Incidental Mutation 'R8096:Trim68'
| ID |
630197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim68
|
| Ensembl Gene |
ENSMUSG00000073968 |
| Gene Name |
tripartite motif-containing 68 |
| Synonyms |
SS-56, Rnf137, F730114J12Rik |
| MMRRC Submission |
067528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8096 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102326789-102336534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102327649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 435
(S435P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082175]
[ENSMUST00000210855]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082175
AA Change: S435P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080813
Gene: ENSMUSG00000073968
AA Change: S435P
| 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 |
probably benign
Transcript: ENSMUST00000210855
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
98% (44/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
A |
14: 54,882,726 (GRCm39) |
A999V |
possibly damaging |
Het |
| Actn4 |
A |
G |
7: 28,594,008 (GRCm39) |
I833T |
possibly damaging |
Het |
| Actn4 |
C |
A |
7: 28,601,338 (GRCm39) |
R470L |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,127,700 (GRCm39) |
I580N |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 68,021,982 (GRCm39) |
T203S |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,436,890 (GRCm39) |
Y824C |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,825,657 (GRCm39) |
V506A |
possibly damaging |
Het |
| Cdk17 |
T |
G |
10: 93,052,229 (GRCm39) |
M103R |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,446 (GRCm39) |
E449V |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,160 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,234,256 (GRCm39) |
T7A |
possibly damaging |
Het |
| Ggcx |
G |
A |
6: 72,406,976 (GRCm39) |
R704Q |
probably benign |
Het |
| Gpr87 |
A |
T |
3: 59,087,229 (GRCm39) |
L92Q |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,803,355 (GRCm39) |
G279E |
|
Het |
| Igsf10 |
G |
T |
3: 59,236,380 (GRCm39) |
T1267N |
probably damaging |
Het |
| Mrc2 |
G |
T |
11: 105,234,333 (GRCm39) |
R951L |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,575,764 (GRCm39) |
S1755T |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,292 (GRCm39) |
V751A |
unknown |
Het |
| Or10a3 |
A |
T |
7: 108,480,248 (GRCm39) |
C188* |
probably null |
Het |
| Or1l4 |
T |
A |
2: 37,092,078 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,056 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,975 (GRCm39) |
Y531C |
|
Het |
| Pigr |
A |
G |
1: 130,774,247 (GRCm39) |
E409G |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rsph14 |
T |
A |
10: 74,795,493 (GRCm39) |
I231F |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,708,626 (GRCm39) |
S4812P |
unknown |
Het |
| Scgb2b24 |
T |
A |
7: 33,438,646 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,594,366 (GRCm39) |
H1738Q |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,934,558 (GRCm39) |
D678E |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,417 (GRCm39) |
F370S |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,255,279 (GRCm39) |
D823E |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,898,094 (GRCm39) |
I555N |
unknown |
Het |
| Stx19 |
A |
C |
16: 62,642,524 (GRCm39) |
E113D |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,663 (GRCm39) |
Y91N |
probably damaging |
Het |
| Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,715,927 (GRCm39) |
M1180I |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,950,411 (GRCm39) |
A732T |
probably damaging |
Het |
| Tpra1 |
C |
T |
6: 88,888,699 (GRCm39) |
Q294* |
probably null |
Het |
| Trim24 |
G |
T |
6: 37,935,592 (GRCm39) |
S895I |
probably benign |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,226,560 (GRCm39) |
C335R |
probably damaging |
Het |
| Zfp958 |
G |
T |
8: 4,663,273 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trim68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Trim68
|
APN |
7 |
102,328,348 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGCATCCTCCAACAATG -3'
(R):5'- ACAGATCTGAATGGGGTCTGGG -3'
Sequencing Primer
(F):5'- GATCTATTAAGTTAGGATGGCTCTCC -3'
(R):5'- AGTGTGTGTGGAAAATGTTGACC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation