Mutagenetix > Incidental Mutation

Incidental Mutation 'R4400:Trim60'

326591

Institutional Source

Beutler Lab

Gene Symbol

Trim60

Ensembl Gene

ENSMUSG00000053490

Gene Name

tripartite motif-containing 60

Synonyms

Rnf33, 2czf45

MMRRC Submission

041131-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65451959-65471236 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 65453864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 128 (Y128*)

Ref Sequence

ENSEMBL: ENSMUSP00000040299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048565]

AlphaFold

Q8VI40

Predicted Effect

probably null
Transcript: ENSMUST00000048565
AA Change: Y128*

SMART Domains

Protein: ENSMUSP00000040299
Gene: ENSMUSG00000053490
AA Change: Y128*

Domain	Start	End	E-Value	Type
RING	15	55	1.48e-7	SMART
low complexity region	81	90	N/A	INTRINSIC
BBOX	91	132	3.12e-6	SMART
PRY	289	341	4.11e-15	SMART
Pfam:SPRY	344	459	2e-14	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4b	A	G	8: 13,438,810 (GRCm39)	F189L	probably damaging	Het
Atp8a1	A	T	5: 67,922,221 (GRCm39)	Y372N	probably benign	Het
Bves	T	C	10: 45,245,389 (GRCm39)	V354A	probably benign	Het
Cd79b	A	T	11: 106,202,836 (GRCm39)	Y195*	probably null	Het
Cog6	A	C	3: 52,920,362 (GRCm39)	D131E	probably benign	Het
Elp3	C	T	14: 65,785,539 (GRCm39)	E421K	possibly damaging	Het
Fbxw28	A	T	9: 109,157,378 (GRCm39)	F237Y	probably damaging	Het
Fezf1	T	C	6: 23,247,709 (GRCm39)	N122S	probably benign	Het
Galnt2	A	G	8: 125,051,042 (GRCm39)	K157E	probably damaging	Het
Git2	T	C	5: 114,871,970 (GRCm39)	E141G	possibly damaging	Het
Gm26888	T	C	11: 119,044,853 (GRCm39)		silent	Het
Gnrhr	T	C	5: 86,330,108 (GRCm39)		probably null	Het
Hoxd13	A	T	2: 74,500,359 (GRCm39)	D300V	probably damaging	Het
Hspg2	G	A	4: 137,275,433 (GRCm39)	A2748T	probably benign	Het
Hyal2	A	G	9: 107,448,052 (GRCm39)	N235S	probably damaging	Het
Itgam	T	G	7: 127,680,830 (GRCm39)	L253R	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Matr3	A	T	18: 35,716,969 (GRCm39)	K591N	possibly damaging	Het
Mep1a	T	A	17: 43,785,897 (GRCm39)	I731F	possibly damaging	Het
Mrtfa	G	A	15: 80,905,124 (GRCm39)	Q103*	probably null	Het
Muc5b	A	G	7: 141,415,124 (GRCm39)	D2690G	possibly damaging	Het
Nlrc5	A	G	8: 95,220,981 (GRCm39)	Q1140R	probably benign	Het
Or14c39	A	G	7: 86,343,798 (GRCm39)	I45V	probably benign	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or6b6	A	G	7: 106,571,209 (GRCm39)	L114P	probably damaging	Het
Plcl1	T	C	1: 55,754,736 (GRCm39)	F1028L	probably damaging	Het
Plpp2	A	G	10: 79,363,327 (GRCm39)	V106A	possibly damaging	Het
Prpf8	A	G	11: 75,381,528 (GRCm39)	T255A	possibly damaging	Het
Shoc2	A	G	19: 54,019,660 (GRCm39)	I568V	probably benign	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Ssrp1	A	T	2: 84,868,285 (GRCm39)	D9V	probably damaging	Het
Strn3	A	T	12: 51,694,883 (GRCm39)	D293E	possibly damaging	Het
Tbx3	G	T	5: 119,818,636 (GRCm39)	D404Y	probably damaging	Het
Tdrd7	T	C	4: 46,005,540 (GRCm39)	S416P	possibly damaging	Het
Tspoap1	T	C	11: 87,666,429 (GRCm39)	S947P	probably damaging	Het
Ttn	A	T	2: 76,612,739 (GRCm39)	S17113R	probably damaging	Het
Ubqln1	T	A	13: 58,341,202 (GRCm39)	N183I	probably damaging	Het
Ubr4	A	G	4: 139,189,167 (GRCm39)	N3917D	possibly damaging	Het
Ucp2	A	G	7: 100,148,557 (GRCm39)	*310W	probably null	Het
Wdr76	A	G	2: 121,359,314 (GRCm39)	M218V	probably damaging	Het
Zranb3	A	C	1: 127,884,392 (GRCm39)	L998R	possibly damaging	Het
Zxdc	G	A	6: 90,346,792 (GRCm39)	G51E	probably damaging	Het

Other mutations in Trim60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Trim60	APN	8	65,453,371 (GRCm39)	missense	possibly damaging	0.61
IGL03145:Trim60	APN	8	65,453,224 (GRCm39)	missense	probably damaging	0.99
R0054:Trim60	UTSW	8	65,453,973 (GRCm39)	missense	probably benign	0.05
R0054:Trim60	UTSW	8	65,453,973 (GRCm39)	missense	probably benign	0.05
R0080:Trim60	UTSW	8	65,453,251 (GRCm39)	missense	probably damaging	1.00
R0244:Trim60	UTSW	8	65,453,700 (GRCm39)	missense	probably benign	0.07
R0348:Trim60	UTSW	8	65,453,868 (GRCm39)	missense	probably damaging	1.00
R1104:Trim60	UTSW	8	65,454,071 (GRCm39)	missense	probably benign	0.04
R1615:Trim60	UTSW	8	65,453,162 (GRCm39)	nonsense	probably null
R1667:Trim60	UTSW	8	65,454,116 (GRCm39)	missense	probably benign	0.00
R1944:Trim60	UTSW	8	65,453,964 (GRCm39)	missense	possibly damaging	0.95
R2009:Trim60	UTSW	8	65,453,975 (GRCm39)	missense	probably damaging	0.99
R4093:Trim60	UTSW	8	65,454,030 (GRCm39)	missense	probably benign	0.05
R5171:Trim60	UTSW	8	65,453,176 (GRCm39)	missense	probably benign	0.05
R5898:Trim60	UTSW	8	65,453,016 (GRCm39)	nonsense	probably null
R6586:Trim60	UTSW	8	65,453,248 (GRCm39)	missense	possibly damaging	0.61
R7012:Trim60	UTSW	8	65,453,043 (GRCm39)	missense	possibly damaging	0.93
R7092:Trim60	UTSW	8	65,453,700 (GRCm39)	missense	probably benign	0.07
R7274:Trim60	UTSW	8	65,453,133 (GRCm39)	missense	possibly damaging	0.76
R7567:Trim60	UTSW	8	65,454,177 (GRCm39)	missense	probably damaging	0.97
R7761:Trim60	UTSW	8	65,453,964 (GRCm39)	missense	possibly damaging	0.95
R9063:Trim60	UTSW	8	65,453,465 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GTGGCTCTCATTTAGATGCGC -3'
(R):5'- CAGTTCCGTAACATGACTGAAACC -3'

Sequencing Primer
(F):5'- GCTTCGTACTCACTTTGTAGGAACAG -3'
(R):5'- TGACTGAAACCATTAGGCTCCTG -3'

Posted On

2015-07-07