Incidental Mutation 'R1571:Trim36'
ID |
186237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim36
|
Ensembl Gene |
ENSMUSG00000033949 |
Gene Name |
tripartite motif-containing 36 |
Synonyms |
Haprin, D18Wsu100e |
MMRRC Submission |
039610-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.283)
|
Stock # |
R1571 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46305562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 462
(K462E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037011]
[ENSMUST00000167364]
|
AlphaFold |
Q80WG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037011
AA Change: K474E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000037978 Gene: ENSMUSG00000033949 AA Change: K474E
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 benign
Transcript: ENSMUST00000167364
AA Change: K462E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000129771 Gene: ENSMUSG00000033949 AA Change: K462E
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610524H06Rik |
A |
G |
5: 114,961,372 (GRCm39) |
|
probably null |
Het |
Abcd3 |
T |
C |
3: 121,586,491 (GRCm39) |
I70V |
possibly damaging |
Het |
Acad10 |
T |
C |
5: 121,759,411 (GRCm39) |
Y1024C |
probably damaging |
Het |
Atp2b3 |
T |
G |
X: 72,588,712 (GRCm39) |
V701G |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,342,347 (GRCm39) |
M21K |
probably damaging |
Het |
Cdc25a |
C |
T |
9: 109,710,614 (GRCm39) |
T106I |
possibly damaging |
Het |
Cdhr5 |
T |
C |
7: 140,852,083 (GRCm39) |
T190A |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
Clcn6 |
T |
C |
4: 148,097,226 (GRCm39) |
T614A |
possibly damaging |
Het |
Cntln |
A |
T |
4: 84,865,823 (GRCm39) |
R160* |
probably null |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dock3 |
C |
A |
9: 106,815,158 (GRCm39) |
M1236I |
possibly damaging |
Het |
Eif4g3 |
T |
A |
4: 137,847,719 (GRCm39) |
H213Q |
probably damaging |
Het |
Eya1 |
T |
A |
1: 14,279,141 (GRCm39) |
H372L |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,630,485 (GRCm39) |
V91A |
possibly damaging |
Het |
Hat1 |
T |
A |
2: 71,264,519 (GRCm39) |
I319K |
probably benign |
Het |
Kcnf1 |
T |
C |
12: 17,225,853 (GRCm39) |
N123D |
probably benign |
Het |
Kcns3 |
C |
A |
12: 11,141,551 (GRCm39) |
G383W |
probably damaging |
Het |
Kprp |
A |
T |
3: 92,732,689 (GRCm39) |
C120* |
probably null |
Het |
Lama3 |
T |
A |
18: 12,672,774 (GRCm39) |
C2456S |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,366,658 (GRCm39) |
D539E |
probably damaging |
Het |
Matn3 |
T |
C |
12: 9,005,466 (GRCm39) |
L292S |
probably damaging |
Het |
Mbd3l1 |
T |
A |
9: 18,395,947 (GRCm39) |
I24N |
probably damaging |
Het |
Med10 |
T |
C |
13: 69,958,159 (GRCm39) |
L37P |
probably damaging |
Het |
Mrc1 |
A |
T |
2: 14,313,544 (GRCm39) |
H925L |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,409,290 (GRCm39) |
I3219N |
probably damaging |
Het |
Nom1 |
C |
T |
5: 29,647,633 (GRCm39) |
Q623* |
probably null |
Het |
Nrm |
T |
A |
17: 36,175,079 (GRCm39) |
W136R |
probably damaging |
Het |
Or8h8 |
A |
C |
2: 86,753,789 (GRCm39) |
V29G |
probably benign |
Het |
Pde7b |
T |
C |
10: 20,288,836 (GRCm39) |
N298S |
probably benign |
Het |
Piezo2 |
C |
T |
18: 63,277,990 (GRCm39) |
A305T |
possibly damaging |
Het |
Pimreg |
T |
C |
11: 71,936,042 (GRCm39) |
L175P |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,390,237 (GRCm39) |
D1451G |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,355,128 (GRCm39) |
S212G |
probably benign |
Het |
Rhpn1 |
C |
T |
15: 75,585,967 (GRCm39) |
R627C |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnase4 |
T |
G |
14: 51,342,497 (GRCm39) |
F74V |
probably damaging |
Het |
Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
Selp |
T |
C |
1: 163,954,176 (GRCm39) |
Y159H |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,000,853 (GRCm39) |
T21A |
probably damaging |
Het |
Slco1a7 |
A |
T |
6: 141,700,135 (GRCm39) |
C132* |
probably null |
Het |
Slco3a1 |
T |
C |
7: 74,154,128 (GRCm39) |
D148G |
possibly damaging |
Het |
Smtn |
G |
A |
11: 3,480,102 (GRCm39) |
P373L |
probably benign |
Het |
Snx20 |
A |
T |
8: 89,356,597 (GRCm39) |
L73Q |
probably damaging |
Het |
Sobp |
A |
G |
10: 43,033,942 (GRCm39) |
V128A |
possibly damaging |
Het |
Tcerg1 |
A |
G |
18: 42,657,357 (GRCm39) |
T280A |
unknown |
Het |
Tgfbrap1 |
A |
G |
1: 43,088,973 (GRCm39) |
V810A |
probably benign |
Het |
Thbs1 |
C |
A |
2: 117,949,678 (GRCm39) |
D589E |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,078,239 (GRCm39) |
Y885H |
probably damaging |
Het |
Tmem109 |
A |
G |
19: 10,849,993 (GRCm39) |
S100P |
probably damaging |
Het |
Vmn1r226 |
A |
T |
17: 20,908,538 (GRCm39) |
I257F |
probably damaging |
Het |
Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
Wdcp |
T |
A |
12: 4,901,924 (GRCm39) |
Y593* |
probably null |
Het |
Wdr59 |
T |
C |
8: 112,177,682 (GRCm39) |
S907G |
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 |
|
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 |
R5823:Trim36
|
UTSW |
18 |
46,302,407 (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'- TGGAGACACTCTACACTTCTGGGC -3'
(R):5'- TGCGGAGGGAAATGCTGTCTTAAC -3'
Sequencing Primer
(F):5'- ACACTTCTGGGCCTCTCC -3'
(R):5'- AATTCTTTCAGGCATAGACATTCC -3'
|
Posted On |
2014-05-09 |