Incidental Mutation 'R0113:Trim28'
| ID |
20579 |
| 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 |
038399-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0113 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
12758079-12764959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12762628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 381
(V381E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005705]
[ENSMUST00000005711]
[ENSMUST00000210587]
[ENSMUST00000211626]
[ENSMUST00000211344]
[ENSMUST00000211369]
|
| AlphaFold |
Q62318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005705
AA Change: V381E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
AA Change: V381E
| 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: ENSMUST00000209487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149061
|
| Meta Mutation Damage Score |
0.1790 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 87.5%
|
| Validation Efficiency |
99% (70/71) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
A |
G |
8: 10,976,126 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,242,114 (GRCm39) |
I1326F |
possibly damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Aspscr1 |
C |
G |
11: 120,579,751 (GRCm39) |
Q97E |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,984,330 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,050,554 (GRCm39) |
|
probably null |
Het |
| Brme1 |
C |
T |
8: 84,893,871 (GRCm39) |
T311I |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,960,214 (GRCm39) |
Y279F |
probably damaging |
Het |
| Cav1 |
A |
T |
6: 17,308,048 (GRCm39) |
S67C |
possibly damaging |
Het |
| Ceacam23 |
G |
A |
7: 17,642,873 (GRCm39) |
|
noncoding transcript |
Het |
| Celf2 |
A |
C |
2: 6,629,525 (GRCm39) |
H113Q |
probably damaging |
Het |
| Cep170 |
A |
C |
1: 176,586,021 (GRCm39) |
N590K |
probably damaging |
Het |
| Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
| Chrna1 |
C |
A |
2: 73,397,180 (GRCm39) |
D370Y |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,034,849 (GRCm39) |
G2441C |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,495 (GRCm39) |
D984N |
possibly damaging |
Het |
| Dhrs1 |
T |
C |
14: 55,977,396 (GRCm39) |
T241A |
probably benign |
Het |
| Edar |
A |
C |
10: 58,465,271 (GRCm39) |
C31G |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,514,682 (GRCm39) |
S24P |
possibly damaging |
Het |
| Fam149a |
T |
C |
8: 45,794,061 (GRCm39) |
E669G |
probably damaging |
Het |
| Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
| G3bp1 |
T |
A |
11: 55,386,252 (GRCm39) |
V237E |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,888,889 (GRCm39) |
E163G |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,932 (GRCm39) |
D192G |
possibly damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,750,968 (GRCm39) |
T810A |
|
Het |
| Kalrn |
A |
G |
16: 33,870,306 (GRCm39) |
|
probably benign |
Het |
| Kcnk6 |
T |
C |
7: 28,931,634 (GRCm39) |
D92G |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mfsd6 |
A |
T |
1: 52,748,348 (GRCm39) |
N172K |
probably damaging |
Het |
| Mtcl1 |
G |
T |
17: 66,661,237 (GRCm39) |
Q1225K |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,185,701 (GRCm39) |
T948M |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,419 (GRCm39) |
K104E |
probably damaging |
Het |
| Nup58 |
G |
A |
14: 60,488,740 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,965,241 (GRCm39) |
K1608N |
probably damaging |
Het |
| Or10n1 |
T |
A |
9: 39,525,298 (GRCm39) |
I145K |
probably benign |
Het |
| Or1j21 |
G |
A |
2: 36,684,006 (GRCm39) |
G253R |
probably damaging |
Het |
| Or1j21 |
G |
T |
2: 36,684,007 (GRCm39) |
G253V |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,688,968 (GRCm39) |
D186G |
probably damaging |
Het |
| Poli |
C |
T |
18: 70,661,829 (GRCm39) |
C57Y |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,345,927 (GRCm39) |
Y256C |
probably benign |
Het |
| Satb1 |
C |
A |
17: 52,089,726 (GRCm39) |
E374* |
probably null |
Het |
| Scn4a |
C |
T |
11: 106,236,262 (GRCm39) |
E333K |
probably benign |
Het |
| Sec14l2 |
C |
T |
11: 4,053,661 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
T |
C |
14: 103,923,261 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,977,352 (GRCm39) |
S1266P |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,080,496 (GRCm39) |
E4810G |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,448,841 (GRCm39) |
I618T |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,657 (GRCm39) |
N821K |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,636,115 (GRCm39) |
S43G |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,338,852 (GRCm39) |
E39G |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,665 (GRCm39) |
V1124A |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,872,025 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,631 (GRCm39) |
S105C |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,501,412 (GRCm39) |
T23A |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,978,148 (GRCm39) |
T755M |
probably damaging |
Het |
| Zfp619 |
T |
A |
7: 39,187,183 (GRCm39) |
M1071K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,066 (GRCm39) |
C188S |
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 |
|
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 |
|
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'- AGGAACACATTTTGCGTTTTGCCTC -3'
(R):5'- ACTGCCAGAACCTTGCTTGCTTAG -3'
Sequencing Primer
(F):5'- GTGATAACAATACAGCTCTCTTGCTC -3'
(R):5'- GCCACAATCTTGCCTGAATG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation