Incidental Mutation 'IGL02625:Trim13'
| ID |
301036 |
| 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 # |
IGL02625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61835696-61843395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61842999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 339
(S339T)
|
| 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: S339T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045009
Gene: ENSMUSG00000035235
AA Change: S339T
| 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: S339T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128509
Gene: ENSMUSG00000035235
AA Change: S339T
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg6 |
T |
A |
4: 99,634,584 (GRCm39) |
C109S |
probably damaging |
Het |
| Arhgdia |
C |
A |
11: 120,471,039 (GRCm39) |
E53D |
probably benign |
Het |
| Ccr4 |
A |
C |
9: 114,321,401 (GRCm39) |
C221W |
probably damaging |
Het |
| Ces2a |
G |
A |
8: 105,466,910 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
G |
T |
5: 24,796,709 (GRCm39) |
E552* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,451,168 (GRCm39) |
|
probably null |
Het |
| Esr1 |
A |
T |
10: 4,951,346 (GRCm39) |
T575S |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,545,965 (GRCm39) |
C93R |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,482,114 (GRCm39) |
R523W |
unknown |
Het |
| Fryl |
C |
T |
5: 73,227,220 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,779,836 (GRCm39) |
H194P |
probably benign |
Het |
| Gaa |
G |
A |
11: 119,165,559 (GRCm39) |
V350I |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,519,257 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,678,417 (GRCm39) |
H136L |
probably benign |
Het |
| H4c16 |
C |
T |
6: 136,781,335 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,239,953 (GRCm39) |
D507G |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,674,422 (GRCm39) |
E728G |
probably benign |
Het |
| Kat14 |
G |
A |
2: 144,244,365 (GRCm39) |
R406H |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,413,900 (GRCm39) |
D863E |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,410,355 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,893,485 (GRCm39) |
S584P |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,085 (GRCm39) |
L58F |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,503,413 (GRCm39) |
I506M |
probably benign |
Het |
| Nudt17 |
G |
A |
3: 96,613,780 (GRCm39) |
R266W |
probably damaging |
Het |
| Or4a47 |
A |
G |
2: 89,665,740 (GRCm39) |
L183P |
probably damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,018 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52h9 |
A |
G |
7: 104,202,780 (GRCm39) |
Y218C |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,803,714 (GRCm39) |
E529G |
probably benign |
Het |
| Prss32 |
A |
T |
17: 24,075,210 (GRCm39) |
I187F |
possibly damaging |
Het |
| Prss55 |
A |
T |
14: 64,316,818 (GRCm39) |
I108K |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,095,741 (GRCm39) |
M109V |
probably benign |
Het |
| Rho |
A |
T |
6: 115,912,158 (GRCm39) |
M207L |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,012,611 (GRCm39) |
D291G |
probably damaging |
Het |
| Slco2b1 |
A |
C |
7: 99,309,330 (GRCm39) |
|
probably null |
Het |
| Stx11 |
T |
A |
10: 12,817,661 (GRCm39) |
D21V |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,115,807 (GRCm39) |
Y962F |
possibly damaging |
Het |
| Tbx5 |
G |
T |
5: 119,974,972 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,830,039 (GRCm39) |
G141W |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,206,407 (GRCm39) |
M296T |
probably damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,239 (GRCm39) |
K133E |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,877,739 (GRCm39) |
V1050A |
probably benign |
Het |
| Vmn2r86 |
T |
G |
10: 130,288,781 (GRCm39) |
N240T |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,452,704 (GRCm39) |
Y393C |
probably damaging |
Het |
| Zfp619 |
A |
T |
7: 39,183,609 (GRCm39) |
|
probably benign |
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 |
|
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