Incidental Mutation 'R9518:Trim28'
ID |
718710 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9518 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12758079-12764959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12764445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 753
(P753S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005705]
[ENSMUST00000005711]
[ENSMUST00000005714]
[ENSMUST00000125964]
[ENSMUST00000165394]
[ENSMUST00000210587]
[ENSMUST00000211344]
[ENSMUST00000211369]
[ENSMUST00000211626]
|
AlphaFold |
Q62318 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005705
AA Change: P753S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000005705 Gene: ENSMUSG00000005566 AA Change: P753S
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: ENSMUST00000005714
|
SMART Domains |
Protein: ENSMUSP00000005714 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
UBCc
|
32 |
173 |
8.83e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125964
|
SMART Domains |
Protein: ENSMUSP00000122638 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
UBCc
|
20 |
161 |
3.67e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165394
|
SMART Domains |
Protein: ENSMUSP00000132604 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
UBCc
|
2 |
76 |
4.51e-2 |
SMART |
|
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
Abcf2 |
T |
C |
5: 24,771,560 (GRCm39) |
T556A |
possibly damaging |
Het |
B230104I21Rik |
G |
T |
4: 154,434,004 (GRCm39) |
E63* |
probably null |
Het |
Brd10 |
A |
T |
19: 29,731,541 (GRCm39) |
H490Q |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,286,795 (GRCm39) |
K8E |
possibly damaging |
Het |
Cacna1i |
G |
A |
15: 80,271,978 (GRCm39) |
G1582D |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,465,572 (GRCm39) |
D1428V |
probably damaging |
Het |
Ccdc178 |
G |
A |
18: 22,278,516 (GRCm39) |
T69I |
possibly damaging |
Het |
Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,259,662 (GRCm39) |
V1335L |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,015,492 (GRCm39) |
N4S |
probably benign |
Het |
Dlx6 |
C |
A |
6: 6,863,406 (GRCm39) |
D9E |
probably damaging |
Het |
Dnah12 |
A |
C |
14: 26,495,713 (GRCm39) |
D198A |
probably damaging |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dpp8 |
T |
C |
9: 64,981,866 (GRCm39) |
M716T |
possibly damaging |
Het |
Dvl3 |
T |
A |
16: 20,335,961 (GRCm39) |
I6N |
possibly damaging |
Het |
Egflam |
A |
G |
15: 7,319,263 (GRCm39) |
|
probably null |
Het |
Eprs1 |
A |
T |
1: 185,111,763 (GRCm39) |
M258L |
probably benign |
Het |
Etnk1 |
A |
T |
6: 143,149,144 (GRCm39) |
M352L |
probably benign |
Het |
Fam124a |
A |
C |
14: 62,824,947 (GRCm39) |
D147A |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,056,647 (GRCm39) |
D468G |
possibly damaging |
Het |
Grm8 |
T |
A |
6: 27,429,469 (GRCm39) |
Q475L |
probably benign |
Het |
Kel |
T |
C |
6: 41,679,334 (GRCm39) |
E143G |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,840,676 (GRCm39) |
Y1147H |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,519,827 (GRCm39) |
K1729E |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,693,496 (GRCm39) |
R433H |
probably benign |
Het |
Mettl14 |
T |
C |
3: 123,167,687 (GRCm39) |
I224V |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,869,299 (GRCm39) |
N614S |
probably benign |
Het |
Mlh3 |
C |
T |
12: 85,313,004 (GRCm39) |
V1061I |
probably benign |
Het |
Mtcl3 |
T |
A |
10: 29,022,748 (GRCm39) |
C32S |
probably benign |
Het |
Myo1h |
T |
C |
5: 114,497,588 (GRCm39) |
V27A |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,358,367 (GRCm39) |
H956Q |
probably benign |
Het |
Or11h7 |
A |
T |
14: 50,891,101 (GRCm39) |
M136L |
probably damaging |
Het |
Or13p3 |
A |
G |
4: 118,567,120 (GRCm39) |
N172S |
probably damaging |
Het |
Pcdh7 |
A |
T |
5: 58,070,513 (GRCm39) |
T1064S |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,280 (GRCm39) |
E314G |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pgr |
A |
T |
9: 8,922,645 (GRCm39) |
D605V |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,860,579 (GRCm39) |
S904G |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,394,486 (GRCm39) |
I1807T |
possibly damaging |
Het |
Serpinb3c |
T |
A |
1: 107,200,468 (GRCm39) |
Q225L |
probably damaging |
Het |
Strn3 |
A |
C |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
Tent2 |
A |
G |
13: 93,320,612 (GRCm39) |
I147T |
probably benign |
Het |
Tgm2 |
C |
T |
2: 157,985,049 (GRCm39) |
R19H |
probably benign |
Het |
Themis |
T |
A |
10: 28,544,748 (GRCm39) |
|
probably null |
Het |
Vac14 |
C |
T |
8: 111,442,070 (GRCm39) |
Q683* |
probably null |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp541 |
T |
C |
7: 15,813,036 (GRCm39) |
I563T |
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 |
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 |
X0050:Trim28
|
UTSW |
7 |
12,763,398 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGCCATGAACCATGCCG -3'
(R):5'- CGATGATGGACTGAACATCTGC -3'
Sequencing Primer
(F):5'- ATGAACCATGCCGTCCCTTG -3'
(R):5'- GATGGACTGAACATCTGCCTTGTC -3'
|
Posted On |
2022-07-18 |