Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Trim63'

209101

Institutional Source

Beutler Lab

Gene Symbol

Trim63

Ensembl Gene

ENSMUSG00000028834

Gene Name

tripartite motif-containing 63

Synonyms

MuRF1, Rnf28

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134042431-134056940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 134043702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 55 (A55E)

Ref Sequence

ENSEMBL: ENSMUSP00000030638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030638] [ENSMUST00000105875]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030638
AA Change: A55E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: A55E

Domain	Start	End	E-Value	Type
RING	23	78	1.4e-8	SMART
BBOX	117	159	1.41e-4	SMART
Blast:BBC	166	292	3e-75	BLAST
PDB:4M3L\|D	213	271	3e-28	PDB
low complexity region	324	350	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105875
AA Change: A55E

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

SMART Domains

Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: A55E

Domain	Start	End	E-Value	Type
RING	23	78	1.4e-8	SMART
BBOX	117	159	1.41e-4	SMART
Blast:BBC	166	292	3e-75	BLAST
PDB:4M3L\|D	213	271	3e-28	PDB
low complexity region	323	353	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135576

Meta Mutation Damage Score

0.1018

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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 RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]
PHENOTYPE: A targeted homozygous mutation in this gene results in resistance to skeletal muscle atrophy in response to nerve injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Eral1	T	A	11: 77,966,875 (GRCm39)	H180L	possibly damaging	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Pigs	T	C	11: 78,232,582 (GRCm39)	V472A	probably benign	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Rttn	T	A	18: 89,033,336 (GRCm39)	S716T	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Tmem81	T	A	1: 132,435,948 (GRCm39)		probably benign	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,086,157 (GRCm39)	R31Q	probably benign	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	probably damaging	Het

Other mutations in Trim63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Trim63	APN	4	134,052,987 (GRCm39)	missense	probably benign	0.00
murfy	UTSW	4	134,050,412 (GRCm39)	missense	probably damaging	1.00
FR4737:Trim63	UTSW	4	134,055,036 (GRCm39)	small deletion	probably benign
PIT1430001:Trim63	UTSW	4	134,048,484 (GRCm39)	splice site	probably benign
R0690:Trim63	UTSW	4	134,043,716 (GRCm39)	missense	probably benign	0.00
R1782:Trim63	UTSW	4	134,050,349 (GRCm39)	missense	probably benign
R2449:Trim63	UTSW	4	134,050,418 (GRCm39)	missense	probably damaging	0.98
R2917:Trim63	UTSW	4	134,050,462 (GRCm39)	missense	probably damaging	1.00
R2939:Trim63	UTSW	4	134,050,308 (GRCm39)	splice site	probably benign
R3746:Trim63	UTSW	4	134,042,665 (GRCm39)	missense	probably damaging	1.00
R3833:Trim63	UTSW	4	134,048,507 (GRCm39)	missense	probably benign	0.33
R5276:Trim63	UTSW	4	134,050,444 (GRCm39)	missense	probably benign	0.00
R5823:Trim63	UTSW	4	134,043,842 (GRCm39)	missense	probably damaging	1.00
R6251:Trim63	UTSW	4	134,050,537 (GRCm39)	missense	probably benign	0.00
R6312:Trim63	UTSW	4	134,053,008 (GRCm39)	missense	probably damaging	1.00
R6893:Trim63	UTSW	4	134,050,412 (GRCm39)	missense	probably damaging	1.00
R6924:Trim63	UTSW	4	134,048,572 (GRCm39)	missense	probably damaging	0.96
R8368:Trim63	UTSW	4	134,055,017 (GRCm39)	small deletion	probably benign
R9120:Trim63	UTSW	4	134,055,003 (GRCm39)	splice site	probably benign
X0027:Trim63	UTSW	4	134,055,017 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGCTTCAACCAAGATACTTCACC -3'
(R):5'- TGGTGAAAGCAGCTGTAGGC -3'

Sequencing Primer
(F):5'- CACATGGGTGGGCTAGTTC -3'
(R):5'- TTCGGCTGCACACTGAC -3'

Posted On

2014-06-30