Incidental Mutation 'R5019:Trim27'
| ID |
389104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim27
|
| Ensembl Gene |
ENSMUSG00000021326 |
| Gene Name |
tripartite motif-containing 27 |
| Synonyms |
Rfp |
| MMRRC Submission |
042610-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R5019 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21363615-21378894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21374134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 294
(F294L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021761]
[ENSMUST00000221464]
[ENSMUST00000222544]
[ENSMUST00000223065]
|
| AlphaFold |
Q62158 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021761
AA Change: F294L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021761
Gene: ENSMUSG00000021326
AA Change: F294L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
2.53e-6 |
SMART |
|
BBOX
|
91 |
132 |
4.71e-15 |
SMART |
|
low complexity region
|
146 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
210 |
N/A |
INTRINSIC |
|
PRY
|
315 |
367 |
7.09e-28 |
SMART |
|
SPRY
|
368 |
493 |
1e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124794
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139287
AA Change: F37L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221464
AA Change: F118L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222544
AA Change: F294L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223065
AA Change: F294L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0796 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
92% (35/38) |
| 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 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. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit exhibit increased potassium/calcium channel activity and TCR-stimulated calcium influx in Th1 and Th2 CD4 T cells. Mice homozygous for another gene trap allele exhibit decreased incidence of chemically-induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
| Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
| Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
| Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
| Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
| Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
| Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
| Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
| Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
| Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
| Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
| Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
probably benign |
Het |
|
| Other mutations in Trim27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01865:Trim27
|
APN |
13 |
21,376,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02756:Trim27
|
APN |
13 |
21,374,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL03199:Trim27
|
APN |
13 |
21,375,421 (GRCm39) |
splice site |
probably null |
|
|
R0016:Trim27
|
UTSW |
13 |
21,375,399 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0016:Trim27
|
UTSW |
13 |
21,375,399 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1709:Trim27
|
UTSW |
13 |
21,372,235 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2188:Trim27
|
UTSW |
13 |
21,367,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4472:Trim27
|
UTSW |
13 |
21,374,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4657:Trim27
|
UTSW |
13 |
21,367,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Trim27
|
UTSW |
13 |
21,365,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5584:Trim27
|
UTSW |
13 |
21,376,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Trim27
|
UTSW |
13 |
21,365,086 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6774:Trim27
|
UTSW |
13 |
21,376,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Trim27
|
UTSW |
13 |
21,376,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7573:Trim27
|
UTSW |
13 |
21,364,770 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7662:Trim27
|
UTSW |
13 |
21,376,328 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8272:Trim27
|
UTSW |
13 |
21,364,780 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8723:Trim27
|
UTSW |
13 |
21,374,807 (GRCm39) |
intron |
probably benign |
|
|
R8914:Trim27
|
UTSW |
13 |
21,364,993 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9380:Trim27
|
UTSW |
13 |
21,364,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9717:Trim27
|
UTSW |
13 |
21,374,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0062:Trim27
|
UTSW |
13 |
21,368,044 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGTCCTCAAGGTTGAAG -3'
(R):5'- CCTGGACTGTCTATATACTCGC -3'
Sequencing Primer
(F):5'- TCCTCAAGGTTGAAGGATTGAG -3'
(R):5'- ATACTCGCTTCTTTCCAAGAAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation