Incidental Mutation 'R3156:Triml2'
| ID |
263497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Triml2
|
| Ensembl Gene |
ENSMUSG00000091490 |
| Gene Name |
tripartite motif family-like 2 |
| Synonyms |
EG622117 |
| MMRRC Submission |
040607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
43633578-43646918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43640716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 191
(N191D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163869]
[ENSMUST00000209200]
[ENSMUST00000209872]
[ENSMUST00000210136]
|
| AlphaFold |
E9PW10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163869
AA Change: N191D
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: N191D
| 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 benign
Transcript: ENSMUST00000209200
AA Change: N191D
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210136
AA Change: N191D
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211228
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (39/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Adra2b |
T |
C |
2: 127,205,570 (GRCm39) |
L29P |
probably damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Atad1 |
A |
T |
19: 32,684,355 (GRCm39) |
N14K |
probably benign |
Het |
| Cbl |
T |
C |
9: 44,070,147 (GRCm39) |
I533M |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,935,612 (GRCm39) |
N368D |
possibly damaging |
Het |
| Cfap45 |
A |
T |
1: 172,373,291 (GRCm39) |
N543Y |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,363,414 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,219,032 (GRCm39) |
T633A |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,438,237 (GRCm39) |
|
probably benign |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,654 (GRCm39) |
V275A |
probably benign |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
| Hmgcs1 |
C |
T |
13: 120,166,614 (GRCm39) |
T402I |
probably benign |
Het |
| Hps6 |
A |
G |
19: 45,992,180 (GRCm39) |
D39G |
probably damaging |
Het |
| Mab21l4 |
T |
A |
1: 93,087,764 (GRCm39) |
I30F |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,446,179 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,796,262 (GRCm39) |
|
probably null |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,250,720 (GRCm39) |
|
probably null |
Het |
| Patj |
A |
G |
4: 98,562,465 (GRCm39) |
E1478G |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,832,878 (GRCm39) |
T304A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,816,711 (GRCm39) |
T288A |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,902,518 (GRCm39) |
V383A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,844,605 (GRCm39) |
S143T |
possibly damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,747,421 (GRCm39) |
I322N |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,260,016 (GRCm39) |
|
probably null |
Het |
| Tex2 |
A |
G |
11: 106,424,695 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
T |
15: 76,523,721 (GRCm39) |
L64Q |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,603,185 (GRCm39) |
|
probably null |
Het |
| Yeats4 |
C |
T |
10: 117,058,186 (GRCm39) |
V22I |
probably benign |
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 |
|
R2210:Triml2
|
UTSW |
8 |
43,636,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTAGGCAAAACACCAGTTCAC -3'
(R):5'- TCTTCAGACATATGCCCAAAGTG -3'
Sequencing Primer
(F):5'- CATGAGGAGATGCATCTG -3'
(R):5'- GACCATCGACAGTATTCATAGTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation