Incidental Mutation 'IGL01652:Trim35'
| ID |
102860 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim35
|
| Ensembl Gene |
ENSMUSG00000022043 |
| Gene Name |
tripartite motif-containing 35 |
| Synonyms |
A430106H13Rik, Hls5, Mair, 0710005M05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66534480-66548873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 66546250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 339
(V339G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022623]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022623
AA Change: V339G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022623
Gene: ENSMUSG00000022043
AA Change: V339G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
RING
|
36 |
75 |
6.89e-8 |
SMART |
|
BBOX
|
111 |
152 |
1.27e-6 |
SMART |
|
coiled coil region
|
219 |
267 |
N/A |
INTRINSIC |
|
PRY
|
316 |
367 |
4.41e-15 |
SMART |
|
Pfam:SPRY
|
370 |
495 |
3.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121006
|
| SMART Domains |
Protein: ENSMUSP00000112877
Gene: ENSMUSG00000022043
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
RING
|
30 |
69 |
6.89e-8 |
SMART |
|
BBOX
|
105 |
146 |
1.27e-6 |
SMART |
|
coiled coil region
|
212 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,929,397 (GRCm39) |
D158V |
probably damaging |
Het |
| Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,009,543 (GRCm39) |
N143D |
probably damaging |
Het |
| Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,738,685 (GRCm39) |
T171A |
probably benign |
Het |
| Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
| Icam1 |
T |
C |
9: 20,930,472 (GRCm39) |
Y109H |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
| Stard3 |
T |
G |
11: 98,269,559 (GRCm39) |
|
probably benign |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
probably benign |
Het |
|
| Other mutations in Trim35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02398:Trim35
|
APN |
14 |
66,546,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Trim35
|
APN |
14 |
66,546,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0759:Trim35
|
UTSW |
14 |
66,546,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0799:Trim35
|
UTSW |
14 |
66,546,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Trim35
|
UTSW |
14 |
66,546,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1170:Trim35
|
UTSW |
14 |
66,546,248 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1734:Trim35
|
UTSW |
14 |
66,546,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1751:Trim35
|
UTSW |
14 |
66,541,617 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1767:Trim35
|
UTSW |
14 |
66,541,617 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2259:Trim35
|
UTSW |
14 |
66,546,711 (GRCm39) |
nonsense |
probably null |
|
|
R3963:Trim35
|
UTSW |
14 |
66,541,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Trim35
|
UTSW |
14 |
66,545,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Trim35
|
UTSW |
14 |
66,546,421 (GRCm39) |
unclassified |
probably benign |
|
|
R5069:Trim35
|
UTSW |
14 |
66,546,421 (GRCm39) |
unclassified |
probably benign |
|
|
R5070:Trim35
|
UTSW |
14 |
66,546,421 (GRCm39) |
unclassified |
probably benign |
|
|
R5372:Trim35
|
UTSW |
14 |
66,534,715 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5886:Trim35
|
UTSW |
14 |
66,541,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Trim35
|
UTSW |
14 |
66,541,502 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6018:Trim35
|
UTSW |
14 |
66,546,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Trim35
|
UTSW |
14 |
66,546,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Trim35
|
UTSW |
14 |
66,540,653 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6476:Trim35
|
UTSW |
14 |
66,546,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Trim35
|
UTSW |
14 |
66,546,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7192:Trim35
|
UTSW |
14 |
66,534,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Trim35
|
UTSW |
14 |
66,546,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7546:Trim35
|
UTSW |
14 |
66,540,696 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7644:Trim35
|
UTSW |
14 |
66,534,546 (GRCm39) |
missense |
unknown |
|
|
R7916:Trim35
|
UTSW |
14 |
66,546,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Trim35
|
UTSW |
14 |
66,534,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8524:Trim35
|
UTSW |
14 |
66,544,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Trim35
|
UTSW |
14 |
66,545,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation