Incidental Mutation 'R4022:Trim28'
| ID |
313302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim28
|
| Ensembl Gene |
ENSMUSG00000005566 |
| Gene Name |
tripartite motif-containing 28 |
| Synonyms |
MommeD9, KRIP-1, Tif1b, KAP-1 |
| MMRRC Submission |
040956-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4022 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12758079-12764959 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 12762485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005705]
[ENSMUST00000005711]
[ENSMUST00000211369]
[ENSMUST00000210587]
[ENSMUST00000211626]
[ENSMUST00000211344]
|
| AlphaFold |
Q62318 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005705
|
| SMART Domains |
Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
57 |
N/A |
INTRINSIC |
|
RING
|
66 |
121 |
1.2e-7 |
SMART |
|
BBOX
|
149 |
196 |
2.97e-12 |
SMART |
|
BBOX
|
205 |
246 |
1.11e-11 |
SMART |
|
BBC
|
253 |
379 |
7.92e-39 |
SMART |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
576 |
N/A |
INTRINSIC |
|
PHD
|
627 |
670 |
2.16e-9 |
SMART |
|
RING
|
628 |
669 |
8.32e0 |
SMART |
|
BROMO
|
697 |
801 |
6.5e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005711
|
| SMART Domains |
Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Snf7
|
17 |
187 |
9.5e-50 |
PFAM |
|
coiled coil region
|
196 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209577
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted disruption of this gene develop normally until the blastocyst stage and undergo uterine implantation, but become arrested at the early egg-cylinder stage, fail to gastrulate, and are completely resorbed by E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
T |
A |
2: 26,733,812 (GRCm39) |
Y131F |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
A |
4: 126,262,386 (GRCm39) |
N388I |
probably benign |
Het |
| Arfgef2 |
G |
T |
2: 166,715,865 (GRCm39) |
V1385L |
probably benign |
Het |
| Camk2a |
A |
T |
18: 61,097,000 (GRCm39) |
K28* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,904,560 (GRCm39) |
Y385* |
probably null |
Het |
| Cd209g |
A |
T |
8: 4,185,955 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Cdh22 |
T |
C |
2: 164,999,173 (GRCm39) |
T220A |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,611,174 (GRCm39) |
C562S |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,913,465 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Erbb2 |
T |
G |
11: 98,326,123 (GRCm39) |
C966W |
probably benign |
Het |
| Exoc1 |
C |
T |
5: 76,697,417 (GRCm39) |
T405I |
possibly damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,157,475 (GRCm39) |
N108S |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,352,409 (GRCm39) |
E157G |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,829 (GRCm39) |
V290M |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,089,425 (GRCm39) |
V2A |
possibly damaging |
Het |
| Ilrun |
T |
C |
17: 28,005,236 (GRCm39) |
E107G |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,674,927 (GRCm39) |
R23H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lax1 |
C |
T |
1: 133,610,774 (GRCm39) |
G105S |
probably benign |
Het |
| Lin7c |
G |
T |
2: 109,726,790 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
T |
C |
1: 132,866,852 (GRCm39) |
V639A |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,269,504 (GRCm39) |
S576P |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,377 (GRCm39) |
A48E |
probably damaging |
Het |
| Mat2a |
G |
A |
6: 72,413,227 (GRCm39) |
R168C |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,037,200 (GRCm39) |
V700A |
probably damaging |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,070,230 (GRCm39) |
E421* |
probably null |
Het |
| Or12d2 |
T |
A |
17: 37,625,165 (GRCm39) |
I37L |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,483 (GRCm39) |
I150M |
possibly damaging |
Het |
| Pecam1 |
T |
C |
11: 106,545,986 (GRCm39) |
N693D |
probably benign |
Het |
| Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,977,384 (GRCm39) |
T40A |
probably damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Reln |
T |
C |
5: 22,432,628 (GRCm39) |
Q124R |
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,013,055 (GRCm39) |
E1127V |
probably benign |
Het |
| Sertad3 |
A |
G |
7: 27,176,120 (GRCm39) |
N185D |
probably damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,719 (GRCm39) |
Y120C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
| Spart |
G |
T |
3: 55,025,157 (GRCm39) |
V251L |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,636 (GRCm39) |
E3631G |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,721,480 (GRCm39) |
T848A |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,756,154 (GRCm39) |
D12G |
possibly damaging |
Het |
| Tsen2 |
T |
A |
6: 115,524,948 (GRCm39) |
V49E |
probably damaging |
Het |
| Tspan1 |
C |
T |
4: 116,024,232 (GRCm39) |
M10I |
probably benign |
Het |
| Uncx |
A |
T |
5: 139,532,444 (GRCm39) |
T170S |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,421 (GRCm39) |
|
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,857 (GRCm39) |
I267V |
probably benign |
Het |
| Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
|
| Other mutations in Trim28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Trim28
|
APN |
7 |
12,764,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Trim28
|
UTSW |
7 |
12,762,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Trim28
|
UTSW |
7 |
12,759,711 (GRCm39) |
splice site |
probably benign |
|
|
R1558:Trim28
|
UTSW |
7 |
12,761,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Trim28
|
UTSW |
7 |
12,764,776 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3120:Trim28
|
UTSW |
7 |
12,762,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Trim28
|
UTSW |
7 |
12,763,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4237:Trim28
|
UTSW |
7 |
12,761,838 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4379:Trim28
|
UTSW |
7 |
12,763,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5206:Trim28
|
UTSW |
7 |
12,759,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5754:Trim28
|
UTSW |
7 |
12,763,036 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6788:Trim28
|
UTSW |
7 |
12,759,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6864:Trim28
|
UTSW |
7 |
12,763,385 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7089:Trim28
|
UTSW |
7 |
12,758,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7588:Trim28
|
UTSW |
7 |
12,763,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Trim28
|
UTSW |
7 |
12,762,040 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7861:Trim28
|
UTSW |
7 |
12,762,339 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7878:Trim28
|
UTSW |
7 |
12,758,289 (GRCm39) |
start gained |
probably benign |
|
|
R8814:Trim28
|
UTSW |
7 |
12,762,454 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9226:Trim28
|
UTSW |
7 |
12,763,490 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9231:Trim28
|
UTSW |
7 |
12,763,490 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9232:Trim28
|
UTSW |
7 |
12,763,490 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9233:Trim28
|
UTSW |
7 |
12,763,490 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9235:Trim28
|
UTSW |
7 |
12,763,490 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9236:Trim28
|
UTSW |
7 |
12,763,490 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9518:Trim28
|
UTSW |
7 |
12,764,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0050:Trim28
|
UTSW |
7 |
12,763,398 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATCCTAGTGCTCTCTGC -3'
(R):5'- GGCATTGAGATCCCACTGAAAC -3'
Sequencing Primer
(F):5'- TGCTTTCCCTAACGAGACTG -3'
(R):5'- TGAAACTTCATCTCACCATGAGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation