Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Trim63'

509805

Institutional Source

Beutler Lab

Gene Symbol

Trim63

Ensembl Gene

ENSMUSG00000028834

Gene Name

tripartite motif-containing 63

Synonyms

MuRF1, Rnf28

MMRRC Submission

044415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134042431-134056940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134053008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 323 (D323G)

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: D323G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: D323G

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

unknown
Transcript: ENSMUST00000105875
AA Change: D323G

SMART Domains

Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: D323G

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: ENSMUST00000135576

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,936,541 (GRCm39)	S472P	possibly damaging	Het
Aadacl4fm1	A	T	4: 144,255,072 (GRCm39)	H164L	probably benign	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,682,961 (GRCm39)		probably benign	Het
Acadvl	T	A	11: 69,902,593 (GRCm39)	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,558,079 (GRCm39)	*202R	probably null	Het
B3gat2	G	T	1: 23,854,548 (GRCm39)	E83*	probably null	Het
Bmper	C	A	9: 23,318,087 (GRCm39)	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,271,742 (GRCm39)	P336H	probably damaging	Het
Cct2	A	T	10: 116,891,960 (GRCm39)	S363T	probably benign	Het
Cers5	A	G	15: 99,644,996 (GRCm39)	V119A	probably benign	Het
Cfhr2	C	T	1: 139,758,817 (GRCm39)	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,143,432 (GRCm39)	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,702,268 (GRCm39)	M255T	probably benign	Het
Dpp6	A	T	5: 27,930,669 (GRCm39)	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671 (GRCm39)	K205*	probably null	Het
Epg5	T	A	18: 78,022,426 (GRCm39)	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,565,456 (GRCm39)	C452G	probably damaging	Het
Gnai2	A	T	9: 107,512,316 (GRCm39)	V34E	probably damaging	Het
Gng3	A	G	19: 8,815,997 (GRCm39)	V7A	probably benign	Het
Hdc	A	G	2: 126,449,326 (GRCm39)	V77A	possibly damaging	Het
Hint1	G	A	11: 54,760,816 (GRCm39)	C85Y	probably benign	Het
Kif17	C	T	4: 138,015,504 (GRCm39)	S551L	probably benign	Het
Lgr5	A	G	10: 115,288,829 (GRCm39)	L581P	probably damaging	Het
Lig4	G	T	8: 10,021,739 (GRCm39)	N680K	probably benign	Het
Lipi	T	A	16: 75,370,803 (GRCm39)	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,267,025 (GRCm39)	G4294E	probably damaging	Het
Lrrc7	A	G	3: 157,866,246 (GRCm39)	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175 (GRCm39)	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,119,223 (GRCm39)	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,148,821 (GRCm39)	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386 (GRCm39)	T90A	probably benign	Het
Or1j20	A	T	2: 36,760,477 (GRCm39)	I300L	probably benign	Het
Or52n20	T	A	7: 104,320,796 (GRCm39)	Y296N	probably damaging	Het
Or8b36	GTTT	GTTTGCTGTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TTT	TTTGCTGATT	9: 37,937,843 (GRCm39)		probably null	Het
Or8b36	T	TGCTGTTC	9: 37,937,845 (GRCm39)		probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Or8k53	A	T	2: 86,177,925 (GRCm39)	F62I	probably damaging	Het
Osmr	A	G	15: 6,853,119 (GRCm39)	V592A	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rusf1	T	C	7: 127,872,715 (GRCm39)	K411R	probably benign	Het
Slc6a7	A	G	18: 61,135,457 (GRCm39)	S381P	probably benign	Het
Slitrk6	A	G	14: 110,987,679 (GRCm39)	L676P	probably benign	Het
Sspo	T	C	6: 48,434,300 (GRCm39)		probably null	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Homo
Tma16	T	C	8: 66,934,118 (GRCm39)	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257 (GRCm39)	H320N	probably damaging	Het
Vash2	C	A	1: 190,690,880 (GRCm39)	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,679,083 (GRCm39)	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,332,566 (GRCm39)		probably null	Het
Zfp382	G	A	7: 29,833,963 (GRCm39)	R538H	probably damaging	Het
Zfp592	T	A	7: 80,673,184 (GRCm39)	D49E	probably benign	Het
Zfp60	T	C	7: 27,448,201 (GRCm39)	C290R	probably damaging	Het
Zfp69	G	A	4: 120,806,714 (GRCm39)		probably benign	Het
Zfp790	G	T	7: 29,527,647 (GRCm39)	G111W	probably damaging	Het
Zfp948	T	C	17: 21,807,429 (GRCm39)	I207T	possibly 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
R1881:Trim63	UTSW	4	134,043,702 (GRCm39)	missense	probably damaging	0.98
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
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'- TGGACCCACATAGAGCCAAG -3'
(R):5'- CCATCACAAAGTTGTCTGTGG -3'

Sequencing Primer
(F):5'- AAGGCTAAGCTGTCCCTTCCTG -3'
(R):5'- AGATCTCTATGTGTTCCAGACCAG -3'

Posted On

2018-04-02