Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Trim25'

23984

Institutional Source

Beutler Lab

Gene Symbol

Trim25

Ensembl Gene

ENSMUSG00000000275

Gene Name

tripartite motif-containing 25

Synonyms

Zfp147, estrogen-responsive finger protein

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

88890202-88911119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88890466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 51 (P51L)

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 damaging
Transcript: ENSMUST00000000284
AA Change: P51L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000284
Gene: ENSMUSG00000000275
AA Change: P51L

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 damaging
Transcript: ENSMUST00000100627
AA Change: P51L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098192
Gene: ENSMUSG00000000275
AA Change: P51L

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 damaging
Transcript: ENSMUST00000107896
AA Change: P51L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103528
Gene: ENSMUSG00000000275
AA Change: P51L

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

0.8862

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,316,101 (GRCm39)	N443I	probably benign	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Klk1	C	T	7: 43,878,173 (GRCm39)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Poli	A	G	18: 70,655,802 (GRCm39)	S248P	probably damaging	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Twf1	T	A	15: 94,478,948 (GRCm39)		probably null	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,469,863 (GRCm39)	M86T	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Vrk2	C	A	11: 26,500,046 (GRCm39)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	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
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
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'- CCAGGTCCCATAATCACCTTTGGC -3'
(R):5'- CCAAGCAGATATGGCAGATGCACTC -3'

Sequencing Primer
(F):5'- ACGTGACTTCCTGAAGCC -3'
(R):5'- TCAAGTGCTCCTGGCAGAAAG -3'

Posted On

2013-04-16