Mutagenetix > Incidental Mutation

Incidental Mutation 'R5159:Trim25'

396889

Institutional Source

Beutler Lab

Gene Symbol

Trim25

Ensembl Gene

ENSMUSG00000000275

Gene Name

tripartite motif-containing 25

Synonyms

Zfp147, estrogen-responsive finger protein

MMRRC Submission

042741-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5159 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

88890202-88911119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88890358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000103528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000284] [ENSMUST00000100627] [ENSMUST00000107896]

AlphaFold

Q61510

PDB Structure

PRY-SPRY domain of Trim25 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000000284
AA Change: V15A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000000284
Gene: ENSMUSG00000000275
AA Change: V15A

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: V15A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098192
Gene: ENSMUSG00000000275
AA Change: V15A

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: V15A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103528
Gene: ENSMUSG00000000275
AA Change: V15A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128078

Meta Mutation Damage Score

0.7603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,352 (GRCm39)	T412A	probably benign	Het
Aldh5a1	T	A	13: 25,097,776 (GRCm39)	M420L	possibly damaging	Het
Armc2	A	G	10: 41,884,711 (GRCm39)	S77P	probably damaging	Het
Avil	A	G	10: 126,856,317 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,100,530 (GRCm39)	H323R	probably damaging	Het
Bmp5	T	A	9: 75,801,035 (GRCm39)	F388L	probably damaging	Het
Brca2	T	G	5: 150,465,573 (GRCm39)	V1779G	possibly damaging	Het
Cblb	T	A	16: 51,932,483 (GRCm39)	S147T	probably damaging	Het
Cblc	T	C	7: 19,519,233 (GRCm39)	E409G	probably benign	Het
Cdc34b	C	T	11: 94,632,886 (GRCm39)	R29W	probably damaging	Het
Clic6	T	A	16: 92,324,954 (GRCm39)	Y371N	probably benign	Het
Col5a2	A	G	1: 45,425,991 (GRCm39)		probably null	Het
Coro1a	A	T	7: 126,302,221 (GRCm39)	V42D	probably damaging	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Crb1	A	C	1: 139,170,756 (GRCm39)	V817G	probably damaging	Het
Cyp2c39	A	G	19: 39,549,378 (GRCm39)	T299A	possibly damaging	Het
Dock5	G	A	14: 68,029,738 (GRCm39)	R1019C	probably benign	Het
Exoc8	T	C	8: 125,622,952 (GRCm39)	T472A	probably benign	Het
Fancc	A	G	13: 63,469,679 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,852,733 (GRCm39)	M1340K	probably benign	Het
Inpp5d	T	C	1: 87,604,064 (GRCm39)	L244P	probably damaging	Het
Ireb2	A	G	9: 54,799,831 (GRCm39)	N424S	probably benign	Het
Krt35	T	C	11: 99,984,875 (GRCm39)	D261G	probably damaging	Het
Lipc	T	A	9: 70,720,192 (GRCm39)	I272L	probably benign	Het
Lpcat3	A	G	6: 124,676,357 (GRCm39)		probably benign	Het
Lzts1	T	C	8: 69,591,236 (GRCm39)	D304G	probably benign	Het
Mdn1	A	G	4: 32,774,008 (GRCm39)	I5540V	possibly damaging	Het
Msln	T	C	17: 25,970,563 (GRCm39)	S231G	probably benign	Het
Mup8	G	A	4: 60,221,062 (GRCm39)	T101M	probably benign	Het
Myh8	T	C	11: 67,179,179 (GRCm39)	I524T	probably damaging	Het
Pappa2	A	G	1: 158,589,189 (GRCm39)	C1679R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,416 (GRCm39)	S456P	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,719 (GRCm39)	N389S	probably benign	Het
Pitrm1	C	A	13: 6,617,507 (GRCm39)	S620R	probably benign	Het
Plod3	T	A	5: 137,023,932 (GRCm39)		probably benign	Het
Por	A	T	5: 135,759,771 (GRCm39)	Q194L	probably benign	Het
Prkag3	A	T	1: 74,780,646 (GRCm39)	Y396N	probably damaging	Het
R3hcc1	T	C	14: 69,935,053 (GRCm39)		probably null	Het
Rcan3	C	T	4: 135,152,592 (GRCm39)	S43N	probably damaging	Het
Rhot1	A	G	11: 80,111,098 (GRCm39)	T31A	probably damaging	Het
Rnps1	T	G	17: 24,637,486 (GRCm39)	S43A	unknown	Het
Rp1	T	C	1: 4,416,426 (GRCm39)	D1562G	possibly damaging	Het
Rps19-ps13	A	G	18: 40,859,428 (GRCm39)		noncoding transcript	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Smc2	G	A	4: 52,460,181 (GRCm39)	R519Q	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Sptbn2	A	G	19: 4,787,885 (GRCm39)	T955A	probably benign	Het
Stfa3	T	C	16: 36,272,581 (GRCm39)	K40E	probably damaging	Het
Tmem87b	A	G	2: 128,666,378 (GRCm39)	E75G	probably benign	Het
Tmprss15	T	C	16: 78,800,298 (GRCm39)	Q595R	probably benign	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trat1	T	C	16: 48,555,300 (GRCm39)	D144G	probably damaging	Het
Tulp1	A	C	17: 28,578,034 (GRCm39)		probably null	Het
Txndc15	T	A	13: 55,865,734 (GRCm39)	M66K	probably benign	Het
Vmn1r206	T	A	13: 22,804,775 (GRCm39)	N144I	probably damaging	Het
Wwc2	T	C	8: 48,353,796 (GRCm39)	T113A	probably benign	Het
Xpo5	A	C	17: 46,528,535 (GRCm39)	E313D	probably damaging	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	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
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
R6867:Trim25	UTSW	11	88,901,713 (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'- ATAATCACCTTTGGCTTCCAGC -3'
(R):5'- TTCACTGCGATCTCCGTCAG -3'

Sequencing Primer
(F):5'- GACCCACGTGACTTCCTGAAG -3'
(R):5'- ATCTCCGTCAGGCAGTGGTC -3'

Posted On

2016-06-21