Incidental Mutation 'R0026:Trim6'
| ID |
15094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim6
|
| Ensembl Gene |
ENSMUSG00000072244 |
| Gene Name |
tripartite motif-containing 6 |
| Synonyms |
D7Ertd684e, C430046K18Rik |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.290)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103868002-103884359 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 103875016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098180]
[ENSMUST00000128493]
[ENSMUST00000144455]
[ENSMUST00000153324]
[ENSMUST00000214578]
|
| AlphaFold |
Q8BGE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097023
|
| SMART Domains |
Protein: ENSMUSP00000094787
Gene: ENSMUSG00000072244
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
8.16e-10 |
SMART |
|
PDB:2YRG|A
|
83 |
105 |
2e-8 |
PDB |
|
coiled coil region
|
107 |
194 |
N/A |
INTRINSIC |
|
PRY
|
274 |
325 |
5.31e-9 |
SMART |
|
Pfam:SPRY
|
328 |
456 |
2.8e-12 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000098180
|
| SMART Domains |
Protein: ENSMUSP00000095782
Gene: ENSMUSG00000072244
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
8.16e-10 |
SMART |
|
BBOX
|
92 |
133 |
8.87e-11 |
SMART |
|
low complexity region
|
194 |
211 |
N/A |
INTRINSIC |
|
PRY
|
300 |
351 |
5.31e-9 |
SMART |
|
Pfam:SPRY
|
354 |
482 |
9.1e-12 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000128493
|
| SMART Domains |
Protein: ENSMUSP00000118859
Gene: ENSMUSG00000072244
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
8.16e-10 |
SMART |
|
Pfam:zf-B_box
|
93 |
125 |
1.5e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144455
|
| SMART Domains |
Protein: ENSMUSP00000116233
Gene: ENSMUSG00000072244
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
8.16e-10 |
SMART |
|
Blast:BBOX
|
92 |
113 |
6e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144538
|
| Predicted Effect |
silent
Transcript: ENSMUST00000153324
|
| SMART Domains |
Protein: ENSMUSP00000119932
Gene: ENSMUSG00000072244
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
8.16e-10 |
SMART |
|
BBOX
|
92 |
133 |
8.87e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214578
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
| Validation Efficiency |
96% (75/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,101,831 (GRCm39) |
|
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,387,880 (GRCm39) |
Y37H |
probably damaging |
Het |
| Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
| Gnb3 |
A |
G |
6: 124,814,380 (GRCm39) |
V135A |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
| Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
| Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
Het |
|
| Other mutations in Trim6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00828:Trim6
|
APN |
7 |
103,879,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02493:Trim6
|
APN |
7 |
103,881,847 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02517:Trim6
|
APN |
7 |
103,881,564 (GRCm39) |
splice site |
probably benign |
|
|
R1505:Trim6
|
UTSW |
7 |
103,881,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Trim6
|
UTSW |
7 |
103,882,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Trim6
|
UTSW |
7 |
103,877,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3919:Trim6
|
UTSW |
7 |
103,882,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Trim6
|
UTSW |
7 |
103,881,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Trim6
|
UTSW |
7 |
103,881,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Trim6
|
UTSW |
7 |
103,881,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Trim6
|
UTSW |
7 |
103,881,692 (GRCm39) |
nonsense |
probably null |
|
|
R5120:Trim6
|
UTSW |
7 |
103,877,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Trim6
|
UTSW |
7 |
103,874,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Trim6
|
UTSW |
7 |
103,881,843 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7407:Trim6
|
UTSW |
7 |
103,875,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Trim6
|
UTSW |
7 |
103,882,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Trim6
|
UTSW |
7 |
103,881,068 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8444:Trim6
|
UTSW |
7 |
103,881,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Trim6
|
UTSW |
7 |
103,874,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Trim6
|
UTSW |
7 |
103,881,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8927:Trim6
|
UTSW |
7 |
103,881,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9031:Trim6
|
UTSW |
7 |
103,875,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Trim6
|
UTSW |
7 |
103,882,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-12 |
Incidental Mutation