Mutagenetix > Incidental Mutation

Incidental Mutation 'R6149:Trim25'

489085

Institutional Source

Beutler Lab

Gene Symbol

Trim25

Ensembl Gene

ENSMUSG00000000275

Gene Name

tripartite motif-containing 25

Synonyms

Zfp147, estrogen-responsive finger protein

MMRRC Submission

044296-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88890202-88911119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88906362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 387 (V387D)

Ref Sequence

ENSEMBL: ENSMUSP00000000284 (fasta)

Gene Model

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

AlphaFold

Q61510

Predicted Effect

probably benign
Transcript: ENSMUST00000000284
AA Change: V387D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000000284
Gene: ENSMUSG00000000275
AA Change: V387D

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

SMART Domains

Protein: ENSMUSP00000098192
Gene: ENSMUSG00000000275

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: V395D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103528
Gene: ENSMUSG00000000275
AA Change: V395D

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,777,211 (GRCm39)	R115S	probably benign	Het
Adgre1	A	G	17: 57,752,018 (GRCm39)	K589E	probably benign	Het
Adgrv1	A	T	13: 81,330,893 (GRCm39)	L74Q	probably damaging	Het
Avil	A	G	10: 126,842,451 (GRCm39)	I77V	probably benign	Het
Best2	T	C	8: 85,739,896 (GRCm39)	E57G	probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Catsperb	T	A	12: 101,516,098 (GRCm39)	I578K	probably damaging	Het
Chsy1	A	G	7: 65,775,133 (GRCm39)	Y154C	probably damaging	Het
Chuk	A	G	19: 44,090,270 (GRCm39)	V74A	probably damaging	Het
Ckb	T	C	12: 111,638,248 (GRCm39)	S49G	probably damaging	Het
Crtac1	A	G	19: 42,272,048 (GRCm39)	Y632H	unknown	Het
Ern1	C	A	11: 106,296,641 (GRCm39)	E770*	probably null	Het
Fam114a2	A	C	11: 57,378,415 (GRCm39)	V450G	probably benign	Het
Fgf15	C	T	7: 144,453,506 (GRCm39)	Q125*	probably null	Het
Frem2	A	T	3: 53,458,762 (GRCm39)	S2036T	probably damaging	Het
Fxr2	G	A	11: 69,540,030 (GRCm39)	V296I	probably benign	Het
Gm15264	C	A	3: 94,640,736 (GRCm39)		noncoding transcript	Het
Ifi213	A	T	1: 173,421,581 (GRCm39)	S103T	probably benign	Het
Igkv5-37	T	A	6: 69,940,472 (GRCm39)	Q57H	probably damaging	Het
Il1rap	A	G	16: 26,530,969 (GRCm39)	Y435C	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lcor	T	A	19: 41,573,641 (GRCm39)	W799R	probably damaging	Het
Lnp1	C	T	16: 56,737,735 (GRCm39)	E118K	probably benign	Het
Lrif1	A	C	3: 106,639,643 (GRCm39)	K243Q	possibly damaging	Het
Lrp1b	G	T	2: 40,765,165 (GRCm39)		probably null	Het
Lvrn	G	A	18: 47,017,499 (GRCm39)	V610I	probably benign	Het
Med1	T	C	11: 98,074,679 (GRCm39)	K67R	possibly damaging	Het
Midn	T	C	10: 79,990,291 (GRCm39)	S278P	probably damaging	Het
Nrap	A	G	19: 56,377,885 (GRCm39)	V35A	possibly damaging	Het
Nynrin	A	T	14: 56,091,780 (GRCm39)	Q32L	possibly damaging	Het
Oog1	C	T	12: 87,653,043 (GRCm39)	T113I	possibly damaging	Het
Or10ak7	A	G	4: 118,791,628 (GRCm39)	L139P	probably damaging	Het
Or10j3	G	T	1: 173,031,582 (GRCm39)	V220F	probably benign	Het
Or4x11	C	T	2: 89,867,860 (GRCm39)	A199V	probably benign	Het
Or5b21	A	T	19: 12,839,723 (GRCm39)	I195F	probably benign	Het
Or6a2	T	C	7: 106,600,807 (GRCm39)	I87V	probably benign	Het
Otogl	C	T	10: 107,717,314 (GRCm39)	V386I	probably benign	Het
Patj	A	G	4: 98,312,562 (GRCm39)	N300S	possibly damaging	Het
Pcdhb16	T	A	18: 37,612,208 (GRCm39)	D389E	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,939 (GRCm39)	I699V	probably benign	Het
Pfas	A	G	11: 68,882,771 (GRCm39)	V790A	probably benign	Het
Plppr4	A	T	3: 117,116,043 (GRCm39)	C605S	probably benign	Het
Ppl	G	A	16: 4,925,460 (GRCm39)	Q60*	probably null	Het
Ppp1r1c	A	G	2: 79,586,810 (GRCm39)	K52R	possibly damaging	Het
Pramel29	A	G	4: 143,933,983 (GRCm39)	S375P	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rpe65	G	A	3: 159,319,780 (GRCm39)	E217K	probably benign	Het
Rufy4	T	C	1: 74,186,892 (GRCm39)	I560T	probably benign	Het
Ryr2	T	C	13: 11,683,903 (GRCm39)	S3054G	probably benign	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Sf3b1	A	T	1: 55,046,666 (GRCm39)	W293R	probably damaging	Het
Sik1	A	T	17: 32,067,771 (GRCm39)	S435T	possibly damaging	Het
Slc2a12	G	T	10: 22,540,401 (GRCm39)	M85I	probably benign	Het
Stk36	T	C	1: 74,673,388 (GRCm39)	S1094P	probably benign	Het
Tctn1	A	T	5: 122,384,649 (GRCm39)	Y393N	probably benign	Het
Tex9	C	T	9: 72,369,282 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,899,942 (GRCm39)		probably null	Het
Tmprss7	A	T	16: 45,494,268 (GRCm39)	C412*	probably null	Het
Tpp1	T	C	7: 105,396,934 (GRCm39)	T399A	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vill	T	G	9: 118,887,482 (GRCm39)	V82G	possibly damaging	Het
Vmn1r189	T	C	13: 22,286,054 (GRCm39)	D261G	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r111	G	A	17: 22,767,796 (GRCm39)	T567I	probably benign	Het
Vmn2r60	A	G	7: 41,786,400 (GRCm39)	Y401C	probably damaging	Het
Zc3h11a	G	A	1: 133,566,613 (GRCm39)	R69*	probably null	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
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'- GTTCTTACAAATGTGTGCCCG -3'
(R):5'- TTTGGGTGCGGCTAGAAGAC -3'

Sequencing Primer
(F):5'- CTTACAAATGTGTGCCCGTGAGG -3'
(R):5'- GTGCGGCTAGAAGACAAAAC -3'

Posted On

2017-10-10