Incidental Mutation 'R0992:Trim15'
ID |
97809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim15
|
Ensembl Gene |
ENSMUSG00000050747 |
Gene Name |
tripartite motif-containing 15 |
Synonyms |
1810012B10Rik |
MMRRC Submission |
039112-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R0992 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
37171583-37178102 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37175903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 215
(V215M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025329]
[ENSMUST00000060524]
[ENSMUST00000174195]
|
AlphaFold |
G3UY57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025329
AA Change: V215M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025329 Gene: ENSMUSG00000050747 AA Change: V215M
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 |
unknown
Transcript: ENSMUST00000173639
AA Change: V96M
|
SMART Domains |
Protein: ENSMUSP00000133638 Gene: ENSMUSG00000050747 AA Change: V96M
Domain | Start | End | E-Value | Type |
SCOP:d1dkza_
|
15 |
105 |
1e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174195
AA Change: V215M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133953 Gene: ENSMUSG00000050747 AA Change: V215M
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
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, 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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,102,510 (GRCm39) |
T905A |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,728,086 (GRCm39) |
R100G |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,991,553 (GRCm39) |
R1400* |
probably null |
Het |
Clstn2 |
A |
G |
9: 97,327,765 (GRCm39) |
S948P |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,300,491 (GRCm39) |
V1029M |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disc1 |
T |
C |
8: 125,814,781 (GRCm39) |
I215T |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dst |
A |
G |
1: 34,238,617 (GRCm39) |
N3773S |
probably damaging |
Het |
Gdap1 |
A |
G |
1: 17,217,329 (GRCm39) |
Y96C |
probably damaging |
Het |
Glipr1l1 |
A |
G |
10: 111,898,230 (GRCm39) |
R112G |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,795,238 (GRCm39) |
S13P |
probably benign |
Het |
Noxred1 |
T |
C |
12: 87,271,000 (GRCm39) |
N207S |
probably benign |
Het |
Pom121l2 |
A |
T |
13: 22,166,929 (GRCm39) |
Q400L |
probably benign |
Het |
Sla2 |
T |
C |
2: 156,716,392 (GRCm39) |
E243G |
probably damaging |
Het |
Srpk2 |
A |
G |
5: 23,750,541 (GRCm39) |
I54T |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Uchl3 |
T |
C |
14: 101,905,969 (GRCm39) |
I144T |
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 |
|
R1775:Trim15
|
UTSW |
17 |
37,176,061 (GRCm39) |
missense |
probably benign |
0.15 |
R1957:Trim15
|
UTSW |
17 |
37,173,215 (GRCm39) |
unclassified |
probably benign |
|
R3625:Trim15
|
UTSW |
17 |
37,177,768 (GRCm39) |
missense |
possibly damaging |
0.74 |
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'- TCAGCACCACACATGGGTTATTCC -3'
(R):5'- TCCTCACAGATGCAGGTTGAAAGC -3'
Sequencing Primer
(F):5'- CCAAACTCAAGATGGTCTGATG -3'
(R):5'- CAGGTTGAAAGCAAAAAGCATC -3'
|
Posted On |
2014-01-05 |