Incidental Mutation 'R5206:Trim28'
| ID |
402029 |
| 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 |
042781-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12758079-12764959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12759275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 130
(I130V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005705]
|
| AlphaFold |
Q62318 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005705
AA Change: I130V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
AA Change: I130V
| 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 |
noncoding transcript
Transcript: ENSMUST00000123603
|
| 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: ENSMUST00000148354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209577
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,272 (GRCm39) |
E487G |
probably benign |
Het |
| 2610021A01Rik |
A |
T |
7: 41,276,009 (GRCm39) |
K571* |
probably null |
Het |
| A2m |
T |
C |
6: 121,651,766 (GRCm39) |
V1278A |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,806,589 (GRCm39) |
V801A |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,731 (GRCm39) |
D418E |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,982,572 (GRCm39) |
A3727V |
unknown |
Het |
| Cmah |
T |
G |
13: 24,648,267 (GRCm39) |
F501V |
probably damaging |
Het |
| Csf2rb2 |
T |
A |
15: 78,176,952 (GRCm39) |
I173L |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,491,942 (GRCm39) |
W1126R |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,000,633 (GRCm39) |
A1690E |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,598,472 (GRCm39) |
L1879P |
probably damaging |
Het |
| Eif3j2 |
A |
T |
18: 43,610,647 (GRCm39) |
D55E |
probably benign |
Het |
| Fam83f |
G |
A |
15: 80,576,255 (GRCm39) |
G302D |
possibly damaging |
Het |
| Fus |
G |
A |
7: 127,568,969 (GRCm39) |
G40D |
unknown |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
C |
6: 100,781,576 (GRCm39) |
V417A |
probably damaging |
Het |
| Hhipl1 |
G |
A |
12: 108,278,437 (GRCm39) |
R255H |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,216,477 (GRCm39) |
I838N |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,833,097 (GRCm39) |
C1579F |
probably damaging |
Het |
| Med13 |
C |
T |
11: 86,210,705 (GRCm39) |
R479H |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,309 (GRCm39) |
Y281* |
probably null |
Het |
| Or5b113 |
G |
T |
19: 13,342,429 (GRCm39) |
G146C |
possibly damaging |
Het |
| Or5k15 |
G |
T |
16: 58,710,381 (GRCm39) |
N67K |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,520,155 (GRCm39) |
M66L |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,589,967 (GRCm39) |
Y251F |
probably benign |
Het |
| Pak6 |
A |
G |
2: 118,523,784 (GRCm39) |
E313G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,224,549 (GRCm39) |
Y145N |
probably damaging |
Het |
| Pla2g2f |
T |
A |
4: 138,479,662 (GRCm39) |
D165V |
probably benign |
Het |
| Plbd1 |
C |
T |
6: 136,618,154 (GRCm39) |
V133M |
probably benign |
Het |
| Ppp1r14bl |
C |
T |
1: 23,141,183 (GRCm39) |
G44R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,675,056 (GRCm39) |
Y1352C |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,615 (GRCm39) |
R51H |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slc2a2 |
G |
A |
3: 28,762,756 (GRCm39) |
V100M |
probably damaging |
Het |
| Slc38a10 |
C |
G |
11: 119,995,888 (GRCm39) |
A1062P |
probably damaging |
Het |
| Snai1 |
T |
C |
2: 167,380,888 (GRCm39) |
I127T |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,144,395 (GRCm39) |
G692D |
probably damaging |
Het |
| Stc1 |
A |
T |
14: 69,269,048 (GRCm39) |
D72V |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,804,024 (GRCm39) |
N351S |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,382 (GRCm39) |
Y459H |
probably damaging |
Het |
| Ugt1a6b |
C |
A |
1: 88,035,170 (GRCm39) |
Y169* |
probably null |
Het |
| Vasp |
T |
C |
7: 18,992,780 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,598,868 (GRCm39) |
G184V |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,266,988 (GRCm39) |
T358I |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,247,022 (GRCm39) |
V35A |
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 |
|
R4022:Trim28
|
UTSW |
7 |
12,762,485 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- AAGTAGGCCTGCTGGTTTAAGAG -3'
(R):5'- TTACTTGCCAGTAAACACAAGC -3'
Sequencing Primer
(F):5'- CTGCTGGTTTAAGAGGGGGC -3'
(R):5'- ACTCAAATCTGTGCCGCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation