Incidental Mutation 'R0590:Trim36'
| ID |
55947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim36
|
| Ensembl Gene |
ENSMUSG00000033949 |
| Gene Name |
tripartite motif-containing 36 |
| Synonyms |
Haprin, D18Wsu100e |
| MMRRC Submission |
038780-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R0590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 46305643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 435
(S435R)
|
| 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: S447R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: S447R
| 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: S435R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: S435R
| 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 |
|
| Meta Mutation Damage Score |
0.0641 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
| Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
| Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
| Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
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 |
|
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 |
|
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'- TGATGCCAATTTAGCCCCAATCGT -3'
(R):5'- TTTGCGGAGGGAAATGCTGTCTTAA -3'
Sequencing Primer
(F):5'- ATGGAGACACTCTACACTTCTGG -3'
(R):5'- GGGAAATGCTGTCTTAACATCG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation