Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01152:Trim63'

50999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim63

Ensembl Gene

ENSMUSG00000028834

Gene Name

tripartite motif-containing 63

Synonyms

MuRF1, Rnf28

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

134042431-134056940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134052987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 316 (A316V)

Ref Sequence

ENSEMBL: ENSMUSP00000101501 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030638
AA Change: A316V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: A316V

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

probably benign
Transcript: ENSMUST00000105875
AA Change: A316V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: A316V

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	T	G	1: 192,515,947 (GRCm39)		noncoding transcript	Het
Abcb4	G	A	5: 9,000,678 (GRCm39)	V1031M	probably benign	Het
Abcc4	A	G	14: 118,836,797 (GRCm39)	S655P	probably damaging	Het
Actn1	T	C	12: 80,245,820 (GRCm39)	K121R	probably damaging	Het
Aldh1l2	T	A	10: 83,358,750 (GRCm39)	R82*	probably null	Het
Arhgap31	T	A	16: 38,422,601 (GRCm39)	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 68,004,549 (GRCm39)	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,631,174 (GRCm39)	M401V	possibly damaging	Het
Brca2	A	T	5: 150,465,855 (GRCm39)	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,789,757 (GRCm39)	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clk1	A	T	1: 58,452,611 (GRCm39)	C359S	possibly damaging	Het
Clk2	T	A	3: 89,083,818 (GRCm39)	F479I	probably damaging	Het
Cul4b	T	C	X: 37,632,247 (GRCm39)	M709V	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,620 (GRCm39)		probably null	Het
Dgkb	T	A	12: 38,134,233 (GRCm39)	N46K	probably damaging	Het
Dnah9	C	T	11: 65,962,882 (GRCm39)	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,813,926 (GRCm39)	N281S	probably benign	Het
Galnt5	A	T	2: 57,915,405 (GRCm39)	I654L	probably benign	Het
Gm9989	T	G	3: 81,829,518 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,228,237 (GRCm39)	E1306G	probably benign	Het
Gsc	C	A	12: 104,437,864 (GRCm39)	K219N	probably damaging	Het
Gsx2	A	T	5: 75,236,452 (GRCm39)	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,042,446 (GRCm39)	E121A	probably damaging	Het
Lama2	C	T	10: 27,084,425 (GRCm39)	R915H	probably benign	Het
Large2	A	G	2: 92,200,984 (GRCm39)	L64P	probably damaging	Het
Lztr1	C	A	16: 17,340,317 (GRCm39)	Q136K	probably damaging	Het
Mageb18	A	G	X: 91,163,430 (GRCm39)	W271R	possibly damaging	Het
Magoh	A	C	4: 107,742,203 (GRCm39)		probably benign	Het
Matcap2	A	T	9: 22,346,460 (GRCm39)	H356L	probably benign	Het
Mrgprx1	T	C	7: 47,671,234 (GRCm39)	H171R	probably benign	Het
Muc1	C	A	3: 89,138,061 (GRCm39)	T301K	probably benign	Het
Nbas	C	T	12: 13,410,959 (GRCm39)	L868F	probably damaging	Het
Nwd2	A	G	5: 63,963,872 (GRCm39)	D1152G	possibly damaging	Het
Or5p68	C	T	7: 107,946,156 (GRCm39)	A11T	probably benign	Het
Or7d10	G	A	9: 19,832,245 (GRCm39)	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,893,488 (GRCm39)	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,094,121 (GRCm39)	D350G	probably benign	Het
Pcolce2	A	T	9: 95,574,976 (GRCm39)	N309Y	probably damaging	Het
Pim2	C	A	X: 7,744,661 (GRCm39)		probably benign	Het
Plcb1	A	G	2: 134,655,579 (GRCm39)	Y53C	probably damaging	Het
Pogk	T	C	1: 166,236,047 (GRCm39)	E18G	probably damaging	Het
Pxdn	T	A	12: 30,051,936 (GRCm39)	D704E	probably damaging	Het
Rb1	C	A	14: 73,443,310 (GRCm39)	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,843,621 (GRCm39)	H247R	possibly damaging	Het
Scube1	A	T	15: 83,497,771 (GRCm39)	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,273,675 (GRCm39)	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,478,831 (GRCm39)	Y99H	probably damaging	Het
Slc36a2	T	A	11: 55,060,673 (GRCm39)		probably benign	Het
Smarcc1	A	C	9: 109,968,693 (GRCm39)	E130A	possibly damaging	Het
Strc	A	G	2: 121,201,276 (GRCm39)	M1273T	probably benign	Het
Tmem116	A	G	5: 121,601,862 (GRCm39)	I21V	probably benign	Het
Tmem190	T	C	7: 4,787,025 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,049,062 (GRCm39)	E321G	probably damaging	Het
Zfat	T	A	15: 67,982,353 (GRCm39)	R1053S	probably damaging	Het

Other mutations in Trim63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21