Incidental Mutation 'IGL03231:Trim13'
| ID |
413896 |
| 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 # |
IGL03231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61835696-61843395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61842994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 337
(E337G)
|
| 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: E337G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045009
Gene: ENSMUSG00000035235
AA Change: E337G
| 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: E337G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128509
Gene: ENSMUSG00000035235
AA Change: E337G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
| Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
| Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
| Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
| Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
| Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
| Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
| Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
| Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
| Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
| Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
| Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
| Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
| Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation