Incidental Mutation 'IGL01462:Trim39'
| ID |
88035 |
| 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 # |
IGL01462
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 36574617 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
A |
6: 92,871,247 (GRCm39) |
A30S |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,089,387 (GRCm39) |
T392A |
probably benign |
Het |
| Atp8b5 |
C |
A |
4: 43,368,010 (GRCm39) |
Q878K |
possibly damaging |
Het |
| Ccdc85a |
G |
T |
11: 28,526,506 (GRCm39) |
H339Q |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cog4 |
C |
T |
8: 111,592,717 (GRCm39) |
T430M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,274 (GRCm39) |
Y28H |
unknown |
Het |
| Cth |
A |
T |
3: 157,610,804 (GRCm39) |
Y343N |
probably damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,854 (GRCm39) |
L84* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,219,092 (GRCm39) |
I868N |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,681 (GRCm39) |
N133D |
possibly damaging |
Het |
| Epor |
G |
A |
9: 21,870,752 (GRCm39) |
P376L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,204,354 (GRCm39) |
V201A |
possibly damaging |
Het |
| Hdgf |
G |
A |
3: 87,821,831 (GRCm39) |
E149K |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,034,917 (GRCm39) |
|
probably null |
Het |
| Ly6g6d |
T |
C |
17: 35,293,226 (GRCm39) |
I40V |
probably benign |
Het |
| Mlh3 |
G |
A |
12: 85,313,510 (GRCm39) |
T892I |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,011 (GRCm39) |
T304I |
probably damaging |
Het |
| Mmp28 |
T |
C |
11: 83,334,602 (GRCm39) |
D384G |
possibly damaging |
Het |
| Moxd1 |
T |
C |
10: 24,120,286 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
T |
G |
10: 29,024,254 (GRCm39) |
L390R |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,477 (GRCm39) |
V76A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,774 (GRCm39) |
R165C |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,578 (GRCm39) |
M1T |
probably null |
Het |
| Or2a57 |
A |
G |
6: 43,212,559 (GRCm39) |
T6A |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,975,485 (GRCm39) |
H694L |
possibly damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,128 (GRCm39) |
L60P |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,237,175 (GRCm39) |
V4A |
probably benign |
Het |
| Rgr |
G |
T |
14: 36,766,566 (GRCm39) |
T160K |
probably damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,787 (GRCm39) |
I205V |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,898,280 (GRCm39) |
Y150C |
probably damaging |
Het |
| Srsf9 |
T |
C |
5: 115,470,187 (GRCm39) |
S122P |
probably damaging |
Het |
| Stox1 |
T |
G |
10: 62,500,461 (GRCm39) |
I700L |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,294 (GRCm39) |
D165G |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,828 (GRCm39) |
S338P |
probably benign |
Het |
| Wbp2 |
G |
A |
11: 115,972,066 (GRCm39) |
A130V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,230,902 (GRCm39) |
K96E |
probably benign |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly 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 |
|
|
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 |
2013-11-18 |
Incidental Mutation