Mutagenetix > Incidental Mutation

Incidental Mutation 'R5090:Trim55'

387678

Institutional Source

Beutler Lab

Gene Symbol

Trim55

Ensembl Gene

ENSMUSG00000060913

Gene Name

tripartite motif-containing 55

Synonyms

Murf2, D830041C10Rik

MMRRC Submission

042679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19698638-19746585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19725771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 313 (N313S)

Ref Sequence

ENSEMBL: ENSMUSP00000029139 (fasta)

Gene Model

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

AlphaFold

G3X8Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000029139
AA Change: N313S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: N313S

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

Meta Mutation Damage Score

0.0628

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,984,422 (GRCm39)	S1168G	probably damaging	Het
Acsf2	A	T	11: 94,462,095 (GRCm39)		probably null	Het
Ankk1	G	T	9: 49,333,063 (GRCm39)	S140R	probably damaging	Het
Ash1l	G	T	3: 88,960,184 (GRCm39)	K2305N	probably damaging	Het
Asnsd1	C	T	1: 53,391,563 (GRCm39)		probably benign	Het
Atxn7l1	T	C	12: 33,376,077 (GRCm39)	S51P	probably damaging	Het
Ccdc88c	A	G	12: 100,920,439 (GRCm39)	L394P	probably damaging	Het
Cd200r1	T	A	16: 44,609,924 (GRCm39)	S48T	possibly damaging	Het
Cemip	T	C	7: 83,591,343 (GRCm39)	E1243G	probably damaging	Het
Cep192	T	A	18: 67,993,617 (GRCm39)	H1977Q	possibly damaging	Het
Cep250	T	C	2: 155,818,324 (GRCm39)	L833P	probably damaging	Het
Chd9	C	A	8: 91,753,462 (GRCm39)	Y1818*	probably null	Het
Clca3a1	C	A	3: 144,443,633 (GRCm39)	V706L	probably benign	Het
Cntln	T	C	4: 84,865,830 (GRCm39)	V162A	probably damaging	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cux1	T	A	5: 136,342,054 (GRCm39)	N446I	possibly damaging	Het
Dlg1	G	T	16: 31,656,902 (GRCm39)	G599W	probably damaging	Het
Dock7	C	T	4: 98,879,648 (GRCm39)	V969I	probably benign	Het
Ephb3	T	C	16: 21,033,237 (GRCm39)	C74R	probably damaging	Het
Fads6	T	A	11: 115,187,480 (GRCm39)	T72S	probably benign	Het
Fra10ac1	C	T	19: 38,202,873 (GRCm39)	R110Q	probably damaging	Het
Gdf3	T	A	6: 122,586,713 (GRCm39)	L71F	probably benign	Het
Gm6685	A	G	11: 28,289,253 (GRCm39)	Y188H	probably benign	Het
Gm6981	A	C	9: 51,914,142 (GRCm39)		noncoding transcript	Het
Gnpda1	T	C	18: 38,465,146 (GRCm39)	T157A	probably damaging	Het
Grap2	A	C	15: 80,522,683 (GRCm39)	N70H	possibly damaging	Het
Gvin3	T	A	7: 106,200,109 (GRCm39)		noncoding transcript	Het
Hdac5	G	A	11: 102,088,539 (GRCm39)	R887C	probably damaging	Het
Hectd3	T	A	4: 116,857,435 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,787,098 (GRCm39)	K162E	probably benign	Het
Inpp5e	A	T	2: 26,289,383 (GRCm39)		probably null	Het
Kifap3	A	G	1: 163,683,645 (GRCm39)	D442G	possibly damaging	Het
Lama3	A	G	18: 12,675,459 (GRCm39)	T1015A	possibly damaging	Het
Lcp2	T	A	11: 34,039,725 (GRCm39)	Y508*	probably null	Het
Map1b	G	T	13: 99,566,534 (GRCm39)	Y2062*	probably null	Het
Mipep	A	G	14: 61,039,748 (GRCm39)	D259G	possibly damaging	Het
Mmp2	T	C	8: 93,579,202 (GRCm39)	F97S	probably damaging	Het
Mrpl18	A	C	17: 13,132,697 (GRCm39)	M144R	probably damaging	Het
Nek9	A	G	12: 85,376,616 (GRCm39)		probably null	Het
Nmral1	A	T	16: 4,532,395 (GRCm39)	Y139N	probably damaging	Het
Notch4	T	C	17: 34,799,894 (GRCm39)	C952R	probably damaging	Het
Nsf	T	C	11: 103,801,404 (GRCm39)	N204D	probably benign	Het
P2rx4	A	T	5: 122,863,118 (GRCm39)	D197V	probably damaging	Het
Pak5	A	T	2: 135,929,338 (GRCm39)	I615N	probably damaging	Het
Parp10	T	C	15: 76,125,925 (GRCm39)	D421G	probably damaging	Het
Pcdha6	A	T	18: 37,101,770 (GRCm39)	D321V	probably benign	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Psmd4	T	C	3: 94,942,559 (GRCm39)	N7S	possibly damaging	Het
Ptprq	A	G	10: 107,361,950 (GRCm39)	V2084A	probably damaging	Het
Rab3gap1	A	G	1: 127,843,415 (GRCm39)	E263G	probably benign	Het
Rbm5	A	G	9: 107,637,511 (GRCm39)		probably benign	Het
Sacs	T	C	14: 61,442,702 (GRCm39)	F1583L	probably damaging	Het
Sel1l3	G	T	5: 53,357,388 (GRCm39)	H201Q	probably benign	Het
Shoc1	T	C	4: 59,111,108 (GRCm39)	T55A	unknown	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Usp17lb	A	T	7: 104,490,290 (GRCm39)	D212E	probably benign	Het
Xirp2	A	G	2: 67,355,814 (GRCm39)	E3525G	possibly damaging	Het
Zfp236	T	C	18: 82,637,006 (GRCm39)	T1379A	probably benign	Het
Zfp553	A	T	7: 126,834,659 (GRCm39)	E71D	probably damaging	Het
Znrf1	T	G	8: 112,265,035 (GRCm39)	F21V	probably benign	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
R5562:Trim55	UTSW	3	19,713,317 (GRCm39)	missense	probably benign	0.04
R6370:Trim55	UTSW	3	19,745,650 (GRCm39)	missense	possibly damaging	0.87
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'- TTGCTTTCACAGAATGCCAAGAC -3'
(R):5'- TAAGACTGAGGGTCACGCTG -3'

Sequencing Primer
(F):5'- CCCTGTTGCAAAAGTGAGTAC -3'
(R):5'- TCACGCTGGTTTGTGATCC -3'

Posted On

2016-06-06