Incidental Mutation 'IGL02243:Trim39'
| ID |
286062 |
| 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 # |
IGL02243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36571276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 494
(D494G)
|
| 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: D486G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: D486G
| 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: D486G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: D486G
| 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: D494G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: D494G
| 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: ENSMUST00000174197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173486
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
| Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
| Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
| Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
| M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
| Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
| Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
| Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
| Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
| Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation