Incidental Mutation 'IGL01133:Trim68'
| ID |
51623 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim68
|
| Ensembl Gene |
ENSMUSG00000073968 |
| Gene Name |
tripartite motif-containing 68 |
| Synonyms |
SS-56, Rnf137, F730114J12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102326789-102336534 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 102328348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082175]
[ENSMUST00000210855]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082175
|
| SMART Domains |
Protein: ENSMUSP00000080813
Gene: ENSMUSG00000073968
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
60 |
1.61e-8 |
SMART |
|
BBOX
|
93 |
134 |
9.89e-9 |
SMART |
|
coiled coil region
|
187 |
226 |
N/A |
INTRINSIC |
|
PRY
|
302 |
354 |
1.91e-24 |
SMART |
|
SPRY
|
355 |
482 |
3.03e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210406
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210855
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif-containing protein family, whose members are characterized by a "really interesting new gene" (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,468,220 (GRCm39) |
T134A |
possibly damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cartpt |
T |
G |
13: 100,036,548 (GRCm39) |
I67L |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ccer1 |
T |
C |
10: 97,530,401 (GRCm39) |
F355L |
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,751,310 (GRCm39) |
E320G |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap299 |
T |
C |
5: 98,646,240 (GRCm39) |
|
probably null |
Het |
| Cfap36 |
A |
C |
11: 29,184,414 (GRCm39) |
V114G |
probably damaging |
Het |
| Cyp2b9 |
G |
A |
7: 25,909,660 (GRCm39) |
G476D |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,615,410 (GRCm39) |
Y411C |
probably damaging |
Het |
| Gm27029 |
G |
T |
11: 101,302,786 (GRCm39) |
F236L |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,484 (GRCm39) |
T501A |
probably benign |
Het |
| Heg1 |
C |
T |
16: 33,547,657 (GRCm39) |
H815Y |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,756,628 (GRCm39) |
D298E |
probably damaging |
Het |
| Mecr |
T |
A |
4: 131,570,907 (GRCm39) |
S32T |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,048,812 (GRCm39) |
Y661* |
probably null |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Pla2g12b |
G |
T |
10: 59,252,239 (GRCm39) |
A37S |
probably benign |
Het |
| Plekha7 |
G |
T |
7: 115,744,476 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,689,133 (GRCm39) |
I1989V |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,689,144 (GRCm39) |
H1938R |
probably damaging |
Het |
| Sanbr |
A |
T |
11: 23,545,434 (GRCm39) |
D486E |
probably damaging |
Het |
| Sec31b |
A |
G |
19: 44,515,480 (GRCm39) |
F309S |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,087,758 (GRCm39) |
I227T |
probably benign |
Het |
| Slc1a3 |
A |
G |
15: 8,675,171 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,477 (GRCm39) |
Y127C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,217,212 (GRCm39) |
K449R |
unknown |
Het |
| Thoc2l |
A |
G |
5: 104,665,528 (GRCm39) |
T17A |
probably benign |
Het |
| Tmem130 |
A |
G |
5: 144,689,255 (GRCm39) |
S129P |
probably damaging |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,206,034 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
A |
G |
7: 85,797,240 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
T |
17: 27,193,985 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,687,233 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Trim68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02703:Trim68
|
APN |
7 |
102,333,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02835:Trim68
|
UTSW |
7 |
102,327,780 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1765:Trim68
|
UTSW |
7 |
102,329,597 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1780:Trim68
|
UTSW |
7 |
102,333,280 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4107:Trim68
|
UTSW |
7 |
102,327,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4451:Trim68
|
UTSW |
7 |
102,333,680 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R5385:Trim68
|
UTSW |
7 |
102,327,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Trim68
|
UTSW |
7 |
102,333,560 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5980:Trim68
|
UTSW |
7 |
102,328,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Trim68
|
UTSW |
7 |
102,327,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6912:Trim68
|
UTSW |
7 |
102,333,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Trim68
|
UTSW |
7 |
102,327,569 (GRCm39) |
nonsense |
probably null |
|
|
R7789:Trim68
|
UTSW |
7 |
102,333,676 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7892:Trim68
|
UTSW |
7 |
102,328,004 (GRCm39) |
missense |
unknown |
|
|
R8096:Trim68
|
UTSW |
7 |
102,327,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Trim68
|
UTSW |
7 |
102,327,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8986:Trim68
|
UTSW |
7 |
102,327,808 (GRCm39) |
nonsense |
probably null |
|
|
R9026:Trim68
|
UTSW |
7 |
102,329,447 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0067:Trim68
|
UTSW |
7 |
102,333,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Trim68
|
UTSW |
7 |
102,328,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation