Incidental Mutation 'R7588:Trim28'
| ID |
587255 |
| 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 |
045636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12758079-12764959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 12763347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 496
(D496A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005705]
[ENSMUST00000005711]
[ENSMUST00000210587]
[ENSMUST00000211344]
[ENSMUST00000211369]
[ENSMUST00000211626]
|
| AlphaFold |
Q62318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005705
AA Change: D496A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
AA Change: D496A
| 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 |
probably benign
Transcript: ENSMUST00000210587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211626
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
A |
11: 83,215,348 (GRCm39) |
D97E |
probably benign |
Het |
| Apbb1 |
G |
T |
7: 105,223,173 (GRCm39) |
P146Q |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,274,590 (GRCm39) |
S277T |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,124,430 (GRCm39) |
K291E |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,383,458 (GRCm39) |
D415G |
possibly damaging |
Het |
| Cep152 |
T |
A |
2: 125,411,546 (GRCm39) |
E1256D |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,864,039 (GRCm39) |
N2643S |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,788,526 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,071,876 (GRCm39) |
I940N |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,080 (GRCm39) |
T312A |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,000,607 (GRCm39) |
|
probably null |
Het |
| Fam83g |
A |
T |
11: 61,575,522 (GRCm39) |
I55F |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,084,017 (GRCm39) |
F780L |
possibly damaging |
Het |
| Fhod3 |
G |
T |
18: 25,223,305 (GRCm39) |
A884S |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,516,711 (GRCm39) |
S596G |
probably benign |
Het |
| Gns |
T |
C |
10: 121,226,563 (GRCm39) |
V404A |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,991,173 (GRCm39) |
N624D |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,532,885 (GRCm39) |
I3099M |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,104,785 (GRCm39) |
S1080R |
possibly damaging |
Het |
| Kcnk15 |
T |
C |
2: 163,700,226 (GRCm39) |
V155A |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,724,838 (GRCm39) |
|
probably null |
Het |
| Mapk8ip1 |
T |
A |
2: 92,216,984 (GRCm39) |
D446V |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,046,398 (GRCm39) |
E1466G |
unknown |
Het |
| Mug1 |
A |
G |
6: 121,852,476 (GRCm39) |
R855G |
probably damaging |
Het |
| Naalad2 |
C |
A |
9: 18,262,775 (GRCm39) |
V374F |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nlrp5 |
A |
G |
7: 23,107,576 (GRCm39) |
E83G |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,401,536 (GRCm39) |
F901S |
possibly damaging |
Het |
| Nps |
T |
C |
7: 134,870,508 (GRCm39) |
V10A |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,806,900 (GRCm39) |
V1109E |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,246 (GRCm39) |
D267G |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,698,673 (GRCm39) |
Y15H |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Ppm1b |
T |
C |
17: 85,320,997 (GRCm39) |
S380P |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,381,134 (GRCm39) |
N470D |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,356,763 (GRCm39) |
N29D |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,090,566 (GRCm39) |
T3431A |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,429,850 (GRCm39) |
V852A |
probably damaging |
Het |
| Rttn |
T |
G |
18: 89,082,353 (GRCm39) |
D1426E |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Styxl1 |
G |
A |
5: 135,799,130 (GRCm39) |
P28L |
probably damaging |
Het |
| Tcl1b4 |
A |
G |
12: 105,168,641 (GRCm39) |
|
probably benign |
Het |
| Trav17 |
A |
G |
14: 54,044,302 (GRCm39) |
D24G |
probably benign |
Het |
| Trim29 |
T |
C |
9: 43,246,425 (GRCm39) |
Y574H |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,738,604 (GRCm39) |
F750L |
probably damaging |
Het |
| Ubr3 |
C |
A |
2: 69,801,513 (GRCm39) |
T1007K |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,128,405 (GRCm39) |
Y7C |
possibly damaging |
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 |
|
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 |
|
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'- CCGCATGTATCAGGCATGAAG -3'
(R):5'- GGTTTCACTCTCTAAGGACCATC -3'
Sequencing Primer
(F):5'- AGCGGTAAGTGTGGCAGCC -3'
(R):5'- ACATCTTACCTTGACAATGGCCATG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation