Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Trim68'

539090

Institutional Source

Beutler Lab

Gene Symbol

Trim68

Ensembl Gene

ENSMUSG00000073968

Gene Name

tripartite motif-containing 68

Synonyms

Rnf137, F730114J12Rik, SS-56

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102677582-102687327 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102684468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2 (D2E)

Ref Sequence

ENSEMBL: ENSMUSP00000147991 (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: D2E

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080813
Gene: ENSMUSG00000073968
AA Change: D2E

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

probably damaging
Transcript: ENSMUST00000210855
AA Change: D2E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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-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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,501,147	T67I	possibly damaging	Het
4931406P16Rik	A	G	7: 34,245,668	S384P	probably benign	Het
Abca5	A	T	11: 110,306,280	M524K	probably benign	Het
Aco2	G	A	15: 81,895,396	V134I	probably benign	Het
Acsf2	C	T	11: 94,570,380	M323I	probably benign	Het
Acvr1	T	C	2: 58,447,573	D499G	probably benign	Het
Armc5	G	A	7: 128,240,425	C305Y	probably damaging	Het
Astl	T	C	2: 127,356,386	I286T	probably benign	Het
Atp8a2	G	A	14: 60,012,410	S544L	probably benign	Het
Bbs7	G	T	3: 36,605,704	A194E	probably benign	Het
Brca2	A	G	5: 150,541,742	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,639,700	S1283L	probably benign	Het
Creld2	T	C	15: 88,819,997	S64P	probably damaging	Het
Crtc1	T	C	8: 70,398,311	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,791,119	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,294,871	M487V	probably benign	Het
Dnah12	T	C	14: 26,878,079	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,750,183	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,648,221		probably null	Het
Erf	T	C	7: 25,244,578	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,616,611	I720F	probably benign	Het
Fam83b	T	A	9: 76,490,932	E963V	probably damaging	Het
Fat1	T	A	8: 45,051,023	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,788,080	K118*	probably null	Het
Fcgbp	A	T	7: 28,089,704	Y565F	probably benign	Het
Gm128	A	T	3: 95,240,429	S185T	probably benign	Het
Gm6309	C	T	5: 146,168,830	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprin2	T	C	14: 34,194,640	Y391C	probably damaging	Het
Hexa	T	C	9: 59,539,938	L72P	probably damaging	Het
Hrasls5	A	G	19: 7,639,465		probably benign	Het
Il31ra	T	A	13: 112,549,464	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,322,501	A939T	probably benign	Het
Kif16b	A	G	2: 142,700,099		probably benign	Het
Kndc1	A	T	7: 139,910,278	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,457,543	R2775S	unknown	Het
Luc7l3	C	T	11: 94,309,636	R52H	probably damaging	Het
Mapk15	A	T	15: 75,993,898	R13S	probably damaging	Het
Mdga2	G	T	12: 66,506,115	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,870,611	Q69*	probably null	Het
Mlph	A	T	1: 90,945,620	D551V	probably damaging	Het
Mup5	A	T	4: 61,834,569	F72L	probably benign	Het
Narf	T	C	11: 121,238,461	S24P	probably benign	Het
Ncapg2	A	G	12: 116,426,582	I384V	probably benign	Het
Neo1	T	C	9: 58,917,052	T698A	probably benign	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Nrros	T	C	16: 32,162,239	R24G	probably null	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr449	T	C	6: 42,838,802	V307A	probably benign	Het
Pde9a	T	C	17: 31,466,412	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 72,070,396	D315G	probably benign	Het
Plekha6	C	T	1: 133,272,535	A284V	probably benign	Het
Plekhg2	A	G	7: 28,360,259	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,287	A144E	probably damaging	Het
Ppp1r10	T	C	17: 35,929,561	V581A	possibly damaging	Het
Prr12	A	G	7: 45,048,845		probably benign	Het
Rfx6	T	C	10: 51,723,853	V565A	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Saxo2	A	G	7: 82,635,194	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,903,120	D86G	probably benign	Het
Shroom3	A	T	5: 92,943,017	M1128L	probably benign	Het
Smok2a	C	A	17: 13,225,656	T40K	probably benign	Het
Tatdn1	C	T	15: 58,921,269		probably null	Het
Tbc1d2	C	A	4: 46,649,712	G108V	probably damaging	Het
Tbck	T	C	3: 132,686,942	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,626,103	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,598,799	D245G	probably benign	Het
Trps1	T	A	15: 50,822,298	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,638,603	T385A	probably benign	Het
Ubap2l	A	T	3: 90,038,848	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,532,155	R105W	probably damaging	Het
Ubr4	G	A	4: 139,458,234		probably null	Het
Unc5b	A	G	10: 60,831,092	L25P	probably benign	Het
Usp38	A	G	8: 80,993,329	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,232,204	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,454,600	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 18,827,202	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,499,973		probably benign	Het

Other mutations in Trim68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Trim68	APN	7	102679141	splice site	probably null
IGL02703:Trim68	APN	7	102684079	missense	probably damaging	0.99
IGL02835:Trim68	UTSW	7	102678573	missense	probably benign	0.21
R1765:Trim68	UTSW	7	102680390	missense	possibly damaging	0.82
R1780:Trim68	UTSW	7	102684073	missense	possibly damaging	0.58
R4107:Trim68	UTSW	7	102678451	missense	probably benign	0.01
R4451:Trim68	UTSW	7	102684473	start codon destroyed	probably damaging	1.00
R5385:Trim68	UTSW	7	102678783	missense	probably damaging	1.00
R5793:Trim68	UTSW	7	102684353	missense	possibly damaging	0.74
R5980:Trim68	UTSW	7	102678831	missense	probably damaging	1.00
R6749:Trim68	UTSW	7	102678783	missense	probably damaging	0.99
R7396:Trim68	UTSW	7	102678362	nonsense	probably null
R7789:Trim68	UTSW	7	102684469	missense	possibly damaging	0.61
R7892:Trim68	UTSW	7	102678797	missense	unknown
R8096:Trim68	UTSW	7	102678442	missense	probably damaging	1.00
R8922:Trim68	UTSW	7	102678343	missense	probably benign	0.03
R8986:Trim68	UTSW	7	102678601	nonsense	probably null
R9026:Trim68	UTSW	7	102680240	missense	probably damaging	0.96
X0067:Trim68	UTSW	7	102684132	missense	probably benign	0.00
Z1176:Trim68	UTSW	7	102678813	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTTCCTTGGCTTCACGG -3'
(R):5'- CACAATGTTGCCCAGTAATAGC -3'

Sequencing Primer
(F):5'- CTTCACGGGAGCTCGACAAAG -3'
(R):5'- CCCAGTAATAGCTTTAGTTGAGGCC -3'

Posted On

2018-11-06