Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02835:Trim68'

391972

Institutional Source

Beutler Lab

Gene Symbol

Trim68

Ensembl Gene

ENSMUSG00000073968

Gene Name

tripartite motif-containing 68

Synonyms

SS-56, Rnf137, F730114J12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102326789-102336534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102327780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 391 (Y391F)

Ref Sequence

ENSEMBL: ENSMUSP00000080813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082175] [ENSMUST00000210855]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082175
AA Change: Y391F

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080813
Gene: ENSMUSG00000073968
AA Change: Y391F

Domain	Start	End	E-Value	Type
RING	16	60	1.61e-8	SMART
BBOX	93	134	9.89e-9	SMART
coiled coil region	187	226	N/A	INTRINSIC
PRY	302	354	1.91e-24	SMART
SPRY	355	482	3.03e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210406

Predicted Effect

probably benign
Transcript: ENSMUST00000210855

Meta Mutation Damage Score

0.2060

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (57/58)

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-containing protein family, whose members are characterized by a "really interesting new gene" (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,937,284 (GRCm39)	K208*	probably null	Het
A530016L24Rik	A	C	12: 112,461,420 (GRCm39)		probably null	Het
A830018L16Rik	A	C	1: 12,042,279 (GRCm39)	D433A	possibly damaging	Het
Abca13	T	A	11: 9,401,515 (GRCm39)	I3985N	probably damaging	Het
Abhd17c	C	T	7: 83,800,731 (GRCm39)	D108N	probably benign	Het
Adam29	C	T	8: 56,326,173 (GRCm39)	D94N	probably damaging	Het
Agr2	A	G	12: 36,045,903 (GRCm39)	D50G	probably benign	Het
Angptl1	A	G	1: 156,686,090 (GRCm39)	D392G	probably benign	Het
Apob	A	G	12: 8,065,097 (GRCm39)	N3989S	possibly damaging	Het
AU018091	T	C	7: 3,218,897 (GRCm39)	D12G	unknown	Het
Cyfip2	A	T	11: 46,140,598 (GRCm39)	S742T	probably benign	Het
Dlc1	C	T	8: 37,051,055 (GRCm39)	S892N	probably damaging	Het
Dsg1b	A	G	18: 20,525,071 (GRCm39)	N169S	possibly damaging	Het
Egfem1	T	C	3: 29,711,390 (GRCm39)	L323P	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Fjx1	G	A	2: 102,281,092 (GRCm39)	A281V	possibly damaging	Het
Fmn2	T	A	1: 174,409,625 (GRCm39)	D619E	unknown	Het
Gm4795	A	C	10: 44,882,254 (GRCm39)		noncoding transcript	Het
Gm5117	T	C	8: 32,227,198 (GRCm39)		noncoding transcript	Het
Gm5250	T	C	1: 13,132,418 (GRCm39)		noncoding transcript	Het
Gtdc1	A	T	2: 44,646,324 (GRCm39)	Y101*	probably null	Het
Herc6	T	C	6: 57,623,146 (GRCm39)	I583T	possibly damaging	Het
Hyal4	G	A	6: 24,765,714 (GRCm39)	R356H	probably benign	Het
Il22ra2	C	A	10: 19,502,424 (GRCm39)	T81K	probably benign	Het
Iqcm	T	A	8: 76,281,511 (GRCm39)		probably benign	Het
Izumo4	G	A	10: 80,540,959 (GRCm39)	V220I	probably benign	Het
Kif16b	A	T	2: 142,554,133 (GRCm39)	D899E	probably benign	Het
Lrp2	A	T	2: 69,335,648 (GRCm39)	N1358K	probably damaging	Het
Lrrk2	A	G	15: 91,698,863 (GRCm39)		probably null	Het
Lyst	C	T	13: 13,835,685 (GRCm39)	T1789M	possibly damaging	Het
Map4k4	A	G	1: 40,049,760 (GRCm39)	T732A	probably damaging	Het
Mdh1b	A	T	1: 63,757,816 (GRCm39)	I305N	probably damaging	Het
Mettl13	A	G	1: 162,373,585 (GRCm39)	I222T	probably damaging	Het
Mtcl2	G	A	2: 156,883,854 (GRCm39)	T363I	possibly damaging	Het
Muc4	T	C	16: 32,584,319 (GRCm39)	F2583L	probably benign	Het
Nbea	C	T	3: 55,625,290 (GRCm39)	R2267Q	possibly damaging	Het
Ndfip1	T	C	18: 38,589,144 (GRCm39)	Y178H	probably damaging	Het
Nin	A	T	12: 70,103,512 (GRCm39)	F243I	probably damaging	Het
Nlrp10	A	T	7: 108,523,869 (GRCm39)	I537K	possibly damaging	Het
Nup155	T	C	15: 8,172,614 (GRCm39)	Y867H	probably damaging	Het
Pakap	C	G	4: 57,883,044 (GRCm39)	P837A	probably damaging	Het
Pik3r4	A	C	9: 105,549,905 (GRCm39)	I999L	probably benign	Het
Pitpnm3	G	A	11: 71,952,292 (GRCm39)		probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polg2	A	T	11: 106,666,266 (GRCm39)	V293E	probably benign	Het
Pramel22	T	A	4: 143,380,817 (GRCm39)	Y402F	probably damaging	Het
Prok1	T	C	3: 107,144,531 (GRCm39)		probably null	Het
Ptcd1	T	C	5: 145,091,500 (GRCm39)	D533G	possibly damaging	Het
Ptpn13	T	C	5: 103,707,891 (GRCm39)	V1484A	probably damaging	Het
Rapgef2	A	T	3: 79,000,293 (GRCm39)		probably benign	Het
Serpinb8	T	G	1: 107,530,586 (GRCm39)	F121L	probably damaging	Het
Sh3rf1	T	A	8: 61,679,081 (GRCm39)	V41E	probably damaging	Het
Snx13	A	G	12: 35,182,126 (GRCm39)	N725S	possibly damaging	Het
Stab1	A	T	14: 30,867,981 (GRCm39)		probably null	Het
Themis	A	T	10: 28,637,616 (GRCm39)		probably benign	Het
Trmt1	T	G	8: 85,423,589 (GRCm39)	V327G	probably null	Het
Vill	C	T	9: 118,896,513 (GRCm39)	T120M	probably benign	Het

Other mutations in Trim68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Trim68	APN	7	102,328,348 (GRCm39)	splice site	probably null
IGL02703:Trim68	APN	7	102,333,286 (GRCm39)	missense	probably damaging	0.99
R1765:Trim68	UTSW	7	102,329,597 (GRCm39)	missense	possibly damaging	0.82
R1780:Trim68	UTSW	7	102,333,280 (GRCm39)	missense	possibly damaging	0.58
R4107:Trim68	UTSW	7	102,327,658 (GRCm39)	missense	probably benign	0.01
R4451:Trim68	UTSW	7	102,333,680 (GRCm39)	start codon destroyed	probably damaging	1.00
R5385:Trim68	UTSW	7	102,327,990 (GRCm39)	missense	probably damaging	1.00
R5793:Trim68	UTSW	7	102,333,560 (GRCm39)	missense	possibly damaging	0.74
R5980:Trim68	UTSW	7	102,328,038 (GRCm39)	missense	probably damaging	1.00
R6749:Trim68	UTSW	7	102,327,990 (GRCm39)	missense	probably damaging	0.99
R6912:Trim68	UTSW	7	102,333,675 (GRCm39)	missense	probably damaging	1.00
R7396:Trim68	UTSW	7	102,327,569 (GRCm39)	nonsense	probably null
R7789:Trim68	UTSW	7	102,333,676 (GRCm39)	missense	possibly damaging	0.61
R7892:Trim68	UTSW	7	102,328,004 (GRCm39)	missense	unknown
R8096:Trim68	UTSW	7	102,327,649 (GRCm39)	missense	probably damaging	1.00
R8922:Trim68	UTSW	7	102,327,550 (GRCm39)	missense	probably benign	0.03
R8986:Trim68	UTSW	7	102,327,808 (GRCm39)	nonsense	probably null
R9026:Trim68	UTSW	7	102,329,447 (GRCm39)	missense	probably damaging	0.96
X0067:Trim68	UTSW	7	102,333,339 (GRCm39)	missense	probably benign	0.00
Z1176:Trim68	UTSW	7	102,328,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAATGTGGGAGGCACCATC -3'
(R):5'- GCGTCTAGATCCAGACACAG -3'

Sequencing Primer
(F):5'- GGAGGCACCATCAGTCACATTATAG -3'
(R):5'- AAGTGTGCACTATGGAGTCACCC -3'

Posted On

2016-06-08