Incidental Mutation 'IGL03390:Trim39'
| ID |
421028 |
| 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 # |
IGL03390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36571463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 432
(K432E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025319]
[ENSMUST00000042717]
[ENSMUST00000077535]
[ENSMUST00000113706]
[ENSMUST00000172573]
[ENSMUST00000173369]
[ENSMUST00000173665]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025319
|
| SMART Domains |
Protein: ENSMUSP00000025319
Gene: ENSMUSG00000024446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rpr2
|
13 |
96 |
1.2e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042717
AA Change: K424E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: K424E
| 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 |
probably benign
Transcript: ENSMUST00000077535
|
| SMART Domains |
Protein: ENSMUSP00000076739
Gene: ENSMUSG00000024446
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113704
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113706
AA Change: K424E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: K424E
| 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 |
probably benign
Transcript: ENSMUST00000172573
|
| SMART Domains |
Protein: ENSMUSP00000133400
Gene: ENSMUSG00000024446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rpr2
|
1 |
48 |
4.4e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172832
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173369
AA Change: K432E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: K432E
| 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 |
noncoding transcript
Transcript: ENSMUST00000174824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173122
|
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
G |
8: 125,566,564 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,359,997 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,524,863 (GRCm39) |
L134* |
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,883,902 (GRCm39) |
D257G |
unknown |
Het |
| Cthrc1 |
T |
A |
15: 38,940,529 (GRCm39) |
I44N |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,952,288 (GRCm39) |
Y545H |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,885,069 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,661,558 (GRCm39) |
N562S |
probably benign |
Het |
| Fem1b |
G |
A |
9: 62,704,246 (GRCm39) |
A338V |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,477,820 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
A |
T |
14: 51,760,914 (GRCm39) |
H161L |
probably benign |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
G |
7: 139,105,664 (GRCm39) |
V213G |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,141,233 (GRCm39) |
T489A |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,835,241 (GRCm39) |
A211V |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,642,987 (GRCm39) |
D507G |
possibly damaging |
Het |
| Lama5 |
T |
C |
2: 179,849,011 (GRCm39) |
Y224C |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,386,857 (GRCm39) |
L2421P |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,689,894 (GRCm39) |
T205I |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,757,255 (GRCm39) |
V281A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,488,490 (GRCm39) |
C537* |
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,985,699 (GRCm39) |
V5A |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,787,192 (GRCm39) |
Y354C |
probably benign |
Het |
| Rimklb |
C |
T |
6: 122,433,280 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rnase2a |
T |
C |
14: 51,492,945 (GRCm39) |
D140G |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,787,302 (GRCm39) |
P1017S |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,205 (GRCm39) |
D209G |
probably damaging |
Het |
| Sntn |
T |
A |
14: 13,682,205 (GRCm38) |
|
probably benign |
Het |
| Tal2 |
G |
T |
4: 53,785,994 (GRCm39) |
L58F |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,329,501 (GRCm39) |
M219K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,767 (GRCm39) |
I311L |
possibly damaging |
Het |
| Wfdc17 |
A |
T |
11: 83,595,611 (GRCm39) |
|
probably benign |
Het |
| Zbtb6 |
T |
G |
2: 37,319,584 (GRCm39) |
I115L |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,402,770 (GRCm39) |
C659* |
probably null |
Het |
|
| Other mutations in Trim39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Trim39
|
APN |
17 |
36,574,855 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation