Incidental Mutation 'IGL02411:Trim13'
| ID |
292283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim13
|
| Ensembl Gene |
ENSMUSG00000035235 |
| Gene Name |
tripartite motif-containing 13 |
| Synonyms |
RNF77, Rfp2, LEU5, 3110001L12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61835696-61843395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61842598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 205
(E205G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039562]
[ENSMUST00000051184]
[ENSMUST00000165015]
[ENSMUST00000225582]
|
| AlphaFold |
Q9CYB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039562
AA Change: E205G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045009
Gene: ENSMUSG00000035235
AA Change: E205G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
57 |
1.31e-8 |
SMART |
|
BBOX
|
89 |
131 |
5.55e-12 |
SMART |
|
transmembrane domain
|
316 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051184
|
| SMART Domains |
Protein: ENSMUSP00000055327
Gene: ENSMUSG00000046168
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
5 |
106 |
8.7e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165015
AA Change: E205G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128509
Gene: ENSMUSG00000035235
AA Change: E205G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
57 |
1.31e-8 |
SMART |
|
BBOX
|
89 |
131 |
5.55e-12 |
SMART |
|
transmembrane domain
|
316 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225582
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
| Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
| AI661453 |
T |
G |
17: 47,778,263 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
| Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
| Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
| Crim1 |
C |
T |
17: 78,642,763 (GRCm39) |
R494* |
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
| Dntt |
T |
A |
19: 41,041,424 (GRCm39) |
|
probably null |
Het |
| Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
| Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
| Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
| Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
| Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
| Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
| Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,921,618 (GRCm39) |
H194L |
probably damaging |
Het |
| Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
| Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
| Poln |
G |
T |
5: 34,270,666 (GRCm39) |
S455* |
probably null |
Het |
| Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
| Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,583,202 (GRCm39) |
M360K |
possibly damaging |
Het |
| Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
| Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
| Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
| Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
|
| Other mutations in Trim13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Trim13
|
APN |
14 |
61,843,119 (GRCm39) |
missense |
probably benign |
|
|
IGL00811:Trim13
|
APN |
14 |
61,842,306 (GRCm39) |
splice site |
probably null |
|
|
IGL01760:Trim13
|
APN |
14 |
61,843,172 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02625:Trim13
|
APN |
14 |
61,842,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02926:Trim13
|
APN |
14 |
61,842,693 (GRCm39) |
splice site |
probably null |
|
|
IGL03231:Trim13
|
APN |
14 |
61,842,994 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0089:Trim13
|
UTSW |
14 |
61,842,166 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0811:Trim13
|
UTSW |
14 |
61,843,149 (GRCm39) |
missense |
probably benign |
|
|
R0812:Trim13
|
UTSW |
14 |
61,843,149 (GRCm39) |
missense |
probably benign |
|
|
R1515:Trim13
|
UTSW |
14 |
61,843,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1778:Trim13
|
UTSW |
14 |
61,843,068 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2018:Trim13
|
UTSW |
14 |
61,842,335 (GRCm39) |
nonsense |
probably null |
|
|
R2019:Trim13
|
UTSW |
14 |
61,842,335 (GRCm39) |
nonsense |
probably null |
|
|
R4865:Trim13
|
UTSW |
14 |
61,842,966 (GRCm39) |
missense |
probably benign |
|
|
R5456:Trim13
|
UTSW |
14 |
61,842,523 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5860:Trim13
|
UTSW |
14 |
61,842,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5921:Trim13
|
UTSW |
14 |
61,842,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7026:Trim13
|
UTSW |
14 |
61,842,562 (GRCm39) |
nonsense |
probably null |
|
|
R7147:Trim13
|
UTSW |
14 |
61,842,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Trim13
|
UTSW |
14 |
61,842,921 (GRCm39) |
missense |
probably benign |
|
|
R9181:Trim13
|
UTSW |
14 |
61,842,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation