Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Trim27'

730559

Institutional Source

Beutler Lab

Gene Symbol

Trim27

Ensembl Gene

ENSMUSG00000021326

Gene Name

tripartite motif-containing 27

Synonyms

Rfp

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21179445-21194724 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21190126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021761] [ENSMUST00000221464] [ENSMUST00000222544] [ENSMUST00000223065]

AlphaFold

Q62158

Predicted Effect

probably null
Transcript: ENSMUST00000021761

SMART Domains

Protein: ENSMUSP00000021761
Gene: ENSMUSG00000021326

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

probably benign
Transcript: ENSMUST00000139287

Predicted Effect

probably benign
Transcript: ENSMUST00000221464

Predicted Effect

probably benign
Transcript: ENSMUST00000222544

Predicted Effect

probably benign
Transcript: ENSMUST00000223065

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Trim27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Trim27	APN	13	21192492	missense	probably damaging	0.98
IGL02756:Trim27	APN	13	21190086	splice site	probably benign
IGL03199:Trim27	APN	13	21191251	splice site	probably null
R0016:Trim27	UTSW	13	21191229	missense	probably benign	0.14
R0016:Trim27	UTSW	13	21191229	missense	probably benign	0.14
R1709:Trim27	UTSW	13	21188065	critical splice donor site	probably null
R2188:Trim27	UTSW	13	21183817	missense	probably damaging	1.00
R4472:Trim27	UTSW	13	21189886	missense	probably benign	0.00
R4657:Trim27	UTSW	13	21183760	missense	probably damaging	1.00
R4677:Trim27	UTSW	13	21180916	critical splice donor site	probably null
R5019:Trim27	UTSW	13	21189964	missense	probably damaging	1.00
R5584:Trim27	UTSW	13	21192549	missense	probably damaging	1.00
R6226:Trim27	UTSW	13	21180916	critical splice donor site	probably benign
R6774:Trim27	UTSW	13	21192454	missense	probably damaging	1.00
R7378:Trim27	UTSW	13	21192461	missense	possibly damaging	0.92
R7573:Trim27	UTSW	13	21180600	missense	probably damaging	0.96
R7662:Trim27	UTSW	13	21192158	missense	probably benign	0.05
R8272:Trim27	UTSW	13	21180610	missense	probably benign	0.14
R8723:Trim27	UTSW	13	21190637	intron	probably benign
R8914:Trim27	UTSW	13	21180823	missense	possibly damaging	0.77
R9380:Trim27	UTSW	13	21180510	missense	probably benign	0.00
X0062:Trim27	UTSW	13	21183874	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CAGAAAGTCTAAAACAGTTCACAGG -3'
(R):5'- CTGGTTACTAGCCACCGAAC -3'

Sequencing Primer
(F):5'- TAAAACAGTTCACAGGTAATATGAGG -3'
(R):5'- GCTAGACTGGGCTACACATTATGAC -3'

Posted On

2022-10-06