Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Trim68'

197451

Institutional Source

Beutler Lab

Gene Symbol

Trim68

Ensembl Gene

ENSMUSG00000073968

Gene Name

tripartite motif-containing 68

Synonyms

SS-56, Rnf137, F730114J12Rik

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102326789-102336534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102333280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 134 (I134T)

Ref Sequence

ENSEMBL: ENSMUSP00000080813 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082175
AA Change: I134T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080813
Gene: ENSMUSG00000073968
AA Change: I134T

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: ENSMUST00000209621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210855
AA Change: I134T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211052

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,091,138 (GRCm39)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,835,836 (GRCm39)		probably null	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Or9s27	G	A	1: 92,516,111 (GRCm39)	V20M	probably benign	Het
Pgm3	T	G	9: 86,438,257 (GRCm39)	E509D	probably damaging	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,320,356 (GRCm39)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Slc13a3	T	C	2: 165,248,619 (GRCm39)	N553S	unknown	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	probably damaging	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
IGL02835:Trim68	UTSW	7	102,327,780 (GRCm39)	missense	probably benign	0.21
R1765:Trim68	UTSW	7	102,329,597 (GRCm39)	missense	possibly damaging	0.82
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'- TGCATGGTCCTGGTAAAGCAAGC -3'
(R):5'- AGAACTTGAGCTACACCTGTCCCC -3'

Sequencing Primer
(F):5'- TCCATGTTAAGACTCAAGATGGGAC -3'
(R):5'- AGCTCCCGTGAAGCCAAG -3'

Posted On

2014-05-23