Incidental Mutation 'R6867:Trim25'
| ID |
535987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim25
|
| Ensembl Gene |
ENSMUSG00000000275 |
| Gene Name |
tripartite motif-containing 25 |
| Synonyms |
Zfp147, estrogen-responsive finger protein |
| MMRRC Submission |
045028-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6867 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
88890202-88911119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88901713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 336
(I336T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000284]
[ENSMUST00000100627]
[ENSMUST00000107896]
|
| AlphaFold |
Q61510 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000284
AA Change: I336T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000000284
Gene: ENSMUSG00000000275
AA Change: I336T
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
13 |
53 |
8.04e-9 |
SMART |
|
Blast:SPEC
|
189 |
288 |
5e-34 |
BLAST |
|
PDB:4LTB|B
|
189 |
380 |
7e-69 |
PDB |
|
PRY
|
453 |
505 |
3.44e-17 |
SMART |
|
SPRY
|
506 |
626 |
9.62e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100627
AA Change: I336T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000098192
Gene: ENSMUSG00000000275
AA Change: I336T
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
13 |
53 |
8.04e-9 |
SMART |
|
Blast:BBOX
|
151 |
186 |
3e-8 |
BLAST |
|
Blast:SPEC
|
189 |
288 |
2e-37 |
BLAST |
|
PDB:4LTB|B
|
189 |
380 |
2e-71 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107896
AA Change: I336T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103528
Gene: ENSMUSG00000000275
AA Change: I336T
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
13 |
53 |
8.04e-9 |
SMART |
|
Blast:SPEC
|
189 |
288 |
3e-34 |
BLAST |
|
PDB:4LTB|B
|
189 |
380 |
8e-69 |
PDB |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
PRY
|
461 |
513 |
3.44e-17 |
SMART |
|
SPRY
|
514 |
634 |
9.62e-31 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (43/43) |
| 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. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Engineered mutations result in a compromised response to estrogen resulting in functional but small uteri. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
| Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,739 (GRCm39) |
|
probably null |
Het |
| F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
| Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
| Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
| Ipp |
T |
A |
4: 116,367,606 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Neurod4 |
C |
G |
10: 130,106,583 (GRCm39) |
K230N |
probably damaging |
Het |
| Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
| Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
| Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
| Rasgrp2 |
G |
A |
19: 6,463,213 (GRCm39) |
S504N |
probably benign |
Het |
| Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
| Slc35e2 |
A |
G |
4: 155,703,157 (GRCm39) |
E390G |
probably benign |
Het |
| Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
| Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
| Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
| Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
| Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
| Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,468,668 (GRCm39) |
P111T |
probably damaging |
Het |
|
| Other mutations in Trim25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01707:Trim25
|
APN |
11 |
88,890,517 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02398:Trim25
|
APN |
11 |
88,890,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03150:Trim25
|
APN |
11 |
88,890,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Trim25
|
UTSW |
11 |
88,906,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0184:Trim25
|
UTSW |
11 |
88,890,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Trim25
|
UTSW |
11 |
88,890,564 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1855:Trim25
|
UTSW |
11 |
88,906,407 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1936:Trim25
|
UTSW |
11 |
88,895,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2229:Trim25
|
UTSW |
11 |
88,907,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3401:Trim25
|
UTSW |
11 |
88,901,707 (GRCm39) |
missense |
probably benign |
|
|
R5159:Trim25
|
UTSW |
11 |
88,890,358 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5378:Trim25
|
UTSW |
11 |
88,900,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Trim25
|
UTSW |
11 |
88,906,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6996:Trim25
|
UTSW |
11 |
88,890,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7055:Trim25
|
UTSW |
11 |
88,890,750 (GRCm39) |
missense |
probably benign |
|
|
R7310:Trim25
|
UTSW |
11 |
88,906,608 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7451:Trim25
|
UTSW |
11 |
88,906,563 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7632:Trim25
|
UTSW |
11 |
88,906,602 (GRCm39) |
missense |
probably null |
0.91 |
|
R7767:Trim25
|
UTSW |
11 |
88,899,943 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8132:Trim25
|
UTSW |
11 |
88,907,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8785:Trim25
|
UTSW |
11 |
88,904,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8978:Trim25
|
UTSW |
11 |
88,907,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9135:Trim25
|
UTSW |
11 |
88,899,988 (GRCm39) |
missense |
probably benign |
|
|
R9189:Trim25
|
UTSW |
11 |
88,901,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9348:Trim25
|
UTSW |
11 |
88,900,167 (GRCm39) |
nonsense |
probably null |
|
|
R9667:Trim25
|
UTSW |
11 |
88,907,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Trim25
|
UTSW |
11 |
88,906,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Trim25
|
UTSW |
11 |
88,906,422 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAACCTTGGCCGTGTG -3'
(R):5'- AGCAGAGACGGTTTCAGGAC -3'
Sequencing Primer
(F):5'- CTGTTGCCATAGGAACCATCAGTG -3'
(R):5'- GACGGTTTCAGGACCCTTGAAATTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation