Incidental Mutation 'R3853:Trim36'
| ID |
276037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim36
|
| Ensembl Gene |
ENSMUSG00000033949 |
| Gene Name |
tripartite motif-containing 36 |
| Synonyms |
Haprin, D18Wsu100e |
| MMRRC Submission |
040900-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R3853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 46305439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037011]
[ENSMUST00000167364]
|
| AlphaFold |
Q80WG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037011
|
| SMART Domains |
Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
96% (47/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,976 (GRCm39) |
H316L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,509,090 (GRCm38) |
|
probably benign |
Het |
| Cluh |
A |
G |
11: 74,547,279 (GRCm39) |
D44G |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,822,551 (GRCm39) |
V726A |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,582,291 (GRCm39) |
V79A |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,720,554 (GRCm39) |
I291F |
probably benign |
Het |
| Eya4 |
C |
T |
10: 22,992,574 (GRCm39) |
A460T |
probably damaging |
Het |
| Gjd3 |
G |
T |
11: 102,690,952 (GRCm39) |
D350E |
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,475 (GRCm39) |
M343V |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,046 (GRCm39) |
Y146C |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,139 (GRCm39) |
Q32* |
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,598,075 (GRCm39) |
L373P |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,254,655 (GRCm39) |
C642R |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,356,092 (GRCm39) |
Q139R |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,101,562 (GRCm39) |
N410K |
probably benign |
Het |
| Or10g7 |
A |
T |
9: 39,905,450 (GRCm39) |
T115S |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,357,917 (GRCm39) |
M279K |
possibly damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,862 (GRCm39) |
T247A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,781 (GRCm39) |
Y36N |
probably damaging |
Het |
| Or8b1 |
G |
T |
9: 38,400,247 (GRCm39) |
R307S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,518,580 (GRCm39) |
|
probably benign |
Het |
| Prkce |
A |
G |
17: 86,476,277 (GRCm39) |
D86G |
probably damaging |
Het |
| Pwwp3b |
C |
T |
X: 138,137,403 (GRCm39) |
|
probably null |
Het |
| Rad21 |
T |
G |
15: 51,835,712 (GRCm39) |
I234L |
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,932 (GRCm39) |
M1695K |
possibly damaging |
Het |
| Sdccag8 |
T |
C |
1: 176,681,361 (GRCm39) |
S325P |
probably damaging |
Het |
| Sebox |
G |
A |
11: 78,394,975 (GRCm39) |
G106R |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,199,503 (GRCm39) |
E266G |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,390 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,372 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,884 (GRCm39) |
L474* |
probably null |
Het |
| Tmem132c |
T |
C |
5: 127,436,933 (GRCm39) |
Y141H |
probably benign |
Het |
| Trap1 |
G |
A |
16: 3,872,686 (GRCm39) |
R328C |
possibly damaging |
Het |
| Trmt2a |
A |
T |
16: 18,069,055 (GRCm39) |
Y299F |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,728,975 (GRCm39) |
K630E |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,567,333 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,775,335 (GRCm39) |
C1677F |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Usp9x |
A |
G |
X: 12,964,822 (GRCm39) |
D77G |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zan |
A |
C |
5: 137,472,326 (GRCm39) |
L140R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,709,346 (GRCm39) |
S508T |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,777 (GRCm39) |
Y419C |
possibly 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 |
|
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'- GATGCCAATTTAGCCCCAATCG -3'
(R):5'- ACAGCTATGTTCTAGAATACCGC -3'
Sequencing Primer
(F):5'- GGGGGTCTGATATCAATCAAAATC -3'
(R):5'- TACCGCAAGATTAATAGAGACGAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation