Incidental Mutation 'R2210:Triml2'
| ID |
239318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Triml2
|
| Ensembl Gene |
ENSMUSG00000091490 |
| Gene Name |
tripartite motif family-like 2 |
| Synonyms |
EG622117 |
| MMRRC Submission |
040212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2210 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
43633578-43646918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43636397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 61
(Y61H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163869]
[ENSMUST00000209200]
[ENSMUST00000209872]
[ENSMUST00000210136]
|
| AlphaFold |
E9PW10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163869
AA Change: Y61H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: Y61H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-B_box
|
13 |
51 |
7e-7 |
PFAM |
|
PRY
|
242 |
294 |
2.86e-14 |
SMART |
|
Pfam:SPRY
|
297 |
414 |
2.2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209200
AA Change: Y61H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209872
AA Change: Y61H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210136
AA Change: Y61H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211228
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
| Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
| Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
| Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
| Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
| Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
| Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
| Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
| Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
| Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably damaging |
Het |
|
| Other mutations in Triml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Triml2
|
APN |
8 |
43,640,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01919:Triml2
|
APN |
8 |
43,643,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Triml2
|
APN |
8 |
43,646,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0025:Triml2
|
UTSW |
8 |
43,638,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Triml2
|
UTSW |
8 |
43,638,306 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Triml2
|
UTSW |
8 |
43,638,306 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Triml2
|
UTSW |
8 |
43,643,346 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1671:Triml2
|
UTSW |
8 |
43,636,780 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2143:Triml2
|
UTSW |
8 |
43,646,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Triml2
|
UTSW |
8 |
43,640,716 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3902:Triml2
|
UTSW |
8 |
43,643,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4981:Triml2
|
UTSW |
8 |
43,640,717 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6125:Triml2
|
UTSW |
8 |
43,640,659 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6478:Triml2
|
UTSW |
8 |
43,638,165 (GRCm39) |
splice site |
probably null |
|
|
R6994:Triml2
|
UTSW |
8 |
43,643,115 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7037:Triml2
|
UTSW |
8 |
43,646,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Triml2
|
UTSW |
8 |
43,636,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7660:Triml2
|
UTSW |
8 |
43,646,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Triml2
|
UTSW |
8 |
43,638,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7971:Triml2
|
UTSW |
8 |
43,643,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF011:Triml2
|
UTSW |
8 |
43,636,201 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGAATGTCCCAAGCGCC -3'
(R):5'- AGGGTTCCCTATCTCAGCTC -3'
Sequencing Primer
(F):5'- CCAAGCCCCAGTTACCTG -3'
(R):5'- CAAACTTGGAGATTCGCCTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation