Incidental Mutation 'R3625:Trim15'
| ID |
269394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim15
|
| Ensembl Gene |
ENSMUSG00000050747 |
| Gene Name |
tripartite motif-containing 15 |
| Synonyms |
1810012B10Rik |
| MMRRC Submission |
040679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R3625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37171583-37178102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37177768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025329]
[ENSMUST00000060524]
[ENSMUST00000174195]
|
| AlphaFold |
G3UY57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025329
AA Change: T76A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025329
Gene: ENSMUSG00000050747
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
53 |
2e-4 |
SMART |
|
BBOX
|
73 |
114 |
2.41e-12 |
SMART |
|
coiled coil region
|
145 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060524
|
| SMART Domains |
Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
60 |
1.2e-7 |
SMART |
|
BBOX
|
94 |
135 |
5.38e-10 |
SMART |
|
coiled coil region
|
152 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
207 |
N/A |
INTRINSIC |
|
PRY
|
309 |
361 |
1.04e-25 |
SMART |
|
SPRY
|
362 |
485 |
1.51e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173639
|
| SMART Domains |
Protein: ENSMUSP00000133638
Gene: ENSMUSG00000050747
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dkza_
|
15 |
105 |
1e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174195
AA Change: T76A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133953
Gene: ENSMUSG00000050747
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
53 |
2e-4 |
SMART |
|
BBOX
|
73 |
114 |
2.41e-12 |
SMART |
|
coiled coil region
|
145 |
229 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3397 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| 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, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,425,591 (GRCm39) |
V80A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg3 |
T |
A |
16: 44,995,624 (GRCm39) |
I119N |
probably benign |
Het |
| Cdh12 |
G |
C |
15: 21,358,842 (GRCm39) |
V89L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,270,310 (GRCm39) |
H396N |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dab2ip |
C |
A |
2: 35,533,903 (GRCm39) |
S43* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,300,927 (GRCm39) |
S2394P |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,082,067 (GRCm39) |
N546H |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,814 (GRCm39) |
N1449S |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,979,175 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
A |
18: 42,131,883 (GRCm39) |
D62V |
probably damaging |
Het |
| H2bc8 |
T |
C |
13: 23,755,625 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
T |
4: 88,609,016 (GRCm39) |
I150N |
probably damaging |
Het |
| Igsf8 |
T |
C |
1: 172,145,336 (GRCm39) |
V284A |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,288,419 (GRCm39) |
E388G |
possibly damaging |
Het |
| Map3k8 |
G |
A |
18: 4,333,965 (GRCm39) |
R376C |
probably damaging |
Het |
| Map6 |
A |
T |
7: 98,918,402 (GRCm39) |
T189S |
possibly damaging |
Het |
| Mms22l |
T |
A |
4: 24,505,357 (GRCm39) |
S206T |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,578,337 (GRCm39) |
L676S |
probably damaging |
Het |
| Nkx6-2 |
A |
G |
7: 139,162,106 (GRCm39) |
F117S |
possibly damaging |
Het |
| Ociad2 |
C |
T |
5: 73,481,173 (GRCm39) |
C72Y |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,346 (GRCm39) |
C184* |
probably null |
Het |
| Or52e15 |
A |
T |
7: 104,645,191 (GRCm39) |
F307I |
probably benign |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,193 (GRCm39) |
V21L |
probably damaging |
Het |
| Pogk |
G |
A |
1: 166,231,081 (GRCm39) |
T82I |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,731 (GRCm39) |
S296G |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,922,548 (GRCm39) |
E283G |
probably null |
Het |
| Prkd3 |
C |
T |
17: 79,292,733 (GRCm39) |
R113H |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,240,961 (GRCm39) |
|
probably null |
Het |
| Rec8 |
T |
C |
14: 55,859,954 (GRCm39) |
I234T |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,432 (GRCm39) |
H394L |
probably benign |
Het |
| Thy1 |
A |
G |
9: 43,958,028 (GRCm39) |
E52G |
probably damaging |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,543 (GRCm39) |
I4F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,599,145 (GRCm39) |
I19288T |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,920 (GRCm39) |
T172I |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,893,105 (GRCm39) |
L678Q |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,668 (GRCm39) |
H74R |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,056,273 (GRCm39) |
I100V |
probably benign |
Het |
| Zfp36 |
C |
A |
7: 28,077,681 (GRCm39) |
A76S |
probably benign |
Het |
|
| Other mutations in Trim15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Trim15
|
APN |
17 |
37,175,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02135:Trim15
|
APN |
17 |
37,177,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03024:Trim15
|
APN |
17 |
37,177,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Trim15
|
UTSW |
17 |
37,177,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:Trim15
|
UTSW |
17 |
37,177,247 (GRCm39) |
missense |
probably benign |
|
|
R0992:Trim15
|
UTSW |
17 |
37,175,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1775:Trim15
|
UTSW |
17 |
37,176,061 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1957:Trim15
|
UTSW |
17 |
37,173,215 (GRCm39) |
unclassified |
probably benign |
|
|
R4520:Trim15
|
UTSW |
17 |
37,177,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4845:Trim15
|
UTSW |
17 |
37,177,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5644:Trim15
|
UTSW |
17 |
37,177,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5838:Trim15
|
UTSW |
17 |
37,173,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Trim15
|
UTSW |
17 |
37,173,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6758:Trim15
|
UTSW |
17 |
37,173,233 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7094:Trim15
|
UTSW |
17 |
37,173,788 (GRCm39) |
missense |
probably benign |
|
|
R7849:Trim15
|
UTSW |
17 |
37,177,764 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9360:Trim15
|
UTSW |
17 |
37,177,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAAGGTGTATGTGCCCGC -3'
(R):5'- AAGTAGCCTGTCCTGTCTGC -3'
Sequencing Primer
(F):5'- AGGTCACCATCCTGCCC -3'
(R):5'- GTCCTGTCTGCACCCGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation