Mutagenetix > Incidental Mutation

Incidental Mutation 'R8272:Trim27'

637799

Institutional Source

Beutler Lab

Gene Symbol

Trim27

Ensembl Gene

ENSMUSG00000021326

Gene Name

tripartite motif-containing 27

Synonyms

Rfp

MMRRC Submission

067695-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R8272 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

21363615-21378894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21364780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 39 (C39Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021761 (fasta)

Gene Model

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

AlphaFold

Q62158

Predicted Effect

probably benign
Transcript: ENSMUST00000021761
AA Change: C39Y

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021761
Gene: ENSMUSG00000021326
AA Change: C39Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,859,118 (GRCm39)	E90*	probably null	Het
Abca15	A	G	7: 120,006,665 (GRCm39)	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,969,630 (GRCm39)	A123D	probably damaging	Het
Asmt	A	T	X: 169,106,460 (GRCm39)	D20V	possibly damaging	Het
Bid	T	C	6: 120,877,176 (GRCm39)	E55G	probably damaging	Het
Brd3	A	G	2: 27,351,725 (GRCm39)	V176A	probably benign	Het
Btnl2	G	T	17: 34,575,275 (GRCm39)		probably null	Het
Card11	A	G	5: 140,875,794 (GRCm39)	S562P	probably damaging	Het
Carmil1	T	G	13: 24,220,562 (GRCm39)	H1054P	probably benign	Het
Casp8	T	G	1: 58,872,901 (GRCm39)	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cfap45	G	A	1: 172,355,406 (GRCm39)	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,092,175 (GRCm39)	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175 (GRCm39)	P333L	possibly damaging	Het
Cspg4b	A	T	13: 113,504,889 (GRCm39)	D1979V		Het
Ctnna3	T	G	10: 64,838,377 (GRCm39)	V818G	probably damaging	Het
Cyp4f18	G	T	8: 72,742,935 (GRCm39)	L456M	probably benign	Het
Ddx50	A	G	10: 62,457,256 (GRCm39)	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dnah11	T	A	12: 118,074,752 (GRCm39)	T1367S	probably benign	Het
Fam98b	T	A	2: 117,093,335 (GRCm39)	C183S	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,388,828 (GRCm39)	S194A	probably benign	Het
Flrt3	G	T	2: 140,502,617 (GRCm39)	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,612,183 (GRCm39)	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,215,820 (GRCm39)	T677A	probably benign	Het
Grm8	A	T	6: 27,363,281 (GRCm39)	S745T	probably damaging	Het
Kctd8	T	C	5: 69,267,803 (GRCm39)	K436E	probably benign	Het
Klf5	G	T	14: 99,539,540 (GRCm39)	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,179,566 (GRCm39)	V505M	unknown	Het
Letm2	A	G	8: 26,076,672 (GRCm39)	L310P	probably damaging	Het
Lrrc4	T	C	6: 28,662,192 (GRCm39)	H174R	unknown	Het
Myh11	T	C	16: 14,036,718 (GRCm39)	S995G		Het
Myh7b	A	T	2: 155,474,824 (GRCm39)	E1787D	probably damaging	Het
Myoc	T	C	1: 162,466,995 (GRCm39)	S55P	probably benign	Het
Naaladl2	T	C	3: 24,112,366 (GRCm39)	Q572R	probably damaging	Het
Nanog	T	A	6: 122,688,736 (GRCm39)	S131T	probably benign	Het
Nifk	A	G	1: 118,260,134 (GRCm39)	K230E	probably benign	Het
Nlrp10	A	G	7: 108,525,103 (GRCm39)	S126P	probably benign	Het
Npc1l1	T	A	11: 6,179,327 (GRCm39)	K28*	probably null	Het
Or13m2-ps1	A	G	6: 42,778,038 (GRCm39)	D121G	probably damaging	Het
Or5b102	G	A	19: 13,040,795 (GRCm39)	V7M	possibly damaging	Het
Pcdhac2	T	A	18: 37,279,242 (GRCm39)	C741S	probably benign	Het
Pcx	A	T	19: 4,651,758 (GRCm39)	N45I	probably damaging	Het
Peak1	A	G	9: 56,166,182 (GRCm39)	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,546,218 (GRCm39)	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,654,789 (GRCm39)	A726V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp3	T	C	16: 17,026,969 (GRCm39)	V131A	possibly damaging	Het
Rrp1b	A	G	17: 32,276,163 (GRCm39)	K570R	probably benign	Het
Serpinb1a	A	T	13: 33,029,720 (GRCm39)	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,070,736 (GRCm39)	L1076S	probably damaging	Het
Sspo	A	T	6: 48,425,453 (GRCm39)	T25S	probably benign	Het
Syvn1	G	A	19: 6,097,971 (GRCm39)	R3H	probably damaging	Het
Tead2	A	G	7: 44,878,166 (GRCm39)	E280G	probably benign	Het
Tmem263	T	A	10: 84,950,431 (GRCm39)	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332 (GRCm39)	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,033,171 (GRCm39)	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,180,146 (GRCm39)	E62V	probably benign	Het
Vmn2r110	A	G	17: 20,816,490 (GRCm39)	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,702,373 (GRCm39)	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,596,817 (GRCm39)	F79L	probably benign	Het
Vps13a	A	G	19: 16,727,209 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,345,142 (GRCm39)	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,308,927 (GRCm39)	S718A	probably damaging	Het
Zfp78	A	G	7: 6,376,213 (GRCm39)	T41A	probably benign	Het

Other mutations in Trim27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Trim27	APN	13	21,376,662 (GRCm39)	missense	probably damaging	0.98
IGL02756:Trim27	APN	13	21,374,256 (GRCm39)	splice site	probably benign
IGL03199:Trim27	APN	13	21,375,421 (GRCm39)	splice site	probably null
R0016:Trim27	UTSW	13	21,375,399 (GRCm39)	missense	probably benign	0.14
R0016:Trim27	UTSW	13	21,375,399 (GRCm39)	missense	probably benign	0.14
R1709:Trim27	UTSW	13	21,372,235 (GRCm39)	critical splice donor site	probably null
R2188:Trim27	UTSW	13	21,367,987 (GRCm39)	missense	probably damaging	1.00
R4472:Trim27	UTSW	13	21,374,056 (GRCm39)	missense	probably benign	0.00
R4657:Trim27	UTSW	13	21,367,930 (GRCm39)	missense	probably damaging	1.00
R4677:Trim27	UTSW	13	21,365,086 (GRCm39)	critical splice donor site	probably null
R5019:Trim27	UTSW	13	21,374,134 (GRCm39)	missense	probably damaging	1.00
R5584:Trim27	UTSW	13	21,376,719 (GRCm39)	missense	probably damaging	1.00
R6226:Trim27	UTSW	13	21,365,086 (GRCm39)	critical splice donor site	probably benign
R6774:Trim27	UTSW	13	21,376,624 (GRCm39)	missense	probably damaging	1.00
R7378:Trim27	UTSW	13	21,376,631 (GRCm39)	missense	possibly damaging	0.92
R7573:Trim27	UTSW	13	21,364,770 (GRCm39)	missense	probably damaging	0.96
R7662:Trim27	UTSW	13	21,376,328 (GRCm39)	missense	probably benign	0.05
R8723:Trim27	UTSW	13	21,374,807 (GRCm39)	intron	probably benign
R8914:Trim27	UTSW	13	21,364,993 (GRCm39)	missense	possibly damaging	0.77
R9380:Trim27	UTSW	13	21,364,680 (GRCm39)	missense	probably benign	0.00
R9717:Trim27	UTSW	13	21,374,296 (GRCm39)	critical splice donor site	probably null
X0062:Trim27	UTSW	13	21,368,044 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGCAGAGGAAACCCGCTTTC -3'
(R):5'- AGTACAGCTTCAGAGGCTCC -3'

Sequencing Primer
(F):5'- TGTCGGTGAGGAGCAGC -3'
(R):5'- TTCAGAGGCTCCCGGTG -3'

Posted On

2020-07-28