Incidental Mutation 'IGL02398:Trim35'
| ID |
291751 |
| 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 # |
IGL02398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66534480-66548873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66546697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 488
(Y488C)
|
| 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: Y488C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022623
Gene: ENSMUSG00000022043
AA Change: Y488C
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,709,824 (GRCm39) |
C160* |
probably null |
Het |
| Alkbh8 |
C |
T |
9: 3,345,870 (GRCm39) |
P197S |
possibly damaging |
Het |
| Ankef1 |
A |
C |
2: 136,397,702 (GRCm39) |
N761T |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,866,696 (GRCm39) |
Y72C |
probably damaging |
Het |
| Cfap36 |
T |
G |
11: 29,172,833 (GRCm39) |
M231L |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,563,432 (GRCm39) |
C227R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,970 (GRCm39) |
E568D |
probably benign |
Het |
| Cwc27 |
G |
A |
13: 104,940,762 (GRCm39) |
T199I |
possibly damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,688,467 (GRCm39) |
I330V |
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dhrs7 |
G |
A |
12: 72,711,466 (GRCm39) |
R24C |
probably damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,127,455 (GRCm39) |
C838S |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,657,829 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
T |
A |
4: 127,219,855 (GRCm39) |
S226C |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,963 (GRCm39) |
I346V |
probably benign |
Het |
| Gm8050 |
T |
C |
14: 17,930,894 (GRCm39) |
E172G |
probably damaging |
Het |
| Higd1a |
G |
A |
9: 121,681,590 (GRCm39) |
R22W |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,678,648 (GRCm39) |
L491S |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
| Irgm2 |
A |
T |
11: 58,110,755 (GRCm39) |
I161F |
probably damaging |
Het |
| Lrp8 |
G |
T |
4: 107,704,691 (GRCm39) |
V304F |
probably damaging |
Het |
| Lrp8 |
C |
A |
4: 107,726,245 (GRCm39) |
S850R |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,513,677 (GRCm39) |
M513L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,978,178 (GRCm39) |
V1248E |
possibly damaging |
Het |
| Myo1b |
A |
T |
1: 51,797,050 (GRCm39) |
N945K |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,356,574 (GRCm39) |
L1604P |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,989,568 (GRCm39) |
Y169F |
probably benign |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or2a56 |
A |
T |
6: 42,933,046 (GRCm39) |
I205F |
probably benign |
Het |
| Or52r1c |
G |
A |
7: 102,735,313 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,162,868 (GRCm39) |
Y277* |
probably null |
Het |
| Parp8 |
A |
G |
13: 117,047,399 (GRCm39) |
|
probably null |
Het |
| Pde4dip |
T |
C |
3: 97,674,097 (GRCm39) |
Y273C |
probably benign |
Het |
| Pgbd5 |
C |
T |
8: 125,111,257 (GRCm39) |
A54T |
probably damaging |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,424 (GRCm39) |
|
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,302 (GRCm39) |
S1819R |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,913,540 (GRCm39) |
|
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,944,886 (GRCm39) |
I61V |
probably benign |
Het |
| Prlhr |
G |
T |
19: 60,455,753 (GRCm39) |
A271E |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,350,360 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,114 (GRCm39) |
S132R |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,020,980 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,677,767 (GRCm39) |
D1327G |
probably benign |
Het |
| Slit1 |
A |
C |
19: 41,590,676 (GRCm39) |
V1332G |
probably damaging |
Het |
| Spin2h |
A |
G |
X: 32,162,153 (GRCm39) |
D224G |
probably damaging |
Het |
| Tmem178b |
A |
G |
6: 40,184,461 (GRCm39) |
M120V |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,630 (GRCm39) |
C106R |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,840,703 (GRCm39) |
H326Q |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,950,536 (GRCm39) |
I315K |
probably benign |
Het |
| Zfp654 |
A |
G |
16: 64,606,381 (GRCm39) |
V607A |
probably benign |
Het |
|
| Other mutations in Trim35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01652:Trim35
|
APN |
14 |
66,546,250 (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 |
2015-04-16 |
Incidental Mutation