Incidental Mutation 'IGL01760:Trim13'
| ID |
153254 |
| 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 # |
IGL01760
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61835696-61843395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61843172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 396
(N396K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039562]
[ENSMUST00000051184]
[ENSMUST00000165015]
[ENSMUST00000225582]
|
| AlphaFold |
Q9CYB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039562
AA Change: N396K
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000045009
Gene: ENSMUSG00000035235
AA Change: N396K
| 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 benign
Transcript: ENSMUST00000165015
AA Change: N396K
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128509
Gene: ENSMUSG00000035235
AA Change: N396K
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,022,292 (GRCm39) |
V185D |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
| Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
C |
11: 30,884,731 (GRCm39) |
S441A |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
| Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
| Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
| Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
| Napa |
A |
G |
7: 15,832,669 (GRCm39) |
N23S |
possibly damaging |
Het |
| Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,677,016 (GRCm39) |
N273K |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
| Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,552,055 (GRCm39) |
N385S |
probably benign |
Het |
| Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,132,867 (GRCm39) |
Y276C |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
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 |
|
|
IGL02411:Trim13
|
APN |
14 |
61,842,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation