Mutagenetix > Incidental Mutation

Incidental Mutation 'R9380:Trim27'

709965

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: 0.369) question?

Stock #

R9380 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

21363615-21378894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21364680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 6 (V6L)

Ref Sequence

ENSEMBL: ENSMUSP00000021761 (fasta)

Gene Model

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

AlphaFold

Q62158

Predicted Effect

probably benign
Transcript: ENSMUST00000021761
AA Change: V6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021761
Gene: ENSMUSG00000021326
AA Change: V6L

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: ENSMUST00000221464

Predicted Effect

probably benign
Transcript: ENSMUST00000222544
AA Change: V6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000223065
AA Change: V6L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	G	1: 78,659,602 (GRCm39)	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,206,994 (GRCm39)		probably null	Het
Aoc1l2	T	C	6: 48,910,064 (GRCm39)	I667T	probably damaging	Het
Asb10	A	C	5: 24,739,103 (GRCm39)		probably null	Het
B3galt9	G	A	2: 34,729,029 (GRCm39)	C276Y	probably damaging	Het
Bcl2a1d	G	A	9: 88,613,935 (GRCm39)		probably benign	Het
Camsap3	A	T	8: 3,653,999 (GRCm39)	K556N	probably benign	Het
Cd300lf	T	A	11: 115,015,153 (GRCm39)	T146S	probably benign	Het
Chuk	C	A	19: 44,062,958 (GRCm39)	A744S	unknown	Het
Clint1	A	T	11: 45,742,988 (GRCm39)	M4L	probably benign	Het
Cnot4	T	C	6: 35,029,865 (GRCm39)	I344M	possibly damaging	Het
Cpne1	T	C	2: 155,920,721 (GRCm39)	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,105,840 (GRCm39)	L159F	probably damaging	Het
Dnai2	T	C	11: 114,635,989 (GRCm39)	F325L	probably benign	Het
Dnal4	G	A	15: 79,647,790 (GRCm39)	S25L	possibly damaging	Het
Ep300	T	C	15: 81,500,245 (GRCm39)	M515T	unknown	Het
Ewsr1	T	C	11: 5,043,730 (GRCm39)	Y18C	possibly damaging	Het
Fam25a	T	C	14: 34,073,957 (GRCm39)	T72A	possibly damaging	Het
Flii	T	C	11: 60,606,297 (GRCm39)	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,222,547 (GRCm39)	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991 (GRCm39)	T323A	possibly damaging	Het
Furin	T	C	7: 80,041,506 (GRCm39)	I551V	probably benign	Het
Gbp11	A	G	5: 105,475,202 (GRCm39)	V382A	probably benign	Het
Gfod1	A	C	13: 43,354,320 (GRCm39)	D218E	probably damaging	Het
Glp2r	A	T	11: 67,637,572 (GRCm39)	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,580,850 (GRCm39)	P100T	possibly damaging	Het
Gne	A	T	4: 44,066,807 (GRCm39)	F69I	probably benign	Het
Hsd3b2	T	C	3: 98,619,453 (GRCm39)	K164R	probably damaging	Het
Hspa1b	T	C	17: 35,177,170 (GRCm39)	R272G	probably damaging	Het
Hydin	C	A	8: 111,290,504 (GRCm39)	T3321N	probably benign	Het
Impg1	A	T	9: 80,289,077 (GRCm39)	S327T	probably benign	Het
Izumo2	T	C	7: 44,364,812 (GRCm39)	V159A	probably benign	Het
Kat6b	T	C	14: 21,678,926 (GRCm39)	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,153,447 (GRCm39)	T226S	probably benign	Het
Kl	T	A	5: 150,912,342 (GRCm39)	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,928,331 (GRCm39)	P1266S	probably damaging	Het
Med13	A	T	11: 86,177,598 (GRCm39)	N1499K	probably benign	Het
Mybbp1a	A	G	11: 72,333,668 (GRCm39)	I182V	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nin	A	G	12: 70,074,805 (GRCm39)	L1859P		Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Or2y10	A	G	11: 49,454,904 (GRCm39)	D52G	possibly damaging	Het
Or4a67	A	T	2: 88,598,530 (GRCm39)	I43N	probably damaging	Het
Or4k1	C	A	14: 50,377,770 (GRCm39)	G109W	probably damaging	Het
Or8b50	A	G	9: 38,518,415 (GRCm39)	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,108,980 (GRCm39)	S421T	probably damaging	Het
Paqr7	A	G	4: 134,234,350 (GRCm39)	N69S	probably damaging	Het
Pcare	A	T	17: 72,056,351 (GRCm39)	S1109T	possibly damaging	Het
Pdgfrb	G	A	18: 61,197,920 (GRCm39)	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,356,417 (GRCm39)	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,769,262 (GRCm39)	L9Q	unknown	Het
Psmg4	A	T	13: 34,350,080 (GRCm39)	T71S	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Qser1	G	A	2: 104,619,691 (GRCm39)	Q284*	probably null	Het
Rcc2	G	T	4: 140,429,702 (GRCm39)	A79S	probably benign	Het
Rgl3	G	T	9: 21,888,123 (GRCm39)	Q464K	probably damaging	Het
Rhov	C	A	2: 119,100,604 (GRCm39)	R211L	probably benign	Het
Rp1l1	A	G	14: 64,266,475 (GRCm39)	D687G	probably benign	Het
Selenbp2	A	G	3: 94,609,654 (GRCm39)	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,238,625 (GRCm39)	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867 (GRCm39)	I352T	probably damaging	Het
Sucla2	T	A	14: 73,828,312 (GRCm39)	N306K	probably benign	Het
Suco	A	G	1: 161,646,074 (GRCm39)	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,226,771 (GRCm39)	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,665,796 (GRCm39)	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,666,381 (GRCm39)	F216L	probably benign	Het
Tead1	A	T	7: 112,441,105 (GRCm39)	H78L	possibly damaging	Het
Tex12	T	C	9: 50,469,586 (GRCm39)	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trank1	A	G	9: 111,221,738 (GRCm39)	E2825G	probably benign	Het
Trappc13	T	A	13: 104,280,707 (GRCm39)	Y399F	probably damaging	Het
Trim21	T	C	7: 102,212,992 (GRCm39)	D102G	probably damaging	Het
Trim55	A	G	3: 19,728,559 (GRCm39)	T457A	probably benign	Het
Trrap	A	G	5: 144,769,981 (GRCm39)	E2716G	probably benign	Het
Usp10	T	G	8: 120,682,943 (GRCm39)	L712R	probably damaging	Het
Vldlr	T	A	19: 27,216,192 (GRCm39)	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,673,680 (GRCm39)	I145V	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
R8272:Trim27	UTSW	13	21,364,780 (GRCm39)	missense	probably benign	0.14
R8723:Trim27	UTSW	13	21,374,807 (GRCm39)	intron	probably benign
R8914:Trim27	UTSW	13	21,364,993 (GRCm39)	missense	possibly damaging	0.77
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'- CAGTACAGCTTCAGAGGCTC -3'

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

Posted On

2022-04-18