Incidental Mutation 'IGL00788:Trim13'
ID |
14569 |
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 # |
IGL00788
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
61835696-61843395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61843119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 379
(F379L)
|
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: F379L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000045009 Gene: ENSMUSG00000035235 AA Change: F379L
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: F379L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128509 Gene: ENSMUSG00000035235 AA Change: F379L
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
Armh3 |
C |
T |
19: 45,920,789 (GRCm39) |
|
probably null |
Het |
Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
Chst9 |
A |
G |
18: 15,586,087 (GRCm39) |
Y159H |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,829,432 (GRCm39) |
|
probably benign |
Het |
Cops4 |
A |
G |
5: 100,681,421 (GRCm39) |
E152G |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,031,906 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Trim13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-12-06 |