Mutagenetix > Incidental Mutations

Incidental Mutation 'R0690:Trim63'

61327

Institutional Source

Beutler Lab

Gene Symbol

Trim63

Ensembl Gene

ENSMUSG00000028834

Gene Name

tripartite motif-containing 63

Synonyms

MuRF1, Rnf28

MMRRC Submission

038875-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0690 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

134315120-134329629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134316405 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

Ref Sequence

ENSEMBL: ENSMUSP00000101501 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030638
AA Change: T60A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: T60A

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: T60A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: T60A

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

0.0725

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,969,808		probably benign	Het
Abi3	T	C	11: 95,833,634		probably benign	Het
Adam2	T	C	14: 66,057,646	N250S	probably damaging	Het
Agbl4	T	A	4: 111,657,388	I532K	probably benign	Het
Agrn	T	G	4: 156,174,453	E905A	probably damaging	Het
Ahi1	A	G	10: 20,970,843		probably benign	Het
Aifm2	A	G	10: 61,726,452	N89S	probably benign	Het
Arsj	C	T	3: 126,438,184	T193I	probably damaging	Het
Ascc2	T	A	11: 4,682,933	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,600,281	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,351,940	V56I	possibly damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Celsr2	C	A	3: 108,414,977	R173M	probably damaging	Het
Cfap57	A	G	4: 118,569,727		probably benign	Het
Cfap69	G	A	5: 5,663,951	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,900,017		probably benign	Het
Cldn8	C	T	16: 88,562,639	V133M	probably damaging	Het
Col2a1	A	T	15: 97,980,192	V954E	unknown	Het
Col6a4	T	C	9: 106,028,187		probably benign	Het
Col6a6	T	C	9: 105,709,486	M1779V	probably benign	Het
Coq8b	A	G	7: 27,242,249	E253G	probably benign	Het
Ctse	T	C	1: 131,674,778		probably benign	Het
Cyp2c29	T	A	19: 39,309,726	N238K	probably benign	Het
Dcaf1	T	A	9: 106,846,649		probably benign	Het
Dcc	A	T	18: 71,809,204		probably benign	Het
Dkk1	A	G	19: 30,549,345	F12S	probably benign	Het
Dnah6	A	G	6: 73,129,474	V1760A	probably benign	Het
Fam117b	G	A	1: 59,958,353	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,367,646	M110K	probably damaging	Het
Frem3	T	A	8: 80,613,952	I958N	possibly damaging	Het
Gab1	T	A	8: 80,800,116	N118Y	probably damaging	Het
Gda	T	A	19: 21,409,887	I251L	probably benign	Het
Gli2	C	A	1: 118,844,460	R505L	probably damaging	Het
Gm5093	A	T	17: 46,439,738	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,048,015	S327L	probably benign	Het
Gpr156	T	A	16: 37,992,141	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071	Y790H	probably damaging	Het
Guf1	C	A	5: 69,566,352		probably null	Het
H6pd	T	C	4: 149,982,573	E452G	possibly damaging	Het
Herc1	T	A	9: 66,386,838	Y487*	probably null	Het
Ifi30	T	A	8: 70,764,949		probably benign	Het
Klf13	G	A	7: 63,938,071	A159V	possibly damaging	Het
Med11	T	A	11: 70,453,226	M124K	possibly damaging	Het
Myom3	A	G	4: 135,788,426		probably benign	Het
Nat2	A	T	8: 67,501,804	I189F	probably damaging	Het
Nhlrc4	C	G	17: 25,943,684	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,762,127	R173C	probably damaging	Het
Nox3	T	C	17: 3,695,564	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,629,542	N409S	probably benign	Het
Nucb2	T	C	7: 116,535,851		probably benign	Het
Olfr1105	A	G	2: 87,033,882	F113S	probably damaging	Het
Olfr541	T	C	7: 140,704,787	F179L	possibly damaging	Het
Olfr874	T	C	9: 37,746,217	F28L	probably benign	Het
Orai2	A	T	5: 136,161,599	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,394,442	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,653,976	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,391,097	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,876,082	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,586,905	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,727,642		probably benign	Het
Qrfpr	G	A	3: 36,189,559	T131M	probably damaging	Het
Rab33b	A	G	3: 51,493,417	Y104C	probably damaging	Het
Rad54l	G	T	4: 116,099,750		probably benign	Het
Rad9a	A	T	19: 4,197,360		probably null	Het
Slc1a5	A	T	7: 16,786,904	M233L	probably benign	Het
Slc47a2	C	T	11: 61,342,504	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,268,278	Y39F	probably benign	Het
Slfn5	T	C	11: 82,961,403	V785A	probably damaging	Het
Sp6	C	T	11: 97,021,544	P28S	possibly damaging	Het
Sptbn5	A	G	2: 120,062,675		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944		probably benign	Het
St8sia1	A	G	6: 142,829,254	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,800,695		probably benign	Het
Syne1	A	G	10: 5,033,138		probably benign	Het
Thbs3	T	A	3: 89,220,165	I371N	possibly damaging	Het
Tll1	C	T	8: 64,074,290	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,834	C114G	probably null	Het
Tmem25	C	T	9: 44,795,514		probably benign	Het
Tmem8b	T	C	4: 43,674,562	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,544,580	H18L	probably benign	Het
Trpv2	T	C	11: 62,584,676		probably null	Het
Ubr2	A	T	17: 46,938,653	I1591K	probably damaging	Het
Use1	A	T	8: 71,367,065		probably benign	Het
Zfp850	A	T	7: 27,985,217	C35S	possibly damaging	Het

Other mutations in Trim63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Trim63	APN	4	134325676	missense	probably benign	0.00
murfy	UTSW	4	134323101	missense	probably damaging	1.00
FR4737:Trim63	UTSW	4	134327725	small deletion	probably benign
PIT1430001:Trim63	UTSW	4	134321173	splice site	probably benign
R1782:Trim63	UTSW	4	134323038	missense	probably benign
R1881:Trim63	UTSW	4	134316391	missense	probably damaging	0.98
R2449:Trim63	UTSW	4	134323107	missense	probably damaging	0.98
R2917:Trim63	UTSW	4	134323151	missense	probably damaging	1.00
R2939:Trim63	UTSW	4	134322997	splice site	probably benign
R3746:Trim63	UTSW	4	134315354	missense	probably damaging	1.00
R3833:Trim63	UTSW	4	134321196	missense	probably benign	0.33
R5276:Trim63	UTSW	4	134323133	missense	probably benign	0.00
R5823:Trim63	UTSW	4	134316531	missense	probably damaging	1.00
R6251:Trim63	UTSW	4	134323226	missense	probably benign	0.00
R6312:Trim63	UTSW	4	134325697	missense	probably damaging	1.00
R6893:Trim63	UTSW	4	134323101	missense	probably damaging	1.00
R6924:Trim63	UTSW	4	134321261	missense	probably damaging	0.96
R8368:Trim63	UTSW	4	134327706	small deletion	probably benign
X0027:Trim63	UTSW	4	134327706	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTCTAGGTCAAGGCCAGGAACC -3'
(R):5'- TTCTGAGGACGCTTTCTCACGC -3'

Sequencing Primer
(F):5'- ATGTATCTGGAGCAACTGGG -3'
(R):5'- ctttctcacgcccccag -3'

Posted On

2013-07-30