Incidental Mutation 'IGL01458:Trim39'
ID |
84900 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim39
|
Ensembl Gene |
ENSMUSG00000045409 |
Gene Name |
tripartite motif-containing 39 |
Synonyms |
1100001D15Rik, RING-B box-coiled-coil-B30.2, E130103K13Rik, Rnf23, tfp, RBCC-B30.2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01458
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 36574855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042717]
[ENSMUST00000113706]
[ENSMUST00000173369]
[ENSMUST00000173665]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042717
|
SMART Domains |
Protein: ENSMUSP00000039790 Gene: ENSMUSG00000045409
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
RING
|
29 |
69 |
1.9e-10 |
SMART |
BBOX
|
102 |
143 |
3.21e-8 |
SMART |
coiled coil region
|
184 |
240 |
N/A |
INTRINSIC |
PRY
|
306 |
359 |
2.3e-27 |
SMART |
SPRY
|
360 |
485 |
1.95e-31 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113704
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113706
|
SMART Domains |
Protein: ENSMUSP00000109336 Gene: ENSMUSG00000045409
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
RING
|
29 |
69 |
1.9e-10 |
SMART |
BBOX
|
102 |
143 |
3.21e-8 |
SMART |
coiled coil region
|
184 |
240 |
N/A |
INTRINSIC |
PRY
|
306 |
359 |
2.3e-27 |
SMART |
SPRY
|
360 |
485 |
1.95e-31 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172832
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173369
|
SMART Domains |
Protein: ENSMUSP00000133298 Gene: ENSMUSG00000045409
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
RING
|
29 |
69 |
1.9e-10 |
SMART |
BBOX
|
102 |
143 |
3.21e-8 |
SMART |
coiled coil region
|
184 |
240 |
N/A |
INTRINSIC |
PRY
|
314 |
367 |
1.23e-27 |
SMART |
SPRY
|
368 |
493 |
1.95e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173665
|
SMART Domains |
Protein: ENSMUSP00000133529 Gene: ENSMUSG00000045409
Domain | Start | End | E-Value | Type |
BBOX
|
1 |
40 |
5.81e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174197
|
Coding Region Coverage |
|
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 function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably damaging |
Het |
|
Other mutations in Trim39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Trim39
|
APN |
17 |
36,574,617 (GRCm39) |
splice site |
probably benign |
|
IGL02243:Trim39
|
APN |
17 |
36,571,276 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03390:Trim39
|
APN |
17 |
36,571,463 (GRCm39) |
missense |
probably damaging |
0.99 |
barba
|
UTSW |
17 |
36,579,746 (GRCm39) |
missense |
probably damaging |
1.00 |
rossa
|
UTSW |
17 |
36,571,807 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Trim39
|
UTSW |
17 |
36,579,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0458:Trim39
|
UTSW |
17 |
36,572,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0569:Trim39
|
UTSW |
17 |
36,574,623 (GRCm39) |
missense |
probably benign |
0.36 |
R1565:Trim39
|
UTSW |
17 |
36,579,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Trim39
|
UTSW |
17 |
36,574,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Trim39
|
UTSW |
17 |
36,579,645 (GRCm39) |
missense |
probably benign |
0.01 |
R2009:Trim39
|
UTSW |
17 |
36,574,646 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2568:Trim39
|
UTSW |
17 |
36,580,056 (GRCm39) |
unclassified |
probably benign |
|
R5206:Trim39
|
UTSW |
17 |
36,571,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R5443:Trim39
|
UTSW |
17 |
36,571,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R6481:Trim39
|
UTSW |
17 |
36,579,554 (GRCm39) |
missense |
probably benign |
0.03 |
R7132:Trim39
|
UTSW |
17 |
36,571,547 (GRCm39) |
missense |
probably benign |
0.25 |
R7563:Trim39
|
UTSW |
17 |
36,571,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Trim39
|
UTSW |
17 |
36,571,396 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8433:Trim39
|
UTSW |
17 |
36,571,597 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9200:Trim39
|
UTSW |
17 |
36,579,667 (GRCm39) |
missense |
probably benign |
0.04 |
R9468:Trim39
|
UTSW |
17 |
36,571,492 (GRCm39) |
missense |
probably benign |
0.10 |
|
Posted On |
2013-11-11 |