I205F |
possibly damaging |
Het |
Or13a23-ps1 |
A |
T |
7: 140,118,690 (GRCm39) |
M87L |
probably benign |
Het |
Or8d2b |
C |
A |
9: 38,789,196 (GRCm39) |
H241Q |
probably benign |
Het |
Plch2 |
A |
G |
4: 155,091,577 (GRCm39) |
S179P |
probably damaging |
Het |
Pogz |
T |
G |
3: 94,785,558 (GRCm39) |
S838A |
possibly damaging |
Het |
Polr1has |
CACCACCACCAC |
CACCACCACCACCACCACCACGACCACCACCAC |
17: 37,275,952 (GRCm39) |
|
probably benign |
Het |
Pot1b |
T |
A |
17: 55,981,106 (GRCm39) |
T303S |
probably benign |
Het |
Pou2f2 |
T |
A |
7: 24,815,162 (GRCm39) |
I72L |
unknown |
Het |
Ptpn4 |
A |
G |
1: 119,612,195 (GRCm39) |
|
probably null |
Het |
Ptprs |
A |
T |
17: 56,723,935 (GRCm39) |
I1686N |
probably damaging |
Het |
Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
Rnf14 |
T |
A |
18: 38,442,623 (GRCm39) |
V308E |
probably damaging |
Het |
Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,518 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,384,439 (GRCm39) |
T186A |
possibly damaging |
Het |
Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
Spmap2l |
CAGCGATCCTCCCCAGTCCCGCA |
CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA |
5: 77,164,247 (GRCm39) |
|
probably benign |
Het |
Stox1 |
T |
A |
10: 62,500,025 (GRCm39) |
H845L |
probably benign |
Het |
Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
Uckl1 |
T |
C |
2: 181,211,987 (GRCm39) |
D373G |
probably benign |
Het |
Vmn2r94 |
G |
T |
17: 18,473,549 (GRCm39) |
C492* |
probably null |
Het |
Wdr33 |
A |
G |
18: 32,014,326 (GRCm39) |
D396G |
probably damaging |
Het |
Ypel1 |
C |
T |
16: 16,915,282 (GRCm39) |
V109M |
probably damaging |
Het |
Zbtb11 |
A |
T |
16: 55,800,960 (GRCm39) |
I105L |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,744,617 (GRCm39) |
C268S |
probably benign |
Het |
Zfp36l1 |
T |
A |
12: 80,156,518 (GRCm39) |
M288L |
probably benign |
Het |
Zfp384 |
CC |
CCAAGGCCCAGGAC |
6: 125,013,429 (GRCm39) |
|
probably benign |
Het |
Zfp87 |
A |
G |
13: 74,523,173 (GRCm39) |
F15S |
probably benign |
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 |
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 |
|
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'- CCTAGCTCTCATTTGTGATGTACTG -3'
(R):5'- AACATCTGTGGGGCTGCTTG -3'
Sequencing Primer
(F):5'- ATGTACTGTTGGATGCTCTGAG -3'
(R):5'- CTGCTTGCCTAGGATGCTGC -3'
|
Posted On |
2019-12-04 |