Incidental Mutation 'R7407:Trim6'
| ID |
574790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim6
|
| Ensembl Gene |
ENSMUSG00000072244 |
| Gene Name |
tripartite motif-containing 6 |
| Synonyms |
D7Ertd684e, C430046K18Rik |
| MMRRC Submission |
045488-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.290)
|
| Stock # |
R7407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103868002-103884359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103875108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 115
(I115T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098180]
[ENSMUST00000128493]
[ENSMUST00000144455]
[ENSMUST00000153324]
[ENSMUST00000214578]
|
| AlphaFold |
Q8BGE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098180
AA Change: I115T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095782
Gene: ENSMUSG00000072244
AA Change: I115T
| 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 |
probably damaging
Transcript: ENSMUST00000128493
AA Change: I115T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118859
Gene: ENSMUSG00000072244
AA Change: I115T
| 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 benign
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 |
probably damaging
Transcript: ENSMUST00000153324
AA Change: I115T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119932
Gene: ENSMUSG00000072244
AA Change: I115T
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
8.16e-10 |
SMART |
|
BBOX
|
92 |
133 |
8.87e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214578
AA Change: I89T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,626 (GRCm39) |
N220S |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,605,674 (GRCm39) |
V186A |
probably benign |
Het |
| Actbl2 |
A |
T |
13: 111,392,752 (GRCm39) |
E362D |
probably damaging |
Het |
| Adamts17 |
C |
A |
7: 66,697,304 (GRCm39) |
Y28* |
probably null |
Het |
| Agtr1b |
T |
C |
3: 20,369,895 (GRCm39) |
D237G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,291 (GRCm39) |
D162G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,572,624 (GRCm39) |
E366G |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,452,330 (GRCm39) |
I88V |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,817 (GRCm39) |
N100S |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,112,882 (GRCm39) |
D38G |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Deaf1 |
G |
A |
7: 140,877,492 (GRCm39) |
A545V |
possibly damaging |
Het |
| Dicer1 |
G |
T |
12: 104,688,610 (GRCm39) |
Y322* |
probably null |
Het |
| Dnajb7 |
G |
T |
15: 81,291,827 (GRCm39) |
T170K |
possibly damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,074 (GRCm39) |
E137D |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,120,362 (GRCm39) |
F482L |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,067,974 (GRCm39) |
V336A |
probably damaging |
Het |
| Gpatch8 |
G |
A |
11: 102,370,656 (GRCm39) |
R961W |
unknown |
Het |
| Hcn4 |
A |
G |
9: 58,766,653 (GRCm39) |
E738G |
unknown |
Het |
| Kdelr3 |
A |
G |
15: 79,409,039 (GRCm39) |
Y76C |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,768,530 (GRCm39) |
S494G |
unknown |
Het |
| Letmd1 |
G |
T |
15: 100,367,119 (GRCm39) |
A39S |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,840,878 (GRCm39) |
R1387W |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,713,553 (GRCm39) |
Y599H |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,385,209 (GRCm39) |
I477L |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,338,969 (GRCm39) |
D1174G |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,402 (GRCm38) |
I227L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,800 (GRCm39) |
Y278* |
probably null |
Het |
| Palld |
G |
T |
8: 61,968,975 (GRCm39) |
S1283* |
probably null |
Het |
| Pcmtd2 |
T |
C |
2: 181,488,398 (GRCm39) |
V183A |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,652,880 (GRCm39) |
I269F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,568 (GRCm39) |
L4036P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,458,407 (GRCm39) |
N4151S |
possibly damaging |
Het |
| Rcor3 |
C |
T |
1: 191,785,972 (GRCm39) |
S422N |
probably benign |
Het |
| Rhag |
A |
G |
17: 41,142,225 (GRCm39) |
I223V |
possibly damaging |
Het |
| Ssbp4 |
A |
G |
8: 71,051,672 (GRCm39) |
Y231H |
probably damaging |
Het |
| Syce1l |
C |
T |
8: 114,381,770 (GRCm39) |
Q237* |
probably null |
Het |
| Tenm4 |
T |
C |
7: 96,423,194 (GRCm39) |
V663A |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,217 (GRCm39) |
Y97C |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,880,729 (GRCm39) |
I399T |
|
Het |
| Vmn1r25 |
T |
A |
6: 57,956,044 (GRCm39) |
T82S |
possibly damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,484,308 (GRCm39) |
S631P |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,235,823 (GRCm39) |
V637E |
probably damaging |
Het |
| Xpo6 |
A |
T |
7: 125,770,224 (GRCm39) |
M62K |
probably damaging |
Het |
| Ypel5 |
A |
G |
17: 73,153,374 (GRCm39) |
N26S |
possibly damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,340,775 (GRCm39) |
Q624K |
possibly damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,415 (GRCm39) |
D798G |
probably benign |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
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 |
|
|
R0026:Trim6
|
UTSW |
7 |
103,875,016 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGACCTCCTATCAGCC -3'
(R):5'- GTTCAACAAAGAAATCTGGGCTTCA -3'
Sequencing Primer
(F):5'- GACCTCCTATCAGCCTGGGAAC -3'
(R):5'- TTAATTCCAGCACTCGGGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation