Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Trim55'

513458

Institutional Source

Beutler Lab

Gene Symbol

Trim55

Ensembl Gene

ENSMUSG00000060913

Gene Name

tripartite motif-containing 55

Synonyms

Murf2, D830041C10Rik

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19698638-19746585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19745650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 509 (E509K)

Ref Sequence

ENSEMBL: ENSMUSP00000029139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029139] [ENSMUST00000061294]

AlphaFold

G3X8Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029139
AA Change: E509K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: E509K

Domain	Start	End	E-Value	Type
RING	26	81	3.69e-8	SMART
BBOX	119	161	3.58e-6	SMART
Blast:BBC	168	294	2e-33	BLAST
PDB:4M3L\|D	215	272	2e-12	PDB
low complexity region	329	355	N/A	INTRINSIC
low complexity region	384	398	N/A	INTRINSIC
low complexity region	474	485	N/A	INTRINSIC
low complexity region	514	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061294

SMART Domains

Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	38	56	N/A	INTRINSIC
CRF	146	185	1.55e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195674

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

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 zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased heart and muscle to body weight ratios and cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,717,024 (GRCm39)	V67A	probably damaging	Het
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Atxn10	T	C	15: 85,277,586 (GRCm39)	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,287,429 (GRCm39)	G47S	probably damaging	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,646,334 (GRCm39)	V98A	probably damaging	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Nosip	G	T	7: 44,726,164 (GRCm39)		probably null	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or51f2	A	T	7: 102,526,377 (GRCm39)	T17S	probably benign	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	probably damaging	Het

Other mutations in Trim55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02948:Trim55	APN	3	19,725,116 (GRCm39)	missense	probably damaging	1.00
IGL03095:Trim55	APN	3	19,728,629 (GRCm39)	missense	probably benign	0.00
IGL03411:Trim55	APN	3	19,713,354 (GRCm39)	missense	probably damaging	0.99
R0011:Trim55	UTSW	3	19,725,163 (GRCm39)	missense	probably benign	0.00
R0021:Trim55	UTSW	3	19,698,866 (GRCm39)	missense	probably benign	0.04
R0021:Trim55	UTSW	3	19,698,866 (GRCm39)	missense	probably benign	0.04
R0194:Trim55	UTSW	3	19,716,025 (GRCm39)	missense	probably benign	0.00
R0437:Trim55	UTSW	3	19,725,142 (GRCm39)	missense	probably benign
R0450:Trim55	UTSW	3	19,725,256 (GRCm39)	missense	possibly damaging	0.55
R0469:Trim55	UTSW	3	19,725,256 (GRCm39)	missense	possibly damaging	0.55
R1029:Trim55	UTSW	3	19,698,906 (GRCm39)	missense	probably damaging	1.00
R1397:Trim55	UTSW	3	19,698,801 (GRCm39)	missense	probably benign	0.01
R1928:Trim55	UTSW	3	19,716,046 (GRCm39)	critical splice donor site	probably null
R2079:Trim55	UTSW	3	19,698,830 (GRCm39)	missense	probably damaging	0.98
R3856:Trim55	UTSW	3	19,727,120 (GRCm39)	missense	probably benign
R4646:Trim55	UTSW	3	19,725,286 (GRCm39)	missense	probably benign	0.03
R4907:Trim55	UTSW	3	19,728,538 (GRCm39)	missense	probably benign
R5090:Trim55	UTSW	3	19,725,771 (GRCm39)	missense	probably benign	0.08
R5562:Trim55	UTSW	3	19,713,317 (GRCm39)	missense	probably benign	0.04
R6658:Trim55	UTSW	3	19,745,719 (GRCm39)	missense	probably damaging	1.00
R6786:Trim55	UTSW	3	19,726,938 (GRCm39)	missense	probably benign
R8147:Trim55	UTSW	3	19,727,011 (GRCm39)	missense	probably benign	0.28
R8524:Trim55	UTSW	3	19,725,113 (GRCm39)	missense	probably benign	0.00
R8824:Trim55	UTSW	3	19,727,126 (GRCm39)	missense	probably benign
R8974:Trim55	UTSW	3	19,699,603 (GRCm39)	missense	probably damaging	0.96
R8977:Trim55	UTSW	3	19,713,341 (GRCm39)	missense	probably benign	0.17
R9283:Trim55	UTSW	3	19,699,612 (GRCm39)	critical splice donor site	probably null
R9302:Trim55	UTSW	3	19,727,153 (GRCm39)	missense	probably benign	0.04
R9380:Trim55	UTSW	3	19,728,559 (GRCm39)	missense	probably benign	0.00
R9657:Trim55	UTSW	3	19,728,671 (GRCm39)	missense	possibly damaging	0.46
R9732:Trim55	UTSW	3	19,716,039 (GRCm39)	missense	probably damaging	0.97
R9758:Trim55	UTSW	3	19,699,498 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGTGAATCACTTGAATGGC -3'
(R):5'- CCCCTTCATATGAATCGTGGTG -3'

Sequencing Primer
(F):5'- GTGAATCACTTGAATGGCTCTTGACC -3'
(R):5'- CCTTCATATGAATCGTGGTGAATTTC -3'

Posted On

2018-04-27