Incidental Mutation 'R6165:Trim35'
| ID |
490110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim35
|
| Ensembl Gene |
ENSMUSG00000022043 |
| Gene Name |
tripartite motif-containing 35 |
| Synonyms |
A430106H13Rik, Hls5, Mair, 0710005M05Rik |
| MMRRC Submission |
044311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
66534480-66548873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66546654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 474
(Y474H)
|
| 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: Y474H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022623
Gene: ENSMUSG00000022043
AA Change: Y474H
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
| Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
| Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
| Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
| Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
| Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
| Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
| Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
| Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
| Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
| Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
| Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
| Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
| Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
| Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTACCATGATACACGCTC -3'
(R):5'- CTGGGTGGCTCCTAACTTTG -3'
Sequencing Primer
(F):5'- ATGATACACGCTCAGGCTTCTGG -3'
(R):5'- GGCTCCTAACTTTGGAGCTACAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation