Incidental Mutation 'R5823:Trim36'
ID |
450055 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim36
|
Ensembl Gene |
ENSMUSG00000033949 |
Gene Name |
tripartite motif-containing 36 |
Synonyms |
Haprin, D18Wsu100e |
MMRRC Submission |
043215-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.283)
|
Stock # |
R5823 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46302407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 535
(L535P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037011]
[ENSMUST00000167364]
|
AlphaFold |
Q80WG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037011
AA Change: L547P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037978 Gene: ENSMUSG00000033949 AA Change: L547P
Domain | Start | End | E-Value | Type |
RING
|
33 |
118 |
1.25e-5 |
SMART |
BBOX
|
207 |
249 |
1.82e-7 |
SMART |
Blast:BBC
|
256 |
381 |
5e-11 |
BLAST |
FN3
|
418 |
498 |
1.32e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167364
AA Change: L535P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129771 Gene: ENSMUSG00000033949 AA Change: L535P
Domain | Start | End | E-Value | Type |
RING
|
21 |
106 |
1.25e-5 |
SMART |
BBOX
|
195 |
237 |
1.82e-7 |
SMART |
Blast:BBC
|
244 |
369 |
4e-11 |
BLAST |
FN3
|
406 |
486 |
1.32e-1 |
SMART |
Pfam:SPRY
|
560 |
704 |
1.7e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
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. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Acsl3 |
G |
T |
1: 78,666,003 (GRCm39) |
R143L |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,622,529 (GRCm39) |
I420K |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,569,213 (GRCm39) |
E85G |
probably benign |
Het |
Dnah1 |
G |
T |
14: 30,988,375 (GRCm39) |
F3442L |
possibly damaging |
Het |
Dock6 |
T |
A |
9: 21,716,124 (GRCm39) |
N1737I |
probably damaging |
Het |
Fcf1 |
A |
G |
12: 85,020,921 (GRCm39) |
Y55C |
possibly damaging |
Het |
Fer1l6 |
T |
A |
15: 58,462,352 (GRCm39) |
Y802* |
probably null |
Het |
Fgf9 |
T |
G |
14: 58,320,759 (GRCm39) |
S10A |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,682,617 (GRCm39) |
I508T |
possibly damaging |
Het |
Flnc |
T |
C |
6: 29,461,201 (GRCm39) |
V2692A |
probably damaging |
Het |
Gm38119 |
G |
T |
3: 92,645,380 (GRCm39) |
H71Q |
unknown |
Het |
Hcn1 |
A |
T |
13: 117,739,388 (GRCm39) |
H50L |
unknown |
Het |
Helz2 |
T |
C |
2: 180,878,189 (GRCm39) |
T870A |
possibly damaging |
Het |
Iqcf4 |
T |
C |
9: 106,445,800 (GRCm39) |
I116V |
probably benign |
Het |
Lama5 |
T |
A |
2: 179,834,285 (GRCm39) |
I1383F |
probably benign |
Het |
Lmo2 |
C |
T |
2: 103,811,417 (GRCm39) |
T150I |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,318,655 (GRCm39) |
W476R |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
Mylk |
T |
A |
16: 34,715,317 (GRCm39) |
|
probably null |
Het |
Nat10 |
A |
T |
2: 103,560,612 (GRCm39) |
V731D |
probably damaging |
Het |
Ncapd2 |
A |
G |
6: 125,145,663 (GRCm39) |
V1328A |
probably benign |
Het |
Nfu1 |
C |
A |
6: 87,002,541 (GRCm39) |
Q207K |
probably damaging |
Het |
Nipsnap2 |
T |
A |
5: 129,816,833 (GRCm39) |
|
probably null |
Het |
Npc1 |
T |
C |
18: 12,324,846 (GRCm39) |
K1216E |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Phf3 |
T |
C |
1: 30,843,764 (GRCm39) |
I1732V |
probably damaging |
Het |
Rasgrp4 |
G |
T |
7: 28,837,142 (GRCm39) |
R67L |
probably benign |
Het |
Rubcn |
T |
C |
16: 32,670,091 (GRCm39) |
D88G |
probably damaging |
Het |
Slc30a2 |
T |
C |
4: 134,073,289 (GRCm39) |
I112T |
probably damaging |
Het |
Slc35d2 |
A |
G |
13: 64,268,419 (GRCm39) |
I78T |
probably damaging |
Het |
Slc9a4 |
T |
A |
1: 40,658,277 (GRCm39) |
M600K |
probably damaging |
Het |
Slfn8 |
A |
G |
11: 82,907,562 (GRCm39) |
I327T |
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,060,962 (GRCm39) |
I405V |
possibly damaging |
Het |
Thsd7b |
T |
C |
1: 129,605,821 (GRCm39) |
S521P |
probably benign |
Het |
Trim63 |
A |
T |
4: 134,043,842 (GRCm39) |
I102F |
probably damaging |
Het |
Wdr47 |
G |
A |
3: 108,550,401 (GRCm39) |
V809M |
probably damaging |
Het |
|
Other mutations in Trim36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01710:Trim36
|
APN |
18 |
46,321,455 (GRCm39) |
splice site |
probably benign |
|
IGL02728:Trim36
|
APN |
18 |
46,305,669 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03166:Trim36
|
APN |
18 |
46,345,388 (GRCm39) |
missense |
probably benign |
|
IGL03209:Trim36
|
APN |
18 |
46,300,575 (GRCm39) |
missense |
probably benign |
|
R0346:Trim36
|
UTSW |
18 |
46,332,776 (GRCm39) |
unclassified |
probably benign |
|
R0426:Trim36
|
UTSW |
18 |
46,305,592 (GRCm39) |
missense |
probably damaging |
0.97 |
R0463:Trim36
|
UTSW |
18 |
46,311,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0590:Trim36
|
UTSW |
18 |
46,305,643 (GRCm39) |
missense |
probably benign |
0.01 |
R0751:Trim36
|
UTSW |
18 |
46,329,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1037:Trim36
|
UTSW |
18 |
46,329,385 (GRCm39) |
splice site |
probably benign |
|
R1184:Trim36
|
UTSW |
18 |
46,329,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Trim36
|
UTSW |
18 |
46,319,250 (GRCm39) |
nonsense |
probably null |
|
R1571:Trim36
|
UTSW |
18 |
46,305,562 (GRCm39) |
missense |
probably benign |
0.01 |
R1687:Trim36
|
UTSW |
18 |
46,321,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2057:Trim36
|
UTSW |
18 |
46,329,229 (GRCm39) |
missense |
probably benign |
0.02 |
R2103:Trim36
|
UTSW |
18 |
46,329,149 (GRCm39) |
missense |
probably benign |
|
R2127:Trim36
|
UTSW |
18 |
46,345,404 (GRCm39) |
missense |
probably benign |
0.27 |
R3853:Trim36
|
UTSW |
18 |
46,305,439 (GRCm39) |
splice site |
probably benign |
|
R4209:Trim36
|
UTSW |
18 |
46,329,191 (GRCm39) |
missense |
probably benign |
0.44 |
R4787:Trim36
|
UTSW |
18 |
46,305,599 (GRCm39) |
missense |
probably benign |
0.10 |
R4810:Trim36
|
UTSW |
18 |
46,305,536 (GRCm39) |
missense |
probably benign |
0.07 |
R4953:Trim36
|
UTSW |
18 |
46,329,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5107:Trim36
|
UTSW |
18 |
46,305,705 (GRCm39) |
missense |
probably benign |
|
R5320:Trim36
|
UTSW |
18 |
46,300,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Trim36
|
UTSW |
18 |
46,302,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R6619:Trim36
|
UTSW |
18 |
46,321,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R7349:Trim36
|
UTSW |
18 |
46,302,495 (GRCm39) |
missense |
probably benign |
0.29 |
R7814:Trim36
|
UTSW |
18 |
46,300,691 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7853:Trim36
|
UTSW |
18 |
46,305,558 (GRCm39) |
missense |
probably benign |
0.14 |
R8008:Trim36
|
UTSW |
18 |
46,305,556 (GRCm39) |
missense |
probably benign |
0.34 |
R8294:Trim36
|
UTSW |
18 |
46,331,588 (GRCm39) |
missense |
probably benign |
0.02 |
R8735:Trim36
|
UTSW |
18 |
46,302,452 (GRCm39) |
missense |
probably benign |
0.10 |
R8899:Trim36
|
UTSW |
18 |
46,302,264 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9091:Trim36
|
UTSW |
18 |
46,300,580 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9106:Trim36
|
UTSW |
18 |
46,300,664 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9135:Trim36
|
UTSW |
18 |
46,302,410 (GRCm39) |
missense |
probably benign |
0.03 |
R9262:Trim36
|
UTSW |
18 |
46,300,506 (GRCm39) |
missense |
probably benign |
0.01 |
R9270:Trim36
|
UTSW |
18 |
46,300,580 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9505:Trim36
|
UTSW |
18 |
46,329,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9587:Trim36
|
UTSW |
18 |
46,308,722 (GRCm39) |
missense |
probably benign |
0.06 |
R9623:Trim36
|
UTSW |
18 |
46,308,623 (GRCm39) |
missense |
probably benign |
0.16 |
R9763:Trim36
|
UTSW |
18 |
46,309,125 (GRCm39) |
missense |
probably benign |
0.42 |
|
Predicted Primers |
PCR Primer
(F):5'- AACATACCTTGGACTAGCTGC -3'
(R):5'- TCCCTGCATCTAAGCTATCAGATG -3'
Sequencing Primer
(F):5'- CTTGGACTAGCTGCATCTCGG -3'
(R):5'- GCAGCTTTAAACTATGGAAATCCTGG -3'
|
Posted On |
2016-12-20 |